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Article

1. Suetsugu H, Kim K , Yamamoto T, Bang SY, Sakamoto Y, Shin JM, Sugano N, Kim JS, Mukai M, Lee YK , Ohmura K, Park DJ , Takahashi D, Ahn GY, Karino K, Kwon YC, Miyamura T, Kim J, Nakamura J, Motomura G, Kuroda T, Niiro H, Miyamoto T, Takeuchi T, Ikari K, Amano K, Tada Y, Yamaji K, Shimizu M, Atsumi T, Seki T, Tanaka Y, Kubo T, Hisada R, Yoshioka T, Yamazaki M, Kabata T, Kajino T, Ohta Y, Okawa T, Naito Y, Kaneuji A, Yasunaga Y, Ohzono K, Tomizuka K, Koido M, Matsuda K, Okada Y, Suzuki A, Kim BJ, Kochi Y, Lee HS, Ikegawa S, Bae SC , Chikashi Terao C.
   Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus.
   Hum Mol Genet 31(7):1082-1095, 2022.
2. Hartley A, Sanderson E, Granell R, Paternoster L, Zheng J, Smith GD, Southam L, Hatzikotoulas K, Boer CG, van Meurs J, Zeggini E; Genetics of Osteoarthritis Consortium, Gregson CL, Tobias JH.
   Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independently of body mass index.
   Int J Epidemiol 51(4):1254-1267, 2022.
3. Bjornsdottir G, Stefansdottir L, Thorleifsson G, Sulem P, Norland K, Ferkingstad E, Oddsson A, Zink F, Lund SH, Nawaz MS, Bragi Walters G, Skuladottir AT, Gudjonsson SA, Einarsson G, Halldorsson GH, Bjarnadottir V, Sveinbjornsson G, Helgadottir A, Styrkarsdottir U, Gudmundsson LJ, Pedersen OB, Hansen TF, Werge T, Banasik K, Troelsen A, Skou ST, Thørner LW, Erikstrup C, Nielsen KR, Mikkelsen S; DBDS Genetic Consortium; GO Consortium, Jonsdottir I, Bjornsson A, Olafsson IH, Ulfarsson E, Blondal J, Vikingsson A, Brunak S, Ostrowski SR, Ullum H, Thorsteinsdottir U, Stefansson H, Gudbjartsson DF, Thorgeirsson TE, Stefansson K.
   Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
   Nat Commun 13(1):634, 2022.
4. Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S.
   De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
   Clin Genet 102(1):3-11, 2022.
5. Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG), Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A.
   SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
   Genet Med S1098-3600(22)00665-7, 2022.
6. Singh H, Shipra, Sharma V, Sharma I, Sharma A, Modeel S, Gupta N, Gupta G, Pandita AK, Butt MF, Sharma R, Pandita S, Singh V, Rai E, Ikegawa S, Sharma S.
   The first study of epidemiology of adolescent idiopathic scoliosis shows lower prevalence in females of Jammu and Kashmir, India
   Am J Transl Res 14(2):1100-1106, 2022.
7. Hikino K, Koido M, Otomo N, Tomizuka K, Ikegawa S, Matsuda K, Momozawa Y; Biobank Japan Project, Mushiroda T, Terao C.
   Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer.
   J Hum Genet 67(3):149-156, 2022.
8. Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L.
   SLC4A2 deficiency causes a new type of osteopetrosis.
   J Bone Miner Res 37(2):226-235, 2022.
9. Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang YF, Amano K, Park DJ, Yang W, Tada Y, Lau YL, Yamaji K, Zhu Z, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y; Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head, Yamamoto K, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC.
   Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study.
   Ann Rheum Dis 81(9):1273-80, 2022.
10. Cao Y, You Y, Wang Q, Ren X, Li S, Li L, Xia W, Guan X, Yang T, Ikegawa S, Wang Z, Zhao X.
    Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
    BMC Med Genomics 16;15(1):161, 2022.
11. Kırkgöz T, Özkan B, Hazan F, Acar S, Nalbantoğlu Ö, Özkaya B, Kulalı MA, G ürsoy S, Ikegawa S, Guo L.
    A null mutation of TNFRSF11A causes dysosteosclerosis, not osteopetrosis.
    Front Genet 13:938814, 2022.
12. Sun Z, Liu Q, Lv Z, Li J, Xu X, Sun H, Wang M, Sun K, Shi T, Liu Z, Tan G, Yan W, Wu R, Yang X Y, Ikegawa S, Jiang Q, Sun Y, Shi D.
    Targeting macrophagic SHP2 for ameliorating osteoarthritis via TLR signaling.
    Acta Pharm Sin B 12(7):3073-3084, 2022.
13. Tachibana N, Chijimatsu R, Okada H, Oichi T, Taniguchi Y, Maenohara Y, Miyahara J, Ishikura H, Iwanaga Y, Arino Y, Nagata K, Nakamoto H, Kato S, Doi T, Matsubayashi Y, Oshima Y, Terashima A, Omata Y, Yano F, Maeda S, Ikegawa S, Seki M, Suzuki Y, Tanaka S, Saito T. RSPO2 defines a distinct undifferentiated progenitor in the tendon/ligament and suppresses ectopic ossification.
    Sci Adv 8(33):eabn2138, 2022.
14. Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H, Mushtaq M, Khalid S, Hussain S, Naz S, Janjua J, Amjad SB, Baig RM, Makitie O, Qamar R, Ikegawa S, Gen N, Khor CC, Foo JN, Siddiqi S.
    Biallelic variants in CHST3 cause spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
    BMC Musculoskelet Disord 23(1):818, 2022.
15. Lv Z, Han J, Li J, Guo H, Fei Y, Sun Z, Dong J, Wang M, Fan C, Li W, Xie Y, Sun W, Chen J, Liu Y, Chen F, Liu Z, Liu A, Wu R, Xu X, Yan W, Jiang Q, Ikegawa S, Chen X, Shi D.
    Single cell RNA-seq analysis identifies ferroptotic chondrocyte cluster and reveals TRPV1 as an anti-ferroptotic target in osteoarthritis.
    EBioMedicine 84:104258, 2022.
16. Yonezawa Y, Guo L, Kakinuma H, Otomo N, Yoshino S, Takeda K, Nakajima M, Shiraki T, Ogura Y, Takahashi Y, Koike Y, Minami S, Uno K, Kawakami N, Ito M, Yonezawa I, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Sato T, Inami S, Nakamura M, Matsumoto M, Terao C, Watanabe K, Okamoto H, Ikegawa S.
    Identification of a functional susceptibility variant for adolescent idiopathic scoliosis that upregulates EGR1-mediated UNCX expression.
    J Bone Miner Res 2022 [Online ahead of print]
17. Xue JY, Ikegawa S, Guo L.
    SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.
    Bone 2022 [Online ahead of print]

Article

1. Boer CG, Hatzikotoulas K, Southam L, Stefánsdóttir L, Zhang Y, Coutinho de Almeida R, Wu TT, Zheng J, Hartley A, Teder-Laving M, Skogholt AH, Terao C, Zengini E, Alexiadis G, Barysenka A, Bjornsdottir G, Gabrielsen ME, Gilly A, Ingvarsson T, Johnsen MB, Jonsson H, Kloppenburg M, Luetge A, Lund SH, Mägi R, Mangino M, Nelissen RRGHH, Shivakumar M, Steinberg J, Takuwa H, Thomas LF, Tuerlings M; arcOGEN Consortium; HUNT All-In Pain; ARGO Consortium; Regeneron Genetics Center, Babis GC, Cheung JPY, Kang JH, Kraft P, Lietman SA, Samartzis D, Slagboom PE, Stefansson K, Thorsteinsdottir U, Tobias JH, Uitterlinden AG, Winsvold B, Zwart JA, Davey Smith G, Sham PC, Thorleifsson G, Gaunt TR, Morris AP, Valdes AM, Tsezou A, Cheah KSE, Ikegawa S, Hveem K, Esko T, Wilkinson JM, Meulenbelt I, Lee MTM, van Meurs JBJ, Styrkársdóttir U, Zeggini E.
   Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
   Cell 184(18):4784-4818, 2021.
2. Hiroyuki Suetsugu H, Kim K , Yamamoto T, Bang SY, Sakamoto Y, Shin JM, Sugano N, Kim JS, Mukai M, Lee YK , Ohmura K, Park DJ , Takahashi D, Ahn GY, Karino K, Kwon YC, Miyamura T, Kim J, Nakamura J, Motomura G, Kuroda T, Niiro H, Miyamoto T, Takeuchi T, Ikari K, Amano K, Tada Y, Yamaji K, Shimizu M, Atsumi T, Seki T, Tanaka Y, Kubo T, Hisada R, Yoshioka T, Yamazaki M, Kabata T, Kajino T, Ohta Y, Okawa T, Naito Y, Kaneuji A, Yasunaga Y, Ohzono K, Tomizuka K, Koido M, Matsuda K, Okada Y, Suzuki A, Kim BJ, Kochi Y, Lee HS, Ikegawa S, Bae SC , Chikashi Terao C.
   Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus. Hum Mol Genet 2021 [Online ahead of print]
3. Li J, Sun Z, Lv Z, Jiang H, Liu A, Wang M, Tan G, Guo H, Sun H, Wu R, Xu X, Yan W, Jiang Q, Ikegawa S, Shi D.
   Microtubule stabilization enhances the chondrogenesis of synovial mesenchymal stem cells.
   Front Cell Dev Biol 9:748804, 2021.
4. Otomo N, Lu HF, Koido M, Kou I, Takeda K, Momozawa Y, Kubo M, Kamatani Y, Ogura Y, Takahashi Y, Nakajima M, Minami S, Uno K, Kawakami N, Ito M, Sato T, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Nakamura M, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Kaneko K, Inami S, Kochi Y, Chang WC, Matsumoto M, Watanabe K, Ikegawa S, Terao C.
   Polygenic risk score of adolescent idiopathic scoliosis for potential clinical use.
   J Bone Miner Res 36(8):1481-1491, 2021.
5. Lv Z, Yang YX, Li J, Fei Y, Guo H, Sun Z, Lu J, Xu X, Jiang Q, Ikegawa S, Shi D.
   Molecular classification of knee osteoarthritis.
   Front Cell Dev Biol 9:725568, 2021.
6. Jokoji G, Maeda S, Oishi K, Ijuin T, Nakajima M, Tawaratsumida H, Kawamura I, Tominaga H, Taketomi E, Ikegawa S, Taniguchi N.
   CDC5L promotes early chondrocyte differentiation and proliferation by modulating pre-mRNA splicing of SOX9, COL2A1, and WEE1.
   J Biol Chem 2021 [Online ahead of print]
7. Wang R, Li J, Xu X, Xu J, Jiang H, Lv Z, Wu R, Sun Z, Guo W, Sun Y, Ikegawa S, Jiang Q, Shi D.
   Andrographolide attenuates synovial inflammation of osteoarthritis by interacting with tumor necrosis factor receptor 2 trafficking in a rat model.
   J Orthop Translat 29:89-99, 2021.
8. Tanaka N, Koido M, Suzuki A, Otomo N, Suetsugu H, Kochi Y, Tomizuka K, Momozawa Y, Kamatani Y; Biobank Japan Project, Ikegawa S, Yamamoto K, Terao C.
   Eight novel susceptibility loci and putative causal variants in atopic dermatitis.
   J Allergy Clin Immunol S0091-6749(21):00660-6, 2021.
9. Guo L, Ikegawa S.
   From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
   J Hum Genet 66(12):1139-1144, 2021.
10. Mäkitie RE, Pekkinen M, Morisada N, Kobayashi D, Yonezawa Y, Nishimura G, Ikegawa S, Mäkitie O.
    A novel IFITM5 variant associated with phenotype of osteoporosis with Calvarial doughnut lesions: A case report.
    Calcif Tissue Int 109(6):626-632, 2021.
11. Lv Z, Xu X, Sun Z, Yang YX, Guo H, Li J, Sun K, Wu R, Xu J, Jiang Q, Ikegawa S, Shi D.
    TRPV1 alleviates osteoarthritis by inhibiting M1 macrophage polarization via Ca ²⁺/CaMKII/Nrf2 signaling pathway.
    Cell Death Dis 12(6):504, 2021.
12. Chang L, Liu A, Xu J, Xu X, Dai J, Wu R, Yan W, Wang R, Sun Z, Ikegawa S, Jiang Q, Shi D.
    TDP-43 maintains chondrocyte homeostasis and alleviates cartilage degradation in osteoarthritis.
    Osteoarthritis Cartilage 29(7):1036-1047, 2021.
13. Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S.
    Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
    Nat Commun 6;12(1):2046, 2021.
14. Pretemer Y, Kawai S, Nagata S, Nishio M, Watanabe M, Tamaki S, Alev C, Yamanaka Y, Xue JY, Wang Z, Fukiage K, Tsukanaka M, Futami T, Ikegawa S, Toguchida J.
    Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias.
    Stem Cell Reports 9;16(3):610-625, 2021.
15. Endo T, Imagama S, Kato S, Kaito T, Sakai H,?Ikegawa S, Kawaguchi Y, Kanayama M, Hisada Y, Koike Y, Ando K, Kobayashi K, Oda I, Okada K, Takagi R, Iwasaki N, Takahata M.
    Association between vitamin A intake and disease severity in early-onset heterotopic ossification of the posterior longitudinal ligament of the spine.
    Global Spine J 2021 [Online ahead of print]
16. Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L.
    Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
    J Hum Genet 66(6):607-611, 2021.
17. Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Laurynenka V, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang Y, Amano K, Park DJ, Yang W, Tada Y, Yamaji K, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y; Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head, Kottyan LC, Weirauch MT, Parameswaran S, Eswar S, Salim H, Chen X, Yamamoto K, Harley JB, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC.
    Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.
    Ann Rheum Dis 80(5):632-640, 2021.
18. Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N.?
    Efficient detection of copy-number variations using exome data: batch- and sex-based analyses.
    Hum Mutat 42(1):50-65, 2021.
19. Xue JY, Wang Z, Smithson SF, Burren CP, Matsumoto N, Nishimura G, Ikegawa S, Guo L.
    The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
    J Hum Genet 66(4):371-377, 2021.

