{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:18:06Z","timestamp":1791242286791,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T00:00:00Z","timestamp":1395187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type I collagen. Mutations in the gene encoding bone morphogenetic protein 1 (<jats:italic>BMP1<\/jats:italic>, also known as procollagen C\u2010endopeptidase) have been associated with osteogenesis imperfecta in two sib pairs. In this report, we describe an additional patient with osteogenesis imperfecta with normal bone density and a recurrent, homozygous c.34G&gt;C mutation in <jats:italic>BMP1<\/jats:italic>. Western blot analysis of dermal fibroblasts from this patient showed decreased protein levels of the two alternatively spliced products of <jats:italic>BMP1<\/jats:italic> and abnormal cleavage of the C\u2010terminal propeptide of type I procollagen. In addition, fluorescence and electron microscopy showed impaired assembly of type I collagen fibrils in the extracellular matrix of cultured fibroblasts derived from two patients: the patient described here and a previously reported patient with a homozygous <jats:italic>BMP1<\/jats:italic> c.747C&gt;G mutation. We conclude that BMP1 is essential for human type I collagen fibrilogenesis. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36427","type":"journal-article","created":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T19:28:54Z","timestamp":1395257334000},"page":"1143-1150","source":"Crossref","is-referenced-by-count":32,"title":["Report of a newly indentified patient with mutations in <i>BMP1<\/i> and underlying pathogenetic aspects"],"prefix":"10.1002","volume":"164","author":[{"given":"Mar\u00eda","family":"Valencia","sequence":"first","affiliation":[{"name":"Instituto de Investigaciones Biom\u00e9dicas Consejo Superior de Investigaciones Cient\u00edficas\u2010Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose A.","family":"Caparr\u00f3s\u2010Martin","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Biom\u00e9dicas Consejo Superior de Investigaciones Cient\u00edficas\u2010Universidad Aut\u00f3noma de Madrid Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Salom\u00e9","family":"Sirerol\u2010Piquer","sequence":"additional","affiliation":[{"name":"Instituto Cavanilles Universidad de Valencia CIBERNED Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Manuel","family":"Garc\u00eda\u2010Verdugo","sequence":"additional","affiliation":[{"name":"Instituto Cavanilles Universidad de Valencia CIBERNED Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor","family":"Mart\u00ednez\u2010Glez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"},{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz\u2010IdiPaz Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"},{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz\u2010IdiPaz Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Temtamy","sequence":"additional","affiliation":[{"name":"Human Genetics and Genome Research Division National Research Centre El\u2010Dokki Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Aglan","sequence":"additional","affiliation":[{"name":"Human Genetics and Genome Research Division National Research Centre El\u2010Dokki Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics 4062 Centre for Inherited Metabolic Diseases Copenhagen University Hospital Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter G. 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