Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Human Mutation - Tập 28 Số 3 - Trang 209-221 - 2007
Joan C. Marini1, Antonella Forlino1,2, Wayne A. Cabral1, Aileen M. Barnes1, James D. San Antonio3, Sarah A. Milgrom1,4, James Hyland5,6, Jarmo Körkkö5, Darwin J. Prockop5, Anne De Paepe7, Paul Coucke7, Sofie Symoens7, Francis H. Glorieux8, Peter J. Roughley8, Allan M. Lund9, Kaija Kuurila-Svahn10,11, Heini Hartikka12, Daniel H. Cohn13, Deborah Krakow13, Monica Mottes14, Ulrike Schwarze15, Diana Chen15, Kathleen Yang15, Christine Kuslich15, James Troendle16, Raymond Dalgleish17, Peter H. Byers15
1Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland
2Department of Biochemistry “A. Castellani”, University of Pavia, Pavia, Italy
3Department of Medicine, Hematology/Cardeza Foundation, Thomas Jefferson University, Philadelphia, Pennsylvania
4Sarah Milgrom's current address: Yale University School of Medicine, New Haven, CT 06511.
5Center for Gene Therapy, Tulane University, New Orleans, Louisiana
6James C. Hyland's current address: Medical Director, Connective Tissue Gene Tests, Allentown, PA 18103.
7Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium
8Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
9Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
10Department of Otorhinolaryngology–Head and Neck Surgery, Turku University Hospital, Turku, Finland
11Department of Otorhinolaryngology–Head and Neck Surgery, Vaasa Central Hospital, Vaasa, Finland
12Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
13Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars-Sinai Research Institute, Los Angeles, California
14Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy
15Department of Pathology, University of Washington, Seattle, Washington
16Biometry and Mathematical Statistics Branch, National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, Maryland
17Department of Genetics, University of Leicester, Leicester, United Kingdom

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