Book

1. Ikegawa S.
   A short history of genetic study of OPLL
   A.Okawa, M.Matsumoto, M.Iwasaki, Y.Kawaguchi.
   OPLL, 3nd Edit. Springer-Verlag Tokyo, pp. 55-60, 2020.

Article

1. Matsuda M, Yamanaka Y, Uemura M, Osawa M, Saito MK, Nagahashi A, Nishio M, Guo L, Ikegawa S, Sakurai S, Kihara S, Maurissen TL, Nakamura M, Matsumoto T, Yoshitomi H, Ikeya M, Kawakami N, Yamamoto T, Woltjen K, Ebisuya M, Toguchida J, Alev C.
   Recapitulating the human segmentation clock with pluripotent stem cells.
   Nature 580(7801):124-129, 2020.
2. Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y.
   Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
   Nat Genet 52(7):669-679, 2020.
3. Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N, Hayashi N, Yokoi D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Kanai K, Hattori N, Morita M, Taniguchi A, Kano O, Oda M, Shibuya K, Kuwabara S, Suzuki N, Aoki M, Ohta Y, Yamashita T, Abe K, Hashimoto R, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Okada Y, Ishihara T, Onodera O, Nakashima K, Kaji R, Kamatani Y, Ikegawa S, Momozawa Y, Kubo M, Ishida N, Minegishi N, Nagasaki M, Sobue G.
   A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
   Commun Biol 3(1):526, 2020.
4. Xue JY, Ikegawa S, Guo L.
   Genetic disorders associated with the RANKL/OPG/RANK pathway.
   J Bone Miner Metab [Epub ahead of print]
5. Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Murakami Y, Kubo M, Kamatani Y, Okada Y.
   GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits.
   Nat Hum Behav 4(3):308-316, 2020.
6. Lin M, Zhao S, Liu G, Huang Y, Yu C, Zhao Y, Wang L, Zhang Y, Yan Z, Wang S, Liu S, Liu J, Ye Y, Chen Y, Yang X, Tong B, Wang Z, Yang X, Niu Y, Li X, Wang Y, Su J, Yuan J, Zhao H, Zhang S, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Ikegawa S, Zhang J, Wu Z, Wu N.
   Identification of novel FBN1 variations implicated in congenital scoliosis
   J Hum Genet 65(3):221-230, 2020.
7. Sato T, Kojima T, Samura O, Kawaguchi S, Nakamura A, Nakajima M, Tanuma-Takahashi A, Nakabayashi K, Hata K, Ikegawa S, Nishimura G, Okamoto A, Yamada T.
   Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.
   Am J Med Genet A 182(4):735-739, 2020.
8. Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A.
   Genome sequencing in persistently unsolved white matter disorders.
   Ann Clin Transl Neurol 7(1):144-152, 2020.
9. Kodama K, Takahashi H, Oiji N, Nakano K, Okamura T, Niimi K, Takahashi E, Guo L, Ikegawa S, Furuichi T.
   CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.
   FEBS Open Bio. (6):1096-1103, 2020.

Article

1. Furuichi T, Tsukamoto M, Saito M, Sato Y, Oiji N, Yagami K, Fukumura R, Gondo Y, Guo L, Ikegawa S, Yamamori Y, Tomii K.
   Crim1^C140S mutant mice reveal the importance of cysteine 140 in the internal region 1 of CRIM1 for its physiological functions.
   Mamm Genome 30(11-12):329-338, 2019.
2. Takuwa H, Uchio Y, Ikegawa S.
   Genome-wide association study of knee osteoarthritis: present and future.
   Annals of Joint Vol 3 (July 2018), 2019.
3. Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, Matsuda K, Ikegawa S, Takahashi A, Kanai M, Suzuki S, Matsui D, Naito M, Yamaji T, Iwasaki M, Sawada N, Tanno K, Sasaki M, Hozawa A, Minegishi N, Wakai K, Tsugane S, Shimizu A, Yamamoto M, Okada Y, Murakami Y, Kubo M, Kamatani Y.
   Characterizing rare and low-frequency height-associated variants in the Japanese population.
   Nat Commun 10(1):4393, 2019.
4. Kou I, Otomo N, Takeda K, Momozawa Y, Lu HF, Kubo M, Kamatani Y, Ogura Y, Takahashi Y, Nakajima M, Minami S, Uno K, Kawakami N, Ito M, Yonezawa I, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Nakamura M, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Sato T, Inami S, Matsumoto M, Terao C, Watanabe K, Ikegawa S.
   Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
   Nat Commun 10(1):3685, 2019.
5. Takeda K, Kou I, Hosogane N, Otomo N, Yagi M, Kaneko S, Kono H, Ishikawa M, Takahashi Y, Ikegami T, Nojiri K, Okada E, Funao H, Okuyama K, Tsuji T, Fujita N, Nagoshi N, Tsuji O, Ogura Y, Ishii K, Nakamura M, Matsumoto M, Ikegawa S, Watanabe K.
   Association of susceptibility genes for adolescent idiopathic scoliosis and intervertebral disc degeneration with adult spinal deformity.
   Spine (Phila Pa 1976) 44(23):1623-1629, 2019.
6. Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T.
   Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
   Eur J Hum Genet (12):1845-1857, 2019.
7. Deguchi T, Hashizume H, Nakajima M, Teraguchi M, Akune T, Yamada H, Tanaka S, Yoshimura N, Nojima M, Yoshida M, Ikegawa S.
   A population-based study identifies an association of THBS2 with intervertebral disc degeneration.
   Osteoarthritis Cartilage 27(10):1501-1507, 2019.
8. Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L.
   TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the phenotypic spectrum.
   J Bone Miner Res 34(10):1873-1879, 2019.
9. Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y.
   GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture.
   Nat Hum Behav 3(5):471-477, 2019.
10. Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S.
    Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
    J Med Genet 56(9):622-628, 2019.
11. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.
    Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation.
    Am J Hum Genet 104(5):925-935, 2019.
12. Suzuki K, Akiyama M, Ishigaki K, Kanai M, Hosoe J, Shojima N, Hozawa A, Kadota A, Kuriki K, Naito M, Tanno K, Ishigaki Y, Hirata M, Matsuda K, Iwata N, Ikeda M, Sawada N, Yamaji T, Iwasaki M, Ikegawa S, Maeda S, Murakami Y, Wakai K, Tsugane S, Sasaki M, Yamamoto M, Okada Y, Kubo M, Kamatani Y, Horikoshi M, Yamauchi T, Kadowaki T.
    Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
    Nat Genet (3):379-386, 2019.
13. Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, M?kitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ.
    Hypomorphic mutations in TONSL cause SPONASTRIME dysplasia.
    Am J Hum Genet 104(3):439-453, 2019.
14. Lu HF, Hung KS, Chu HW, Wong HS, Kim J, Choi BY, Kim MK, Tai YT, Ikegawa S, Cho EC, Chang WC.
    A meta-analysis of genome-wide association studies identifies three loci associated with stiffness index of the calcaneus.
    J Bone Miner Res 34(7):1275-1283, 2019.
15. Takeda K, Kou I, Otomo N, Grauers A, Fan YH, Ogura Y, Takahashi Y, Momozawa Y, Einarsdottir E, Kere J, Japan Scoliosis Clinical Research Group (JSCRG), Matsumoto M, Qiu Y, Song YQ, Paul Gerdhem P, Watanabe K, Ikegawa S.
    A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.
    J Hum Genet 64(5):493-498, 2019.
16. Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S.
    Identification of novel LFNG mutations in spondylocostal dysostosis.
    J Hum Genet 64(3):261-264, 2019.
17. Yan W, Hao Z, Tang S, Dai J, Zheng L, Yu P, Yan W, Han X, Xu X, Shi D, Ikegawa S, Teng H, Jiang Q.
    A genome-wide association study identifies new genes associated with developmental dysplasia of the hip.
    Clin Genet 95(3):345-355, 2019.
18. Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G.
    TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
    Genet Med (7):1548-1558, 2019.

