{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T05:48:40Z","timestamp":1769752120828,"version":"3.49.0"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"8","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NCRR P20-RR016453"],"award-info":[{"award-number":["NCRR P20-RR016453"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RO1-AR064338"],"award-info":[{"award-number":["RO1-AR064338"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ingeborg Foundation (M.L.M), the German Research Foundation","award":["SFB665, DFG, A.M.K."],"award-info":[{"award-number":["SFB665, DFG, A.M.K."]}]},{"name":"Sonnenfeld Stiftung (A.M.K), the Deutsche Gesellschaft f\u00fcr Muskelkranke DGM (A.M.K.), the Max-Planck Society (H.H.), and the EU FP 7 project GENCODYS","award":["#241995"],"award-info":[{"award-number":["#241995"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,4,15]]},"DOI":"10.1093\/hmg\/ddx048","type":"journal-article","created":{"date-parts":[[2017,2,8]],"date-time":"2017-02-08T10:01:25Z","timestamp":1486548085000},"page":"1458-1464","source":"Crossref","is-referenced-by-count":13,"title":["PTRH2 gene mutation causes progressive congenital skeletal muscle pathology"],"prefix":"10.1093","volume":"26","author":[{"given":"Jinger","family":"Doe","sequence":"first","affiliation":[{"name":"Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela M.","family":"Kaindl","sequence":"additional","affiliation":[{"name":"Institute of Cell Biology and Neurobiology"},{"name":"Department of Pediatric Neurology, Charit\u00e9 \u2013Universit\u00e4tsmedizin, 13353 Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayumi","family":"Jijiwa","sequence":"additional","affiliation":[{"name":"The University of Hawaii Cancer Center, Honolulu, HI 96813, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"de la Vega","sequence":"additional","affiliation":[{"name":"The University of Hawaii Cancer Center, Honolulu, HI 96813, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Hu","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevieve S.","family":"Griffiths","sequence":"additional","affiliation":[{"name":"The University of Hawaii Cancer Center, Honolulu, HI 96813, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana M.","family":"Fontelonga","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Barraza","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivian","family":"Cruz","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pam","family":"Van Ry","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe W.","family":"Ramos","sequence":"additional","affiliation":[{"name":"The University of Hawaii Cancer Center, Honolulu, HI 96813, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dean J.","family":"Burkin","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle L.","family":"Matter","sequence":"additional","affiliation":[{"name":"The University of Hawaii Cancer Center, Honolulu, HI 96813, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,2,8]]},"reference":[{"key":"key\n\t\t\t\t20180803083236_ddx048-B1","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/path.3020","article-title":"Cell-matrix interactions in muscle disease","volume":"226","author":"Carmignac","year":"2012","journal-title":"J. Pathol"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B2","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/ng0598-94","article-title":"Mutations in the integrin alpha7 gene cause congenital myopathy","volume":"19","author":"Hayashi","year":"1998","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B3","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/ng1197-318","article-title":"Absence of integrin alpha 7 causes a novel form of muscular dystrophy","volume":"17","author":"Mayer","year":"1997","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B4","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.2353\/ajpath.2007.070555","article-title":"Deletion of integrin-linked kinase from skeletal muscles of mice resembles muscular dystrophy due to alpha 7 beta 1-integrin deficiency","volume":"171","author":"Gheyara","year":"2007","journal-title":"Am. J. Pathol"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B5","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/S0092-8674(04)00204-1","article-title":"A mitochondrial protein, Bit1, mediates apoptosis regulated by integrins and Groucho\/TLE corepressors 1","volume":"116","author":"Jan","year":"2004","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B6","doi-asserted-by":"crossref","first-page":"14713","DOI":"10.1074\/jbc.M111.228387","article-title":"Bit-1 Mediates Integrin-dependent Cell Survival through Activation of the NF{kappa}B Pathway","volume":"286","author":"Griffiths","year":"2011","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B7","doi-asserted-by":"crossref","first-page":"L9.","DOI":"10.1126\/stke.2001.103.pl9","article-title":"Identification of cell signaling molecules by expression cloning","volume":"2001","author":"Matter","year":"2001","journal-title":"Sci.STKE"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B8","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1002\/acn3.149","article-title":"Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness","volume":"1","author":"Hu","year":"2014","journal-title":"Ann. Clin. Transl.Neurol"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B9","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1073\/pnas.0711357105","article-title":"Anoikis effector Bit1 negatively regulates Erk activity 8","volume":"105","author":"Kairouz-Wahbe","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U.S.A"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B10","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1242\/jcs.158964","article-title":"Bit-1 is an essential regulator of myogenic differentiation","volume":"128","author":"Griffiths","year":"2015","journal-title":"J. Cell Sci"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B11","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/S0092-8674(00)80533-4","article-title":"Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy","volume":"90","author":"Grady","year":"1997","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B12","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/0022-510X(93)90130-Q","article-title":"Age-related changes in replication of myogenic cells in mdx mice: quantitative autoradiographic studies","volume":"119","author":"McGeachie","year":"1993","journal-title":"J. Neurol. Sci"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B13","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0092-8674(88)90463-1","article-title":"Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy","volume":"52","author":"Webster","year":"1988","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B14","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s004410051279","article-title":"The alpha7beta1 integrin in muscle development and disease","volume":"296","author":"Burkin","year":"1999","journal-title":"Cell Tissue Res"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B15","doi-asserted-by":"crossref","first-page":"C282","DOI":"10.1152\/ajpcell.00362.2003","article-title":"Force transmission, compliance, and viscoelasticity are altered in the alpha7-integrin-null mouse diaphragm","volume":"288","author":"Lopez","year":"2005","journal-title":"Am. J. Physiol. Cell Physiol"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B16","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.bbadis.2011.01.002","article-title":"Activation of AKT signaling promotes cell growth and survival in alpha7beta1 integrin-mediated alleviation of muscular dystrophy","volume":"1812","author":"Boppart","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B17","doi-asserted-by":"crossref","first-page":"C627","DOI":"10.1152\/ajpcell.00329.2007","article-title":"Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression","volume":"294","author":"Liu","year":"2008","journal-title":"Am. J. Physiol. Cell Physiol"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B18","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1242\/jcs.02952","article-title":"Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin","volume":"119","author":"Rooney","year":"2006","journal-title":"J. Cell Sci"},{"key":"key\n\t\t\t\t20180803083236_ddx048-B19","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1242\/jcs.110.22.2873","article-title":"Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies","volume":"110 (Pt 22)","author":"Hodges","year":"1997","journal-title":"J. Cell Sci"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/8\/1458\/25421239\/ddx048.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T20:06:43Z","timestamp":1658606803000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/26\/8\/1458\/2976029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,8]]},"references-count":19,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2017,2,8]]},"published-print":{"date-parts":[[2017,4,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx048","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,4,15]]},"published":{"date-parts":[[2017,2,8]]}}}