{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T22:09:13Z","timestamp":1793138953056,"version":"4.5.0"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2011,8,8]],"date-time":"2011-08-08T00:00:00Z","timestamp":1312761600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and\/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing\/trafficking of type I procollagen. Recessive OI type VI is unique among OI types in that it is characterized by an increased amount of unmineralized osteoid, thereby suggesting a distinct disease mechanism. In a large consanguineous family with OI type VI, we performed homozygosity mapping and next-generation sequencing of the candidate gene region to isolate and identify the causative gene. We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF1) in two affected members of this family and in an additional unrelated patient with OI type VI. SERPINF1 encodes pigment epithelium\u2013derived factor. Hence, loss of pigment epithelium\u2013derived factor function constitutes a novel mechanism for OI and shows its involvement in bone mineralization. \u00a9 2011 American Society for Bone and Mineral Research<\/jats:p>","DOI":"10.1002\/jbmr.487","type":"journal-article","created":{"date-parts":[[2011,8,8]],"date-time":"2011-08-08T18:40:54Z","timestamp":1312828854000},"page":"2798-2803","source":"Crossref","is-referenced-by-count":179,"title":["Mutations in <i>SERPINF1<\/i> cause osteogenesis imperfecta type VI"],"prefix":"10.1093","volume":"26","author":[{"given":"Erica P","family":"Homan","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children and McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Grafe","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caressa","family":"Lietman","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A","family":"Doll","sequence":"additional","affiliation":[{"name":"Department of Surgery, NorthShore University Health System Research Institute, Evanston, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Dawson","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"Bertin","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dobrawa","family":"Napierala","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy","family":"Morello","sequence":"additional","affiliation":[{"name":"Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"White","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Miki","sequence":"additional","affiliation":[{"name":"International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, CA, USA"},{"name":"Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, CA, USA"},{"name":"Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel H","family":"Cohn","sequence":"additional","affiliation":[{"name":"International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, CA, USA"},{"name":"Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, CA, USA"},{"name":"Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Crawford","sequence":"additional","affiliation":[{"name":"Department of Surgery, NorthShore University Health System Research Institute, Evanston, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rose","family":"Travers","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children and McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis H","family":"Glorieux","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children and McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Houston, TX, USA"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2011,8,8]]},"reference":[{"issue":"9418","key":"2024020804160844700_bib1","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet."},{"issue":"1","key":"2024020804160844700_bib2","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/ajmg.c.30072","article-title":"Osteogenesis imperfecta, current and future medical treatment","volume":"139C","author":"Rauch","year":"2005","journal-title":"Am J Med Genet C Semin Med Genet."},{"issue":"Pt 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