Book

1. Guo L, Ikegawa S, Shukunami C.
   Emergence of zebrafish as a model system for understanding human scoliosis
   Hirata H, IIda A (eds)
   Zebrafish, medaka, and other small fishes. Springar, Singapore. pp. 217-234, 2018.
2. Wise C, Ikegawa S.
   Current understanding of genetic factors in idiopathic scoliosis
   Kusumi K, Dunwoodie SL (eds)
   The genetics and development of scoliosis (2nd Edit.) Springer, Cham, Switzerland. pp. 139-158, 2018.

Article

1. Kinoshita Y, Takashi Y, Ito N, Ikegawa S, Mano H, Ushiku T, Fukayama M, Nangaku M, Fukumoto S.
   Ectopic expression of Klotho in fibroblast growth factor 23 (FGF23)-producing tumors that cause tumor-induced rickets/osteomalacia (TIO).
   Bone Rep eCollection 2019 Jun, 2018.
2. Lu HF, Wong HS, Chen BK, Liao HT, Hsu YW, Ikegawa S, Cho EC, Hung KS, Chang WC.
   Integrative genomic analysis for the functional roles of ITPKC in bone mineral density.
   Biosci Rep 38(6), 2018.
3. Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA.
   Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
   Hum Mol Genet 27(22):3986-3998, 2018.
4. Ogura Y, Matsumoto M, Ikegawa S, Watanabe K.
   Epigenetics for curve progression of adolescent idiopathic scoliosis.
   EBioMedicine S2352-3964(18)30426-2, 2018.
5. Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S.
   Screening of known disease genes in congenital scoliosis.
   Mol Genet Genomic Med 6(6):966-974, 2018.
6. Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y.
   Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
   Nat Genet 50(3):390-400, 2018.
7. Zhou X, Cheung CL, Karasugi T, Karppinen J, Samartzis D, Hsu YH, Mak TS, Song YQ, Chiba K, Kawaguchi Y, Li Y, Chan D, Cheung KM, Ikegawa S, Cheah KS, Sham PC.
   Trans-Ethnic polygenic analysis supports genetic overlaps of lumbar disc degeneration with height, body mass index, and bone mineral density.
   Front Genet 9:267, 2018.
8. Kou I, Watanabe K, Takahashi Y, Momozawa Y, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Takeda K, Ogura Y, Zhou T, Iwasaki Y, Kubo M, Wu Z, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Ikegawa S.
   A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.
   Sci Rep 8(1):11575, 2018.
9. Ogura Y, Takeda K, Kou I, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Zhou T, Wu Z, Takahashi Y, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Xu L, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Watanabe K, Ikegawa S.
   An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis.
   Sci Rep 16;8(1):4730, 2018.
10. Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study, Zhang F, Wu Z, Lupski JR, Wu N. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
    Hum Genet 137(6-7):553-567, 2018.
11. Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K.
    Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
    J Hum Genet 63(9):1003-1007, 2018.
12. Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.
    Dysosteosclerosis is also caused by TNFRSF11A mutation.
    J Hum Genet 63(6):769-774, 2018.
13. Ushijima T, Kawaguchi K, Matsumoto T, Takagi M, Kondoh T, Nishimura G, Iida A, Ikegawa S, Haga N, Kato G.
    Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report.
    BMC Res Notes 11(1):106, 2018.
14. Ogura Y, Yabuki S, Fujibayashi S, Okada E, Iwanami A, Watanabe K, Nakamura M, Matsumoto M, Ishii K, Ikegawa S.
    A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst.
    J Orthop Sci S0949-2658(18)30035-6, 2018.
15. Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA.
    Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
    Am J Med Genet A 176(1):253-256, 2018.
16. Takahashi Y, Kou I, Ogura Y, Miyake A, Takeda K, Nakajima M, Minami S, Kawakami N, Uno K, Ito M, Yonezawa I, Kaito T, Yanagida H, Watanabe K, Taneichi H, Harimaya K, Taniguchi Y, Kotani T, Tsuji T, Suzuki T, Sudo H, Fujita N, Yagi M, Chiba K, Kono K, Sakuma T, Akazawa T, Nishida K, Kakutani K, Shigematsu H, Iida T, Demura S, Hosogane N, Okada E, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.
    A replication study for the association of rs11190870 with curve severity in adolescent idiopathic scoliosis in Japanese.
    Spine (Phila Pa 1976) 43(10):688-692, 2018.

Article

1. Akiyama M, Okada Y, Kanai M, Takahashi A, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Iwasaki M, Yamaji T, Sawada N, Hachiya T, Tanno K, Shimizu A, Hozawa A, Minegishi N, Tsugane S, Yamamoto M, Kubo M, Kamatani Y.
   Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
   Nat Genet 49(10):1458-1467, 2017.
2. Einarsdottir E, Grauers A, Wang J, Jiao H, Escher SA, Danielsson A, Simony A, Andersen M, Christensen SB, ?kesson K, Kou I, Khanshour AM, Ohlin A, Wise C, Ikegawa S, Kere J, Gerdhem P.
   CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.
   PLoS One 12(12):e0189591, 2017.
3. Sakamoto Y, Yamamoto T, Sugano N, Takahashi D, Watanabe T, Atsumi T, Nakamura J, Hasegawa Y, Akashi K, Narita I, Miyamoto T, Takeuchi T, Ikari K, Amano K, Fujie A, Kubo T, Tada Y, Kaneuji A, Nakamura H, Miyamura T, Kabata T, Yamaji K, Okawa T, Sudo A, Ohzono K, Tanaka Y, Yasunaga Y, Matsuda S, Imai Y; Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head, Akiyama M, Kubo M, Kamatani Y, Iwamoto Y, Ikegawa S.
   Genome-wide association study of idiopathic osteonecrosis of the femoral head.
   Sci Rep 7(1):15035, 2017.
4. HammarsjÖ A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.
   Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
   Sci Rep 7(1):15585, 2017.
5. Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S.
   Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.
   Hum Genome Var:eCollection, 2017.
6. Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.
   Response to Lefebvre et al.
   Clin Genet 92(5):563-564, 2017.
7. Ogura Y, Kou I, Takahashi Y, Takeda K, Minami S, Kawakami N, Uno K, Ito M, Yonezawa I, Kaito T, Yanagida H, Watanabe K, Taneichi H, Harimaya K, Taniguchi Y, Kotani T, Tsuji T, Suzuki T, Sudo H, Fujita N, Yagi M, Chiba K, Kubo M, Kamatani Y, Nakamura M, Matsumoto M; Japan Scoliosis Clinical Research Group, Watanabe K, Ikegawa S; Japan Scoliosis Clinical Research Group.
   A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.
   Hum Mol Genet 26(20):4086-4092, 2017.
8. Makino H, Kawaguchi Y, Seki S, Nakano M, Yasuda T, Suzuki K, Ikegawa S, Kimura T.
   Lumbar disc degeneration progression in young women in their 20's: A prospective ten-year follow up.
   J Orthop Sci 22(4):635-640, 2017.
9. Guo L, Elcioglu NH, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.
   Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
   J Hum Genet 62(8):797-801, 2017.
10. Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, M?ller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR.
    Chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) deficiency results in a mild skeletal dysplasia and joint laxity.
    Hum Mutat 38(1):34-38, 2017.
11. Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.
    Compound heterozygosity for null mutations and a common hypomorphic risk haplotype in TBX6 causes congenital scoliosis.
    Hum Mutat 38(3):317-323, 2017.
12. Ichimura S, Sasaki S, Murata T, Fukumura R, Gondo Y, Ikegawa S, Furuichi T.
    An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes.
    Exp Anim 66(2):137-144, 2017.
13. Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S.
    Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
    J Hum Genet 62(4):503-506, 2017.
14. Sakamoto Y, Yamamoto T, Miyake N, Matsumoto N, Iida A, Nakashima Y; Research Committee on Idiopathic Osteonecrosis of the Femoral Head of the Ministry of Health, Labour, Welfare of Japan, Iwamoto Y, Ikegawa S.
    Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.
    J Orthop Res 35(4):768-774, 2017.
15. Guo L, Elcioglu NH, Iida A, Demirkol YK, Aras S, Matsumoto N, Nishimura G, Miyake N, Ikegawa S.
    Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
    J Hum Genet 62(3):447-451, 2017.
16. Guo L, Girisha KM, Iida A, Hebbar M, Shukla A, Shah H, Nishimura G, Matsumoto N, Nismath S, Miyake N, Ikegawa S.
    Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.
    J Hum Genet 62(3):437-441, 2017.

Article

1. Kim BJ, Ahn SH, Kim HM, Ikegawa S, Yang TL, Guo Y, Deng HW, Koh JM, Lee SH.
   Replication of Caucasian loci associated with osteoporosis-related traits in east Asians.
   J Bone Metab 23(4):233-242, 2016.
2. Yan W, Dai J, Xu Z, Shi D, Chen D, Xu X, Song K, Yao Y, Li L, Ikegawa S, Teng H, Jiang Q.
   Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families.
   Hum Genome Var 3:16041, 2016.
3. Goyal M, Kapoor S, Ikegawa S, Nishimura G.
   Stickler syndrome type 1 with short stature and atypical ocular manifestations.
   Case Reports in Pediatrics 2016, Article ID 3198597, 2016.
4. Zhang Y, Fukui N, Yahata M, Katsuragawa Y, Tashiro T, Ikegawa S, Lee MT.
   Identification of DNA methylation changes associated with disease progression in subchondral bone with site-matched cartilage in knee osteoarthritis.
   Sci Rep 6:34460, 2016.
5. Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, Thangaraj K, Wise CA, Ikegawa S, Pandita KK, Sharma S.
   Whole exome screening identifies novel and recurrent WISP3 mutations causing progressive pseudorheumatoid dysplasia in Jammu and Kashmir-India.
   Sci Rep 6:27684, 2016.
6. Ikegawa S.
   Genomic study of adolescent idiopathic scoliosis in Japan.
   Scoliosis Spinal Disord 11:5, 2016.
7. Nakajima M, Kou I, Ohashi H; Genetic Study Group of the Investigation Committee on the Ossification of Spinal Ligaments, Ikegawa S.
   Identification and functional characterization of RSPO2 as a susceptibility gene for ossification of the posterior longitudinal ligament of the spine.
   Am J Hum Genet 99(1):202-7, 2016.
8. Cho SY, Bae JS, Kim NK, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK.
   BGN mutations in X-Linked spondyloepimetaphyseal dysplasia.
   Am J Hum Genet 98(6):1243-8, 2016.
9. Nishimura G, Nakajima M, Takikawa K, Haga N, Ikegawa S.
   Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.
   Am J Med Genet A 170(8):2212-4, 2016.
10. Nakashima Y, Sakamoto Y, Nishimura G, Ikegawa S, Iwamoto Y.
    A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity.
    Hum Genome Var 3:16007, 2016.
11. Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S.
    Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
    J Med Genet 53(8):568-74, 2016.
12. Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD collaboration, KÜhl SJ, Kini U, McNeill A.
    Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
    J Med Genet 3(3):152-62, 2016.
13. Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S.
    Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations.
    PLoS One 11(3):e0150555, 2016.
14. Sakamoto Y, Yamamoto T, Kajino Y, Kabata T, Tsuchiya H, Miyake N, Iwamoto Y, Matsumoto N, Ikegawa S.
    Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.
    J Orthop Sci S0949-2658(16)00017-8, 2016.
15. Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S.
    Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
    Am J Med Genet A 170(2):460-5, 2016.
16. Guo L, Yamashita H, Kou I, Takimoto A, Meguro-Horike M, Horike S, Sakuma T, Miura S, Adachi T, Yamamoto T, Ikegawa S, Hiraki Y, Shukunami C.
    Functional investigation of a non-coding variant associated with adolescent idiopathic scoliosis in zebrafish: elevated expression of the ladybird homeobox gene causes body axis deformation.
    PLoS Genet 12(1):e1005802, 2016.
17. Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S, Iida A, Ikegawa S, Kubo M, Yokoi D, Watanabe H, Ito M, Katsuno M, Izumi Y, Morita M, Kanai K, Taniguchi A, Aiba I, Abe K, Mizoguchi K, Oda M, Kano O, Okamoto K, Kuwabara S, Hasegawa K, Imai T, Kawata A, Aoki M, Tsuji S, Nakashima K, Kaji R, Sobue G.
    A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.
    J Neurol Neurosurg Psychiatry jnnp-2015-311541, 2016.

