{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T11:29:32Z","timestamp":1773660572276,"version":"3.50.1"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T00:00:00Z","timestamp":1476316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T00:00:00Z","timestamp":1476316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"DOI":"10.1038\/hgv.2016.35","type":"journal-article","created":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T04:31:39Z","timestamp":1476333099000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation"],"prefix":"10.1038","volume":"3","author":[{"given":"Vida","family":"\u010culi\u0107","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun\u010dana","family":"Jankovi\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davor","family":"Petrovi\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5720-0893","authenticated-orcid":false,"given":"Marko","family":"\u0160imunovi\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomislav","family":"\u0110api\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaaki","family":"Shiina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiro","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,10,13]]},"reference":[{"key":"BFhgv201635_CR1","doi-asserted-by":"publisher","first-page":"40","DOI":"10.2106\/JBJS.I.00281","volume":"91","author":"M Bamshad","year":"2009","unstructured":"Bamshad M, Van Heest AE, Pleasure D . Arthrogryposis: a review and update. J Bone Joint Surg Am 2009; 91: 40\u201346.","journal-title":"J Bone Joint Surg Am"},{"key":"BFhgv201635_CR2","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/ajmg.a.37391","volume":"170","author":"B Wang","year":"2016","unstructured":"Wang B, Zheng Z, Wang Z, Zhang X, Yang H, Cai H et al. A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. Am J Med Genet A 2016; 170: 135\u2013141.","journal-title":"Am J Med Genet A"},{"key":"BFhgv201635_CR3","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1086\/368294","volume":"72","author":"SS Sung","year":"2003","unstructured":"Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003; 72: 681\u2013690.","journal-title":"Am J Hum Genet"},{"key":"BFhgv201635_CR4","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1086\/376418","volume":"73","author":"SS Sung","year":"2003","unstructured":"Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M . Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet 2003; 73: 212\u2013214.","journal-title":"Am J Hum Genet"},{"key":"BFhgv201635_CR5","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1002\/ajmg.a.35809","volume":"161A","author":"AE Beck","year":"2013","unstructured":"Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC et al. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A 2013; 161A: 550\u2013555.","journal-title":"Am J Med Genet A"},{"key":"BFhgv201635_CR6","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1038\/jhg.2016.27","volume":"61","author":"M Nakashima","year":"2016","unstructured":"Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y et al. WDR45 mutations in three male patients with West syndrome. J Hum Genet 2016; 61: 653\u2013661.","journal-title":"J Hum Genet"},{"key":"BFhgv201635_CR7","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1007\/s00439-006-0183-4","volume":"120","author":"M Jiang","year":"2006","unstructured":"Jiang M, Zhao X, Han W, Bian C, Li X, Wang G et al. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet 2006; 120: 238\u2013242.","journal-title":"Hum Genet"},{"key":"BFhgv201635_CR8","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1002\/bdra.23212","volume":"97","author":"D Carli","year":"2013","unstructured":"Carli D, Fairplay T, Ferrari P, Sartini S, Lando M, Garagnani L et al. Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic. Birth Defects Res A Clin Mol Teratol 2013; 97: 798\u2013805.","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"BFhgv201635_CR9","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ejmg.2005.06.003","volume":"49","author":"AE Shrimpton","year":"2006","unstructured":"Shrimpton AE, Hoo JJ . A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet 2006; 49: 201\u2013206.","journal-title":"Eur J Med Genet"},{"key":"BFhgv201635_CR10","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1111\/j.1651-2227.2012.02708.x","volume":"101","author":"E Kimber","year":"2012","unstructured":"Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M . Distal arthrogryposis: clinical and genetic findings. Acta Paediatr 2012; 101: 877\u2013887.","journal-title":"Acta Paediatr"},{"key":"BFhgv201635_CR11","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/0022-2836(73)90527-5","volume":"75","author":"DA Parry","year":"1973","unstructured":"Parry DA, Squire JM . Structural role of tropomyosin in muscle regulation: analysis of the X-ray diffraction patterns from relaxed and contracting muscles. J Mol Biol 1973; 75: 33\u201355.","journal-title":"J Mol Biol"},{"key":"BFhgv201635_CR12","doi-asserted-by":"publisher","first-page":"26887","DOI":"10.1074\/jbc.272.43.26887","volume":"272","author":"HM Rarick","year":"1997","unstructured":"Rarick HM, Tu XH, Solaro RJ, Martin AF . The C terminus of cardiac troponin I is essential for full inhibitory activity and Ca2+ sensitivity of rat myofibrils. J Biol Chem 1997; 272: 26887\u201326892.","journal-title":"J Biol Chem"},{"key":"BFhgv201635_CR13","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/j.jmb.2005.06.067","volume":"352","author":"K Murakami","year":"2005","unstructured":"Murakami K, Yumoto F, Ohki SY, Yasunaga T, Tanokura M, Wakabayashi T . Structural basis for Ca2+-regulated muscle relaxation at interaction sites of troponin with actin and tropomyosin. J Mol Biol 2005; 352: 178\u2013201.","journal-title":"J Mol Biol"},{"key":"BFhgv201635_CR14","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/nature01780","volume":"424","author":"S Takeda","year":"2003","unstructured":"Takeda S, Yamashita A, Maeda K, Maeda Y . Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form. Nature 2003; 424: 35\u201341.","journal-title":"Nature"},{"key":"BFhgv201635_CR15","doi-asserted-by":"publisher","DOI":"10.6084\/m9.figshare.hgv.882","author":"Naomichi Matsumoto","year":"2016","unstructured":"Matsumoto, Naomichi HGV Database (2016) http:\/\/dx.doi.org\/10.6084\/m9.figshare.hgv.882"}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/hgv201635.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/hgv201635","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/hgv201635.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T09:26:01Z","timestamp":1672824361000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/hgv201635"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,13]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2016,12,8]]}},"alternative-id":["BFhgv201635"],"URL":"https:\/\/doi.org\/10.1038\/hgv.2016.35","relation":{"references":[{"id-type":"doi","id":"10.6084\/m9.figshare.hgv.882","asserted-by":"subject"}]},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,13]]},"assertion":[{"value":"26 June 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 September 2016","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 September 2016","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 October 2016","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"16035"}}