Article

1. Zhang Y, Fukui N, Yahata M, Katsuragawa Y, Tashiro T, Ikegawa S, Michael Lee MT.
   Genome-wide DNA methylation profile implicates potential cartilage regeneration at the late stage of knee osteoarthritis.
   Osteoarthritis Cartilage S1063-4584(15)01436-3, 2015.
2. Ogura Y, Fujibayashi S, Iida A, Kou I, Nakajima M, Okada E, Toyama Y, Iwanami A, Ishii K, Nakamura M, Matsumoto M, Ikegawa S.
   A novel FOXC2 mutation in spinal extradural arachnoid cyst.
   Human Genome Variation 2:15032, 2015.
3. Kimura M, Ichimura S, Sasaki K, Masuya H, Suzuki T, Wakana S, Ikegawa S, Furuichi T.
   Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
   Biochem Biophys Res Commun 468(1-2):86-91, 2015.
4. Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S.
   Identification of HOXD4 mutations in spinal extradural arachnoid cyst.
   PLoS One 10(11):e0142126, 2015.
5. Ogura Y, Kou I, Miura S, Takahashi A, Xu L, Takeda K, Takahashi Y, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yonezawa I, Yanagida H, Taneichi H, Zhu Z, Tsuji T, Suzuki T, Sudo H, Kotani T, Watanabe K, Hosogane N, Okada E, Iida A, Nakajima M, Sudo A, Chiba K, Hiraki Y, Toyama Y, Qiu Y, Shukunami C, Kamatani Y, Kubo M, Matsumoto M, Ikegawa S.
   A functional SNP in BNC2 is associated with adolescent idiopathic scoliosis.
   Am J Hum Genet 97(2):337-42, 2015.
6. Singh A, Kim OH, Iida A, Park WY, Ikegawa S, Kapoor S.
   A novel CANT1 mutation in three Indian patients with desbuquois dysplasia Kim type.
   Eur J Med Genet 58(2):105-10, 2015.
7. Okada M, Ikegawa S, Morioka M, Yamashita A, Saito A, Sawai H, Murotsuki J, Ohashi H, Okamoto T, Nishimura G, Imaizumi K, Tsumaki N.
   Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.
   Hum Mol Genet 24(2):299-313, 2015.
8. Hou H, Zheng K, Wang G, Ikegawa S, Zheng M, Gao X, Qin J, Teng H, Jiang Q.
   Influence of intra-articular administration of trichostatin a on autologous osteochondral transplantation in a rabbit model.
   Biomed Res Int 2015:470934, 2015.
9. Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R; TSRHC Scoliosis Clinical Group; Japan Scoliosis Clinical Research Group, Herring JA, Burns D, Ahituv N, Ikegawa S, Gordon D, Wise CA.
   A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.
   Nat Commun 6:6452, 2015.
10. Lucas-Herald A1, Kinning E, Iida A, Wang Z, Miyake N, Ikegawa S, McNeilly J, Faisal Ahmed S.
    A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.
    J Clin Endocrinol Metab 100(4):1221-4, 2015.
11. Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK.
    Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
    Hum Mutat 36(2):191-5, 2015.

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Article

1. Ikegawa S.
   Genomic study of ossification of the posterior longitudinal ligament of the spine.
   Proc Jpn Acad Ser B Phys Biol Sci 90(10):405-12, 2014.
2. Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura KI, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T.
   Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
   Orphanet J Rare Dis 9(1):125, 2014.
3. Yamashita A, Morioka M, Kishi H, Kimura T, Yahara Y, Okada M, Fujita K, Sawai H, Ikegawa S, Tsumaki N.
   Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
   Nature 513(7519):507-511, 2014.
4. Wen YF, Wei JC, Hsu YW, Chiou HY, Wong HS, Wong RH, Ikegawa S, Chang WC.
   rs10865331 Associated with susceptibility and disease severity of ankylosing spondylitis in a Taiwanese population.
   PLoS One 9(9):e104525, 2014.
5. Nakajima M, Takahashi A, Tsuji T, Karasugi T, Baba H, Uchida K, Kawabata S, Okawa A, Shindo S, Takeuchi K, Taniguchi Y, Maeda S, Kashii M, Seichi A, Nakajima H, Kawaguchi Y, Fujibayashi S, Takahata M, Tanaka T, Watanabe K, Kida K, Kanchiku T, Ito Z, Mori K, Kaito T, Kobayashi S, Yamada K, Takahashi M, Chiba K, Matsumoto M, Furukawa KI, Kubo M, Toyama Y;Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments, Ikegawa S.
   A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
   Nat Genet 46(9):1012-6, 2014.
6. Bin BH, Hojyo S, Hosaka T, Bhin J, Kano H, Miyai T, Ikeda M, Kimura-Someya T, Shirouzu M, Cho EG, Fukue K, Kambe T, Ohashi W, Kim KH, Seo J, Choi DH, Nam YJ, Hwang D, Fukunaka A, Fujitani Y, Yokoyama S, Superti-Furga A, Ikegawa S, Lee TR, Fukada T.
   Molecular pathogenesis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.
   EMBO Mol Med 6(8):1028-42, 2014.
7. Ikegawa S.
   Genetics of ossification of the posterior longitudinal ligament of the spine: a mini review.
   J Bone Metab 21(2):127-32, 2014.
8. Ben-Omran T, Lakhani S, Almureikhi M, Ali R, Takahashi A, Miyake N, Matsumoto N, Ikegawa S, Superti-Furga A, Unger S.
   Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.
   Am J Med Genet A 164(9):2147-52, 2014.
9. Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N.
   Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
   Am J Med Genet A 164(9):2398-402, 2014.
10. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N.
    De novo SOX11 mutations cause Coffin-Siris syndrome.
    Nat Commun 5:4011, 2014.
11. Londono D, Kou I, Johnson TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group, TSRHC IS Clinical Group, the International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA.
    A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.
    J Med Genet 51(6):401-6, 2014.
12. Seki S, Tsumaki N, Motomura H, Nogami M, Kawaguchi Y, Hori T, Suzuki K, Yahara Y, Higashimoto M, Oya T, Ikegawa S, Kimura T.
    Cartilage intermediate layer protein promotes lumbar disc degeneration.
    Biochem Biophys Res Commun 446(4):876-81, 2014.
13. Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK.
    Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
    Skeletal Radiol 43:359-69, 2014.

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Book

1. Ikegawa S, Nakashima M, Matsumoto N.
   TGF-β and genetic skeletal diseases.
   Moustakas A, Miyazawa K (eds)
   TGF-β in human disease. Springer, Tokyo, Japan. pp. 371-90, 2013.

Article

1. Ogura Y, Yabuki S, Iida A, Kou I, Nakajima M, Kano H, Shiina M, Kikuchi S, Toyama Y, Ogata K, Nakamura M, Matsumoto M, Ikegawa S.
   FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.
   PLoS One 8(11):e80548, 2013.
2. Song YQ, Karasugi T, Cheung KM, Chiba K, Ho DW, Miyake A, Kao PY, Sze KL, Yee A, Takahashi A, Kawaguchi Y, Mikami Y, Matsumoto M, Togawa D, Kanayama M, Shi D, Dai J, Jiang Q, Wu C, Tian W, Wang N, Leong JC, Luk KK, Yip SP, Cherny SS, Wang J, Mundlos S, Kelempisioti A, Eskola PJ, Männikkö M, Mäkelä P, Karppinen J, Järvelin MR, O'Reilly PF, Kubo M, Kimura T, Kubo T, Toyama Y, Mizuta H, Cheah KS, Tsunoda T, Sham PC, Ikegawa S, Chan D.
   Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.
   J Clin Invest 123(11):4909-17, 2013.
3. Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.
   Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
   Proc Natl Acad Sci USA 110(40):16139-44, 2013.
4. Miyake A, Kou I, Takahashi Y, Johnson TA, Ogura Y, Dai J, Qiu X, Takahashi A, Jiang H, Yan H, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Hosono N, Tsuji T, Suzuki T, Sudo H, Kotani T, Yonezawa I, Kubo M, Tsunoda T, Watanabe K, Chiba K, Toyama Y, Qiu Y, Matsumoto M, Ikegawa S.
   Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
   PLoS One 8(9):e72802, 2013.
5. Ikegawa S.
   The genetics of common degenerative skeletal disorders: osteoarthritis and degenerative disc disease.
   Annu Rev Genomics Hum Genet 14:245-56, 2013.
6. Iida A, Simsek-Kiper PO, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Unite GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.
   Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
   Hum Mutat 34(10):1381-6, 2013.
7. Kim OH, Jin DK, Kosaki K, Kim JW, Cho SY, Yoo WJ, Choi IH, Nishimura G, Ikegawa S, Cho TJ.
   Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients.
   Am J Med Genet A 161(8):1972-9, 2013.
8. Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, Dai J, Qiu X, Sharma S, Takimoto A, Ogura Y, Jiang H, Yan H, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Hosono N, Tsuji T, Suzuki T, Sudo H, Kotani T, Yonezawa I, Londono D, Gordon D, Herring JA, Watanabe K, Chiba K, Kamatani N, Jiang Q, Hiraki Y, Kubo M, Toyama Y, Tsunoda T, Wise CA, Qiu Y, Shukunami C, Matsumoto M, Ikegawa S.
   Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.
   Nat Genet 45(6):676-9, 2013.
9. Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S.
   Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
   Am J Hum Genet 92(6):927-34, 2013.
10. Matsubayashi S, Ikema M, Ninomiya Y, Yamaguchi K, Ikegawa S, Nishimura G.
    COL2A1 mutation in spondylometaphyseal dysplasiaa algerian type.
    Mol Syndromol 4(3):148-51, 2013.
11. Ogura Y, Takahashi Y, Kou I, Nakajima M, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Yonezawa I, Tsuji T, Suzuki T, Sudo H, Kotani T, Watanabe K, Chiba K, Toyama Y, Matsumoto M, Ikegawa S.
    A replication study for association of 53 single mucleotide polymorphisms in a scoliosis prognostic test with progression of adolescent idiopathic scoliosis in Japanese.
    Spine (Phila Pa 1976) 38(16):1375-9, 2013.
12. Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S.
    Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
    J Hum Genet 58(6):391-4, 2013.
13. Mizumoto S, Ikegawa S, Sugahara K.
    Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
    J Biol Chem 288(16):10953-61, 2013.
14. Semba K, Araki K, Matsumoto K, Suda H, Ando T, Sei A, Mizuta H, Takagi K, Nakahara M, Muta M, Yamada G, Nakagata N, Iida A, Ikegawa S, Nakamura Y, Araki M, Abe K, Yamamura K.
    Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice.
    PLoS Genet 9(2):e1003204, 2013.
15. Karasugi T, Nakajima M, Ikari K; Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments, Tsuji T, Matsumoto M, Chiba K, Uchida K, Kawaguchi Y, Mizuta H, Ogata N, Iwasaki M, Maeda S, Numasawa T, Abumi K, Kato T, Ozawa H, Taguchi T, Kaito T, Neo M, Yamazaki M, Tadokoro N, Yoshida M, Nakahara S, Endo K, Imagama S, Demura S, Sato K, Seichi A, Ichimura S, Watanabe M, Watanabe K, Nakamura Y, Mori K, Baba H, Toyama Y, Ikegawa S.
    A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine.
    J Bone Miner Metab 31(2):136-43, 2013.
16. Ogura Y, Takahashi Y, Kou I, Nakajima M, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Yonezawa I, Tsuji T, Suzuki T, Sudo H, Kotani T, Watanabe K, Chiba K, Toyama Y, Matsumoto M, Ikegawa S.
    A replication study for association of fve single nucleotide polymorphisms with curve progression of adolescent idiopathic scoliosis in Japanese.
    Spine (Phila Pa 1976). 38(7):571-5, 2013.
17. Hwang JY, Lee SH, Go MJ, Kim BJ, Kou I, Ikegawa S, Guo Y, Deng HW, Raychaudhuri S, Kim YJ, Oh JH, Kim Y, Moon S, Kim DJ, Koo H, Cha MJ, Lee MH, Yun JY, Yoo HS, Kang YA, Cho EH, Kim SW, Oh KW, Kang MI, Son HY, Kim SY, Kim GS, Han BG, Cho YS, Cho MC, Lee JY, Koh JM.
    Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture.
    J Med Genet 50(4):212-9, 2013.
18. Wei JC, Hsu YW, Hung KS, Wong RH, Huang CH, Liu YT, Guo YC, Ikegawa S, Chang WC.
    Association study of polymorphisms rs4552569 and rs17095830 and the risk of ankylosing spondylitis in a Taiwanese population.
    PLoS One 8(1):e52801, 2013.
19. Zhou H, Mori S, Kou I, Fuku N, Naka Mieno M, Honma N, Arai T, Sawabe M, Tanaka M, Ikegawa S, Ito H.
    Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases.
    J Hum Genet 58(2):109-12, 2013.
20. Tetsuka S, Morita M, Iida A, Uehara R, Ikegawa S, Nakano I.
    ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis.
    J Neurol Sci 324(1-2):163-6, 2013.

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Article

1. Ikegawa S.
   A short history of the genome-wide association study: where we were and where we are going.
   Genomics Inform 10(4):220-5, 2012.
2. Watanabe K, Oue Y, Miyamoto Y, Matsuura M, Mizuno Y, Ikegawa S.
   Identification of a quantitative trait locus for spontaneous osteoarthritis in STR/ort mice.
   J Orthop Res 30(1):15-20, 2012.
3. Yamada T, Takagi M, Nishimura G, Akaishi R, Furuta I, Morikawa M, Yamada T, Cho K, Sawai H, Ikegawa S, Hasegawa T, Minakami H.
   Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.
   Am J Med Genet A 158A(11):2969-71, 2012.
4. Iida A, Kamei T, Sano M, Oshima S, Tokuda T, Nakamura Y, Ikegawa S.
   Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese.
   Neurobiol Aging 33(4):786-90, 2012.
5. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW.
   A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta Type V.
   Am J Hum Genet 91(2):343-8, 2012.
6. Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.
   PAPSS2 mutations cause autosomal recessive brachyolmia.
   J Med Genet 49(8):533-8, 2012.
7. Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.
   TRPV4-associated skeletal dysplasias.
   Am J Med Genet C 160(3):190-204, 2012.
8. Shi D, Dai J, Ikegawa S, Jiang Q.
   Genetic study on developmental dysplasia of the hip.
   Eur J Clin Invest 42(10):1121-5, 2012.
9. Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S.
   TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients.
   Am J Med Genet A 158A(4):795-802, 2012.
10. Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, Nakajima M, Kubo M, Nakamura Y, Ikegawa S.
    Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.
    Neurobiol Aging. 33(8):1843.e19-24, 2012.
11. Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP.
    Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
    Hum Mutat 33(4):665-73, 2012.
12. Sasagawa S, Takemori H, Uebi T, Ikegami D, Hiramatsu K, Ikegawa S, Yoshikawa H, Tsumaki N.
    SIK3 is essential for chondrocyte hypertrophy during skeletal development in mice.
    Development 139(6):1153-63, 2012.
13. Fan YH, Song YQ, Chan D, Takahashi Y, Ikegawa S, Matsumoto M, Kou I, Cheah KS, Sham P, Cheung KM, Luk KD.
    SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese.
    J Hum Genet 57(4):244-6, 2012.
14. Nakajima M, Shi D, Dai J, Tsezou A, Zheng M, Norman PE, Chou CH, Lee MT, Hwang JY, Kim DH, Takahashi A, Ikegawa S, Jiang Q.
    A large-scale replication study for the association of rs17039192 in HIF-2α with knee osteoarthritis.
    J Orthop Res 30(8):1244-8, 2012.

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Article

1. Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovich G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, Knig R, Megarban A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonaf L.
   Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
   Am J Hum Genet 89(6):767-72, 2011.
2. Takahashi Y, Kou I, Takahashi A, Johnson TA, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Tsuji T, Suzuki T, Sudo H, Kotani T, Watanabe K, Chiba K, Hosono N, Kamatani N, Tsunoda T, Toyama Y, Kubo M, Matsumoto M, Ikegawa S.
   A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.
   Nat Genet 43(12):1237-40, 2011.
3. Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS.
   Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
   Am J Med Genet A 155A(11):2669-80, 2011.
4. Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G.
   Axial spondylometaphyseal dysplasia: Additional reports.
   Am J Med Genet A 155A(10):2521-8, 2011.
5. Watanabe K, Oue Y, Miyamoto Y, Matsuura M, Mizuno Y, Ikegawa S.
   Identification of a quantitative trait locus for spontaneous osteoarthritis in STR/ort mice.
   J Orthop Res 30(1):15-20, 2011.
6. Iida A, Takahashi A, Kubo M, Saito S, Hosono N, Ohnishi Y, Kiyotani K, Mushiroda T, Nakajima M, Ozaki K, Tanaka T, Tsunoda T, Oshima S, Sano M, Kamei T, Tokuda T, Aoki M, Hasegawa K, Mizoguchi K, Morita M, Takahashi Y, Katsuno M, Atsuta N, Watanabe H, Tanaka F, Kaji R, Nakano I, Kamatani N, Tsuji S, Sobue G, Nakamura Y, Ikegawa S.
   A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.
   Hum Mol Genet 20(18):3684-92, 2011.
7. Kou I, Takahashi A, Urano T, Fukui N, Ito H, Ozaki K, Tanaka T, Hosoi T, Shiraki M, Inoue S, Nakamura Y, Kamatani N, Kubo M, Mori S, Ikegawa S.
   Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese.
   PLoS ONE 6(5):e19641, 2011.
8. Furuichi T, Masuya H, Murakami T, Nishida K, Nishimura G, Suzuki T, Imaizumi K, Kudo T, Ohkawa K, Wakana S, Ikegawa S.
   ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
   Mamm Genome 22(5-6):318-28, 2011.
9. Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonaf L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bove JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.
   Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
   PLoS Genet 7(4):e1002050, 2011.
10. Takahashi Y, Matsumoto M, Karasugi T, Watanabe K, Chiba K, Kawakami N, Tsuji T, Uno K, Suzuki T, Ito M, Sudo H, Minami S, Kotani T, Kono K, Yanagida H, Taneichi H, Takahashi A, Toyama Y, Ikegawa S.
    Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes.
    J Orthop Res 29(6):834-7, 2011.
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    Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development.
    Proc Natl Acad Sci U S A 108(17):7058-63, 2011.
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    A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
    J Hum Genet 56(5):398-400, 2011.
13. Shi D, Dai J, Zhu P, Qin J, Zhu L, Zhu H, Zhao B, Qiu X, Xu Z, Chen D, Yi L, Ikegawa S, Jiang Q.
    Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese.
    Arthritis Res Ther 13(1):R27, 2011.
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    Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population.
    J Orthop Res 29(7):1055-8, 2011.
15. Iida A, Takahashi A, Deng M, Zhang Y, Wang J, Atsuta N, Tanaka F, Kamei T, Sano M, Oshima S, Tokuda T, Morita M, Akimoto C, Nakajima M, Kubo M, Kamatani N, Nakano I, Sobue G, Nakamura Y, Fan D, Ikegawa S.
    Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians.
    Neurobiol Aging 32(4):757.e13-4, 2011.
16. Nakajima M, Shi D, Dai J, Tsezou A, Zheng M, Norman PE, Takahashi A, Ikegawa S, Jiang Q.
    Replication studies in various ethnic populations do not support the association of the HIF-2α SNP rs17039192 with knee osteoarthritis.
    Nat Med 17(1):26-7, 2011.
17. Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H.
    SMOC1 is essential for ocular and limb development in humans and mice.
    Am J Hum Genet 88(1):30-41, 2011.
18. Evangelou E, Valdes AM, Kerkhof HJ, Styrkarsdottir U, Zhu Y, Meulenbelt I, Lories RJ, Karassa FB, Tylzanowski P, Bos SD; arcOGEN Consortium, Akune T, Arden NK, Carr A, Chapman K, Cupples LA, Dai J, Deloukas P, Doherty M, Doherty S, Engstrom G, Gonzalez A, Halldorsson BV, Hammond CL, Hart DJ, Helgadottir H, Hofman A, Ikegawa S, Ingvarsson T, Jiang Q, Jonsson H, Kaprio J, Kawaguchi H, Kisand K, Kloppenburg M, Kujala UM, Lohmander LS, Loughlin J, Luyten FP, Mabuchi A, McCaskie A, Nakajima M, Nilsson PM, Nishida N, Ollier WE, Panoutsopoulou K, van de Putte T, Ralston SH, Rivadeneira F, Saarela J, Schulte-Merker S, Shi D, Slagboom PE, Sudo A, Tamm A, Tamm A, Thorleifsson G, Thorsteinsdottir U, Tsezou A, Wallis GA, Wilkinson JM, Yoshimura N, Zeggini E, Zhai G, Zhang F, Jonsdottir I, Uitterlinden AG, Felson DT, van Meurs JB, Stefansson K, Ioannidis JP, Spector TD; Translation Research in Europe Applied Technologies for Osteoarthritis (TreatOA).
    Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.
    Ann Rheum Dis 70(2):349-55, 2011.
19. Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S.
    CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
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20. Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, Shimada T.
    Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
    J Hum Genet 56(2):166-8, 2011.
21. Kerkhof HJ, Meulenbelt I, Akune T, Arden NK, Aromaa A, Bierma-Zeinstra SM, Carr A, Cooper C, Dai J, Doherty M, Doherty SA, Felson D, Gonzalez A, Gordon A, Harilainen A, Hart DJ, Hauksson VB, Heliovaara M, Hofman A, Ikegawa S, Ingvarsson T, Jiang Q, Jonsson H, Jonsdottir I, Kawaguchi H, Kloppenburg M, Kujala UM, Lane NE, Leino-Arjas P, Lohmander LS, Luyten FP, Malizos KN, Nakajima M, Nevitt MC, Pols HA, Rivadeneira F, Shi D, Slagboom E, Spector TD, Stefansson K, Sudo A, Tamm A, Tamm AE, Tsezou A, Uchida A, Uitterlinden AG, Wilkinson JM, Yoshimura N, Valdes AM, van Meurs JB.
    Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium.
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22. Nakajima M, Miyamoto Y, Ikegawa S.
    Cloning and characterization of the osteoarthritis-associated gene DVWA.
    J Bone Miner Metab 29(3):300-8, 2011.
23. Takahashi Y, Matsumoto M, Karasugi T, Watanabe K, Chiba K, Kawakami N, Tsuji T, Uno K, Suzuki T, Ito M, Sudo H, Minami S, Kotani T, Kono K, Yanagida H, Taneichi H, Takahashi A, Toyama Y, Ikegawa S.
    Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes.
    J Orthop Res 29(6):834-7, 2011.

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1. Aoki A, Ozaki K, Sato H, Takahashi A, Kubo M, Sakata Y, Onouchi Y, Kawaguchi T, Lin TH, Takano H, Yasutake M, Hsu PC, Ikegawa S, Kamatani N, Tsunoda T, Juo SH, Hori M, Komuro I, Mizuno K, Nakamura Y, Tanaka T.
   SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population.
   J Hum Genet 56(1):47-51, 2010.
2. Takahashi H, Nakajima M, Ozaki K, Tanaka T, Kamatani N, Ikegawa S.
   Prediction model for knee osteoarthritis based on genetic and clinical information.
   Arthritis Res Ther 12(5):R187, 2010.
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   Chondroitin sulfate N-Acetylgalactosaminyltransferase-1 is required for normal cartilage development.
   Biochem J 432(1):47-55, 2010.
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   A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.
   Nat Genet 42(6):515-9, 2010.
5. Nishimura G, Dai J, Lausch E, Unger S, Megarban A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.
   Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
   Am J Med Genet A 152A(6):1443-9, 2010.
6. Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.
   TRPV4-pathy, a novel channelopathy affecting diverse systems.
   J Hum Genet 55(7):400-2, 2010.
7. Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.
   Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
   Hum Mutat 31(8):966-74, 2010.
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   A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
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   New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.
   PLoS ONE 5(3):e9723, 2010.
10. Myouzen K, Kochi Y, Shimane K, Fujio K, Okamura T, Okada Y, Suzuki A, Atsumi T, Ito S, Takada K, Mimori A, Ikegawa S, Yamada R, Nakamura Y, Yamamoto K.
    Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus.
    Hum Mol Genet 19(11):2313-20, 2010.
11. Mototani H, Iida A, Nakamura Y, Ikegawa S.
    Identification of sequence polymorphisms in CALM2 and analysis of association with hip osteoarthritis in a Japanese population.
    J Bone Miner Metab 28(5):547-53, 2010.
12. Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonaf L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR.
    Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
    N Engl J Med 362(3):206-16, 2010.
13. Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa S, Fukao T, Marcelis C, Jansweijer MCE, Hennekam RCM, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
    Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
    J Med Genet 47(10):704-9, 2010.
14. Dai J, Ikegawa S.
    Recent advances in association studies of osteoarthritis susceptibility genes.
    J Hum Genet 55(2):77-80, 2010.
15. Kou I, Nakajima M, Ikegawa S.
    Binding characteristics of the osteoarthritis-associated protein asporin.
    J Bone Miner Metab 28(4):395-402, 2010.

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1. Saito A, Hino S, Murakami T, Kanemoto S, Kondo S, Saitoh M, Nishimura R, Yoneda T, Furuichi T, Ikegawa S, Ikawa M, Okabe M, Imaizumi K.
   Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis.
   Nat Cell Biol 11(10):1197-204, 2009.
2. Murakami T, Saito A, Hino S, Kondo S, Kanemoto S, Chihara K, Sekiya H, Tsumagari K, Ochiai K, Yoshinaga K, Saitoh M, Nishimura R, Yoneda T, Kou I, Furuichi T, Ikegawa S, Ikawa M, Okabe M, Wanaka A, Imaizumi K.
   Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation.
   Nat Cell Biol 11(10):1205-11, 2009.
3. Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Llerena J Jr, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S.
   Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
   J Med Genet 46(8):562-8, 2009.
4. Evangelou E, Chapman K, Meulenbelt I, Karassa FB, Loughlin J, Carr A, Doherty M, Doherty S, Gomez-Reino JJ, Gonzalez A, Halldorsson BV, Hauksson VB, Hofman A, Hart DJ, Ikegawa S, Ingvarsson T, Jiang Q, Jonsdottir I, Jonsson H, Kerkhof HJ, Kloppenburg M, Lane NE, Li J, Lories RJ, van Meurs JB, Nakki A, Nevitt MC, Rodriguez-Lopez J, Shi D, Slagboom PE, Stefansson K, Tsezou A, Wallis GA, Watson CM, Spector TD, Uitterlinden AG, Valdes AM, Ioannidis JP.
   Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.
   Arthritis Rheum 60(6):1710-21, 2009.
5. Karasugi T, Semba K, Hirose Y, Kelempisioti A, Nakajima M, Miyake A, Furuichi T, Kawaguchi Y, Mikami Y, Chiba K, Kamata M, Ozaki K, Takahashi A, Mäkelä P, Karppinen J, Kimura T, Kubo T, Toyama Y, Yamamura KI, Männikkö M, Mizuta H, Ikegawa S.
   Association of the tag SNPs in the human SKT Gene (KIAA1217) with lumbar disc herniation.
   J Bone Miner Res 24(9):1537-43, 2009
6. Ozaki K, Sato H, Inoue K, Tsunoda T, Sakata Y, Mizuno H, Lin TH, Miyamoto Y, Aoki A, Onouchi Y, Sheu SH, Ikegawa S, Odashiro K, Nobuyoshi M, Juo SH, Hori M, Nakamura Y, Tanaka T.
   SNPs in BRAP associated with risk of myocardial infarction in Asian populations.
   Nat Genet 41(3):329-33, 2009.
7. Meulenbelt I, Chapman K, Dieguez-Gonzalez R, Shi D, Tsezou A, Dai J, Malizos KN, Kloppenburg M, Carr A, Nakajima M, van der Breggen R, Lakenberg N, Gomez-Reino JJ, Jiang Q, Ikegawa S, Gonzalez A, Loughlin J, Slagboom EP.
   Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations.
   Hum Mol Genet 18(8):1518-23, 2009.
8. Mori S, Kou I, Sato H, Emi M, Ito H, Hosoi T, Ikegawa S.
   Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis.
   J Bone Miner Metab 27(2):213-6, 2009.
9. Ni H, Shi D, Dai J, Qin J, Xu Y, Zhu L, Yao C, Shao Z, Chen D, Xu Z, Yi L, Ikegawa S, Jiang Q.
   Genetic polymorphisms of interleukin-1beta (-511C/T) and interleukin-1 receptor antagonist (86-bpVNTR) in susceptibility to knee osteoarthritis in a Chinese Han population.
   Rheumatol Int 29(11):1301-5, 2009.
10. Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk KD, Huang QY, Mori S, Sham PC, Kung AW.
    Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
    Hum Mol Genet 18(4):679-87, 2009.
11. Dieguez-Gonzalez R, Calaza M, Shi D, Meulenbelt I, Loughlin J, Tsezou A, Dai J, Malizos KN, Slagboom EP, Kloppenburg M, Chapman K, Jiang Q, Kremer D, Gomez-Reino JJ, Nakajima N, Ikegawa S, Gonzalez A.
    Testing the druggable EDG2 knee OA genetic factor for replication in a wide range of sample collections.
    Ann Rheum Dis 68(6):1017-21, 2009.

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1. Fukui N, Miyamoto Y, Nakajima M, Ikeda Y, Hikita A, Furukawa H, Mitomi H, Tanaka N, Katsuragawa Y, Yamamoto S, Sawabe M, Juji T, Mori T, Suzuki R, Ikegawa S.
   Zonal gene expression of chondrocytes in osteoarthritic cartilage.
   Arthritis Rheum 58(12):3843-53, 2008.
2. Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H, Dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckmann JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T.
   The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
   PLoS ONE 3(11): e3642, 2008.
3. Dai J, Shi D, Zhu P, Qin J, Ni H, Xu Y, Yao C, Zhu L, Zhu H, Zhao B, Wei J, Liu B, Ikegawa S, Jiang Q, Ding Y.
   Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study.
   Arthritis Res Ther 10(5):R126, 2008.
4. Shi D, Ni H, Dai J, Qin J, Xu Y, Zhu L, Yao C, Shao Z, Chen D, Xu Z, Yi L, Ikegawa S, Jiang Q.
   Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population.
   BMC Med Genet 9: 91, 2008.
5. Miyamoto Y, Shi D, Nakajima M, Ozaki K, Sudo A, Kotani A, Uchida A, Tanaka T, Fukui N, Tsunoda T, Takahashi A, Nakamura Y, Jiang Q, Ikegawa S.
   Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis.
   Nat Genet 40(8):994-8, 2008.
6. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.
   Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
   Nat Genet 40(8):999-1003, 2008.
7. Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S.
   A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.
   J Hum Genet 53(8):764-8, 2008.
8. Mori S, Kou I, Sato H, Emi M, Ito H, Hosoi T, Ikegawa S.
   Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis.
   J Hum Genet 53(8):694-7, 2008.
9. Shi D, Nakamura T, Nakajima M, Dai J, Qin J, Ni H, Xu Y, Yao C, Wei J, Liu B, Ikegawa S, Jiang Q.
   Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis.
   Arthritis Res Ther 10(3):R54, 2008.
10. Tsezou A, Furuichi T, Satra M, Makrythanasis P, Ikegawa S, Malizos KN.
    Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population.
    J Orthop Res 26(11):1466-70, 2008.
11. Hirose Y, Chiba K, Karasugi T, Nakajima M, Kawaguchi Y, Mikami Y, Furuichi T, Mio F, Miyake A, Miyamoto T, Ozaki K, Takahashi A, Mizuta H, Kubo T, Kimura T, Tanaka T, Toyama Y, Ikegawa S.
    A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.
    Am J Hum Genet 82(5):1122-9, 2008.
12. Ikegawa S.
    Expression, regulation and function of asporin, a susceptibility gene in common bone and joint diseases.
    Curr Med Chem 15(7):724-8, 2008.
13. Meulenbelt I, Min JL, Bos S, Riyazi N, Houwing-Duistermaat JJ, van der Wijk HJ, Kroon HM, Nakajima M, Ikegawa S, Uitterlinden AG, van Meurs JB, van der Deure WM, Visser TJ, Seymour AB, Lakenberg N, van der Breggen R, Kremer D, van Duijn CM, Kloppenburg M, Loughlin J, Slagboom PE.
    Identification of DIO2 as new susceptibility locus for symptomatic osteoarthritis.
    Hum Mol Genet 17(12):1867-75, 2008.
14. Mototani H, Iida A, Nakajima M, Furuichi T, Miyamoto Y, Tsunoda T, Sudo A, Kotani A, Uchida A, Ozaki K, Tanaka Y, Nakamura Y, Tanaka T, Notoya K, Ikegawa S.
    A functional SNP in EDG2 increases susceptibility to knee osteoarthritis in Japanese.
    Hum Mol Genet 17(12):1790-7, 2008.
15. Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D.
    Association of the asporin D14 allele with lumbar-disc degeneration in Asians.
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16. Furuichi T, Maeda K, Chou CT, Liu YF, Liu TC, Miyamoto Y, Takahashi A, Mori K, Ikari K, Kamatani N, Kurosawa H, Inoue H, Tsai SF, Ikegawa S.
    Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese.
    J Hum Genet 53(5):419-24, 2008.
17. Chapman K, Takahashi A, Meulenbelt I, Watson C, Rodriguez-Lopez J, Egli R, Tsezou A, Malizos KN, Kloppenburg M, Shi D, Southam L, van der Breggen R, Donn R, Qin J, Doherty M, Slagboom PE, Wallis G, Kamatani N, Jiang Q, Gonzalez A, Loughlin J, Ikegawa S.
    A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility.
    Hum Mol Genet 17(10):1497-504, 2008.
18. Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A.
    Clinical and radiographic delineation of odontochondrodysplasia.
    Am J Med Genet A 146(6):770-8, 2008.
19. Jiang Q, Shi D, Nakajima M, Dai J, Wei J, Malizos KN, Qin J, Miyamoto Y, Kamatani N, Liu B, Tsezou A, Nakamura T, Ikegawa S.
    Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility.
    J Hum Genet 53(1):42-7, 2008.

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1. Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S.
   A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
   Am J Hum Genet 81(6):1271-7, 2007.

2. Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S.
   Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
   Nat Med 13(11):1363-7, 2007.
3. Nakashima E, Tran JR, Welting TJ, Pruijn GJ, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, Nagaraja R, Ikegawa S, Schlessinger D.
   Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
   Am J Med Genet A143(22):2675-81, 2007.
4. Toiviainen-Salo S, Mayranpaa MK, Durie PR, Richards N, Grynpas M, Ellis L, Ikegawa S, Cole WG, Rommens J, Marttinen E, Savilahti E, Makitie O.
   Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.
   Bone 41(6):965-72, 2007.
5. Nakajima M, Kizawa H, Saitoh M, Kou I, Miyazono K, Ikegawa S.
   Mechanisms for asporin function and regulation in articular cartilage.
   J Biol Chem 282(44):32185-92, 2007.
6. Kou I, Nakajima M, Ikegawa S.
   Expression and regulation of the osteoarthritis-associated protein asporin.
   J Biol Chem 282(44):32193-9, 2007.
7. Ikegawa S.
   New gene associations in osteoarthritis: what do they provide, and where are we going?
   Curr Opin Rheumatol 19(5):429-34, 2007.
8. Masuya H, Nishida K, Furuichi T, Toki H, Nishimura G, Kawabata H, Yokoyama H, Yoshida A, Tominaga S, Nagano J, Shimizu A, Wakana S, Gondo Y, Noda T, Shiroishi T, Ikegawa S.
   A novel dominant negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
   Hum Mol Genet 16(19):2366-75, 2007.
9. Shi D, Nakamura T, Dai J, Yi L, Qin J, Chen D, Xu Z, Wang Y, Ikegawa S, Jiang Q.
   Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population.
   J Hum Genet 52(8):664-7, 2007.
10. Yamada S, Tomoeda M, Ozawa Y, Yoneda S, Terashima Y, Ikezawa K, Ikegawa S, Saito M, Toyosawa S, Murakami S.
    PLAP-1/asporin: A novel negative regulator of periodontal ligament mineralization.
    J Biol Chem 282(32):23070-80, 2007.
11. Nakamura T, Shi D, Tzetis M, Rodriguez-Lopez J, Miyamoto Y, Tsezou A, Gonzalez A, Jiang Q, Kamatani N, Loughlin J, Ikegawa S.
    Meta-analysis of association between the ASPN D-repeat and osteoarthritis.
    Hum Mol Genet 16(14):1676-81, 2007.
12. Nii E, Urawa M, Nshimura T, Kitou H, Ikegawa S, Shimizu S, Taneda H, Uchida A, Niikawa N.
    Acrodysostosis with unusual iridal color changing with age.
    Am J Med Genet B Neuropsychiatr Genet 144B(6):824-5, 2007.
13. Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S.
    The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
    J Med Genet 44(4):e73, 2007.
14. Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S.
    A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.
    Hum Genet 121(5):625-9, 2007.
15. Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, Ikegawa S.
    A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.
    Nat Genet 39(4):529-33, 2007.
16. Yabuki S, Kikuchi S, Ikegawa S.
    Spinal extradural arachnoid cysts associated with distichiasis and lymphedema.
    Am J Med Genet A143(8):884-7, 2007.
17. Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S.
    The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
    J Hum Genet 52(5):473-5, 2007.
18. Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N.
    FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
    Am J Med Genet A143(7):694-8, 2007.
19. Ebana Y, Ozaki K, Inoue K, Sato H, Iida A, Lwin H, Saito S, Mizuno H, Takahashi A, Nakamura T, Miyamoto Y, Ikegawa S, Odashiro K, Nobuyoshi M, Kamatani N, Hori M, Isobe M, Nakamura Y, Tanaka T.
    A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.
    J Hum Genet 52(3):220-9, 2007.
20. Bondestam J, Mayranpaa MK, Ikegawa S, Marttinen E, Kroger H, Makitie O.
    Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease.
    Clin Rheumatol 26(10):1773-7, 2007.
21. Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S.
    COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
    Am J Med Genet A143(2):161-7, 2007.

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Book

1. Ikegawa S.
   Tiptoe walking (ttw) mouse.
   Yonenobu K, Nakamura K, Toyama Y (eds)
   OPLL (Ossification of the posterior longitudinal ligament) second edition. Springer, Tokyo, Japan. pp. 71-15, 2006.

Article

1. Ishii N, Ozaki K, Sato H, Mizuno H, Susumu Saito, Takahashi A, Miyamoto Y, Ikegawa S, Kamatani N, Hori M, Satoshi Saito, Nakamura Y, Tanaka T.
   Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction.
   J Hum Genet 51(12):1087-99, 2006.
2. Seki S, Kawaguchi Y, Mori M, Mio F, Chiba K, Mikami Y, Tsunoda T, Kubo T, Toyama Y, Kimura T, Ikegawa S.
   Association study of COL9A2 with lumbar disc disease in the Japanese population.
   J Hum Genet51(12):1063-7, 2006.
3. Jiang Q, Shi D, Yi L, Ikegawa S, Wang Y, Nakamura T, Qiao D, Liu C, Dai J.
   Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese.
   J Hum Genet 51(12):1068-72, 2006.
4. Taneichi H, Kanegane H, Futatani T, Otsubo K, Nomura K, Sato Y, Hama A, Kojima S, Kohdera U, Nakano T, Hori H, Kawashima H, Inoh Y, Kamizono J, Adachi N, Osugi Y, Mizuno H, Hotta N, Yoneyama H, Nakashima E, Ikegawa S, Miyawaki T.
   Clinical and genetic analyses of presumed shwachman-diamond syndrome in Japan.
   Int J Hematol 84(1):60-2, 2006.
5. Ozaki K, Sato H, Iida A, Mizuno H, Nakamura T, Miyamoto Y, Takahashi A, Tsunoda T, Ikegawa S, Kamatani N, Hori M, Nakamura Y, Tanaka T.
   A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population.
   Nat Genet 38(8):921-5, 2006.
6. Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N.
   Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
   Am J Med Genet A140(16):1719-25, 2006.
7. Ikegawa S, Kawamura S, Takahashi A, Nakamura T, Kamatani N.
   Replication of association of the D-repeat polymorphism in asporin with osteoarthristis.
   Arthritis Res Ther 8(4):403, 2006.
8. Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S.
   Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
   J Hum Genet 51(8):706-10, 2006.
9. Mabuchi A, Nakamura S, Takatori Y, Ikegawa S.
   Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q.
   Am J Hum Genet 79(1):163-8, 2006.
10. Itoh T, Shirahama S, Nakashima E, Maeda K, Haga N, Kitoh H, Kosaki R, Ohashi H, Nishimura G, Ikegawa S.
    Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.
    Am J Med Genet A140(12):1280-4, 2006.
11. Takata S, Nishimura G, Ikegawa S, Kuroda Y, Nishino M, Matsui Y, Yasui N.
    Metaphyseal dysplasia of Braun-Tinschert type: Report of a Japanese girl.
    Am J Med Genet A 140(11):1234-7, 2006.
12. Yamada T, Kawano H, Koshizuka Y, Fukuda T, Yoshimura K, Kamekura S, Saito T, Ikeda T, Kawasaki Y, Azuma Y, Ikegawa S, Hoshi K, Chung UI, Nakamura K, Kato S, Kawaguchi H.
    Carminerin contributes to chondrocyte calcification during endochondral ossification.
    Nat Med 12(6):665-70, 2006.
13. Ikegawa S.
    Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.
    J Hum Genet 51(7):581-6, 2006.
14. Maeda K, Miyamoto Y, Sawai H, Karniski LP, Nakashima E, Nishimura G, Ikegawa S.
    A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
    Am J Med Genet A 140(11):1143-7, 2006.
15. Horikoshi T, Maeda K, Kawaguchi Y, Chiba K, Mori K, Koshizuka Y, Hirabayashi S, Sugimori K, Matsumoto M, Kawaguchi H, Takahashi M, Inoue H, Kimura T, Matsusue Y, Inoue I, Baba H, Nakamura K, Ikegawa S.
    A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.
    Hum Genet 119(6):611-6, 2006.
16. Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S.
    Spine and rib abnormalities and stature in spondylocostal dysostosis.
    Spine 31(7):E192-7, 2006.
17. Takahashi M, Matsui Y, Goto T, Nishimura G, Ikegawa S, Ohashi H, Yasui N.
    Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).
    Clin Rheumatol 25(4):591-5, 2006.
18. Mori M, Nakajima M, Mikami Y, Seki S, Takigawa M, Kubo T, Ikegawa S.
    Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene.
    Biochem Biophys Res Commun 341(1):121-7, 2006.
19. Iida A, Kizawa H, Nakamura Y, Ikegawa S.
    High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis.
    J Hum Genet 51(2):151-4, 2006.

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Article

1. Maeda K, Horikoshi T, Nakashima E, Miyamoto Y, Mabuchi A, Ikegawa S.
   MATN and LAPTM are parts of larger transcription units produced by intergenic splicing: intergenic splicing may be a common phenomenon.
   DNA Res 12(5):365-72, 2005.
2. Kano H, Kurosawa K, Horii E, Ikegawa S, Yoshikawa H, Kurahashi H, Toda T.
   Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.
   Hum Genet 118(3-4):477-83, 2005.
3. Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.
   A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
   Hum Genet 118(2):175-8, 2005.
4. Ikeda T, Kawaguchi H, Kamekura S, Ogata N, Mori Y, Nakamura K, Ikegawa S, Chung UI.
   Distinct roles of Sox5, Sox6, and Sox9 in different stages of chondrogenic differentiation.
   J Bone Miner Metab 23(5):337-40, 2005.
5. Maeda K, Nakashima E, Horikoshi T, Mabuchi A, Ikegawa S.
   Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
   Am J Med Genet A 136A(3):285-6, 2005.
6. Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S.
   The phenotypic spectrum of COL2A1 mutations.
   Hum Mutat 26(1):36-43, 2005.
7. Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, Ikegawa S.
   A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.
   Nat Genet 37(6):607-12, 2005.
8. Mototani H, Mabuchi A, Saito S, Fujioka M, Iida A, Takatori Y, Kotani A, Kubo T, Nakamura K, Sekine A, Murakami Y, Tsunoda T, Notoya K, Nakamura Y, Ikegawa S.
   A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese.
   Hum Mol Genet 14(8):1009-17, 2005.
9. Kizawa H, Kou I, Iida A, Sudo A, Miyamoto Y, Fukuda A, Mabuchi A, Kotani A, Kawakami A, Yamamoto S, Uchida N, Nakamura K, Notoya K, Nakamura Y, Ikegawa S.
   An aspartic acid repeat polymorphism in asporin negatively affects chondrogenesis and increases susceptibility to osteoarthritis.
   Nat Genet 37(2):138-44, 2005.
   
10. Nakashima E, Mabuchi A, Kubota M, Ishikiriyama S, Ohashi H, Nishimura G, Ikegawa S.
    Novel and recurrent exon 13 mutations of COMP in pseudoachandroplasia.
    Am J Med Genet 132A(1):108-9, 2005.
    
11. Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, Nishimura G, Ohashi H, Ikegawa S.
    A novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.
    Am J Med Genet 132A(2):181-4, 2005.
    
12. Nakashima E, Nishimura G, Kimizuka M, Ohashi H, Ikegawa S.
    Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.
    Am J Med Genet 133A(1):106-7, 2005.
    

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Article

1. Ikeda T, Kamekura S, Mabuchi A, Kou I, Seki S, Takato T, Nakamura K, Kawaguchi H, Ikegawa S, Chung U.
   The combination of SOX5, SOX6 and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilage.
   Arthritis Rheum 50(11):3561-73, 2004.
   
2. Kou I, Ikegawa S.
   SOX9-dependent and SOX9-independent transcriptional regulation of human cartilage link protein.
   J Biol Chem 279(49):50942-8. 2004.
   
3. Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, Ikegawa S.
   Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
   Hum Mutat 24(5):439-40, 2004.
   
4. Mori K, Kizawa H, Ushiyama T, Chano T, Inoue H, Tsuchiya N, Okabe H, Matsusue Y, Ikegawa S.
   Association of CYP17 with HLA-B27-negative seronegative spondyloarthropathy in Japanese males.
   Am J Med Genet 130A(2):169, 2004.
   
5. Ikegawa S.
   Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle syndrome.
   Am J Med Genet 130A (1): 106, 2004.
   
6. Mabuchi A, Momohara S, Haga N, Ohashi H, Takatori Y, Nishimura G, Ikegawa S.
   Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
   Am J Med Genet 129A(1):35-8, 2004.
   
7. Nakashima E, Mabuchi A, Makita, Ohashi H, Nishimura G, Ikegawa S.
   Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
   Hum Genet 114(4):345-8, 2004.
   
8. Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.
   Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
   J Med Genet 41(1): 75-9, 2004.
   
9. Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K.
   TGFB1 mutations in four new families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations.
   Am J Med Genet 127A(1):104-7, 2004.
   

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Article

1. Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S.
   Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
   Hum Genet 112(1):78-83, 2003.
   
2. Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.
   Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
   Hum Genet 112(1):84-90, 2003.
   
3. Mori K, Chano T, Ikeda T, Ikegawa S, Okabe H, Saeki Y.
   Decrease of serum nucleotide pyrophosphatase (npps) activity in ankylosing spondylitis.
   Rheumatology (Oxford) 42(1):62-5, 2003.
   
4. Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S.
   Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients.
   Am J Med Genet 117A(2):147-53, 2003.
   
5. Brunetti-Pierri N, De Brasi D, Ikegawa S, Camera G, Andria G, Sebastio G.
   A new patient with Lowry-Wood syndrome with mild phenotype.
   Am J Med Genet 118A(1):68-70, 2003.
   
6. Matsuyama J, Mabuchi A, Zhang J, Iida A, Ikeda T, Kimizuka M, Ikegawa S.
   A pair of sibs with tibial hemimelia born to phenotypically normal parents.
   J Hum Genet 48(4):173-6, 2003.
   
7. Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T.
   Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects.
   Am J Med Genet 120A(4):498-502, 2003.
   
8. Koshizuka Y, Yamada T, Hoshi K, Ogasawara T, Chung UI, Kawano H, Nakamura Y, Nakamura K, Ikegawa S, Kawaguchi H.
   Cystatin 10, a novel chondrocyte-specific protein, may promote the last steps of the chondrocyte differentiation pathway.
   J Biol Chem 278(48):48259-66, 2003.
   
9. Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I.
   Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
   Am J Hum Genet 73(4):812-22, 2003.
   
10. Ikegawa S, Ikeda T, Mabuchi A.
    Genetic analysis of osteoarthritis: toward identification of its susceptibility genes.
    J Orthop Sci 8(5):737-9, 2003.
    
11. Nakashima E, Mabuchi A, Kashimada K, Onishi, T, Zhang J, Ohashi H, Nishimura G, Ikegawa S.
    RMRP mutations in Japanese patients with Cartilage-Hair hypoplasia.
    Am J Med Genet A123(3):253-6, 2003.
    

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Article

1. Kawaji H, Nishimura G, Watanabe S, Mabuchi A, Ikeda T, Ohashi H, Sasaki A, Sano T, Ikegawa S.
   Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects.
   Skeletal Radiol 31 (12):730-7, 2002.
   
2. Ikeda T, Zhang J, Chano T, Mabuchi A, Fukuda A, Kawaguchi H, Nakamura K, Ikegawa S.
   Identification and characterization of the human long form of Sox5 (L-SOX5) gene.
   Gene 298(1):59-68, 2002.
   
3. Chano T, Kontani K, Teramoto K, Okabe H, Ikegawa S.
   Truncating mutations of RB1CC1 in human breast cancers.
   Nat Genet 31(3):285-8, 2002.
   
4. Ikeda T, Mabuchi A, Fukuda A, Kawakami A, Yamada R, Yamamoto S, Miyoshi K, Haga N, Hiraoka H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S.
   Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population.
   J Bone Miner Res 17(7):1290-96, 2002.
   
5. Ikegawa S, Mabuchi A, Ogawa M, Ikeda T.
   Allele specific PCR amplification due to sequence identity between a PCR primer and an amplicon: Is direct sequencing so reliable?
   Hum Genet 110(6):606-8, 2002.
   
6. Chano T, Ikegawa S, Saito-Ohara F, Inazawa J, Mabuchi A, Saeki Y, Okabe H.
   Isolation, characterization and mapping of the mouse and human RB1CC1 genes.
   Gene 291(1-2):29-34, 2002.
   
7. Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N.
   Camurati-Engelmann disease type II. Progressive diaphyseal dysplasia with striations of the bones.
   Am J Med Genet 107(1):5-11, 2002.
   
8. Chano T, Ikegawa S, Kontani K, Okabe H, Baldini N, Saeki Y.
   Identification of RB1CC1, a novel human gene that can induce RB1 in human neoplasms.
   Oncogene 21(8):1295-8, 2002.
   
9. Koshizuka Y, Kawaguchi H, Ogata N, Ikeda T, Mabuchi A, Seichi A, Nakamura Y, Nakamura N, Ikegawa S.
   Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine.
   J Bone Miner Res 17:138-44, 2002.
   

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Article

1. Koshizuka Y, Ikegawa S, Sano M, Nakamura K, Nakamura Y.
   Isolation of novel mouse genes associated with ectopic ossification by differential display method using ttw, a mouse model for ectopic ossification.
   Cytogenet Cell Genet 94(34):163-8, 2001.
2. Mabuchi A, Haga N, Ikeda T, Manabe N, Takatori Y, Nakamura K, Ikegawa S.
   A novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
   Am J Med Genet 104(2):135-9, 2001.
3. Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, Machida H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S.
   Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.
   J Hum Genet 46(9):538-43, 2001.
4. Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, Ikegawa S.
   Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.
   J Hum Genet 46(8):456-62, 2001.
5. Koshizuka Y, Ikegawa S, Sano M, Nakamura K, Nakamura Y.
   Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel wd repeat gene family.
   Genomics 72(3):252-9, 2001.
6. Nishimura G, Manabe N, Kosaki K, Haga N, Ohashi H, Nakamura K, Ikegawa S.
   Spondylar dysplasia in type X collagenopathy.
   Pediatr Radiol 31(2):76-80, 2001.
7. Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, Wakui K, Yoshikawa H, Takaoka K, Fukushima Y.
   Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.
   Am J Med Genet 99(1):59-62, 2001.

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