Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
暂无分享,去创建一个
S. Bohlander | K. Kagan | Filippo Beleggia | B. Wollnik | A. Riess | D. Amor | Jinoh Kim | L. Garbes | M. J. Kim | R. Savarirayan | S. Boyadjiev | P. Kakadia | J. Becker | O. Semler | C. Netzer | T. Lindig | H. Kweon | A. Bevot | H. Hoyer-Kuhn | Y. Huh | Kyungho Kim | H. Hoyer‐Kuhn
[1] J. Marini,et al. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation , 2014, Current opinion in pediatrics.
[2] D. Sillence,et al. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment , 2014, American journal of medical genetics. Part A.
[3] R. Schekman,et al. Copii — a Flexible Vesicle Formation System This Review Comes from a Themed Issue on Cell Organelles Biophysics of Copii-mediated Vesicle Formation , 2022 .
[4] D. Ginsburg,et al. Disruption of the Sec24d Gene Results in Early Embryonic Lethality in the Mouse , 2013, PloS one.
[5] R. Schumacher,et al. Fetal Radiology: A Diagnostic Atlas , 2013 .
[6] P. Byers,et al. Recessively inherited forms of osteogenesis imperfecta. , 2012, Annual review of genetics.
[7] R. Schekman,et al. SEC23-SEC31 the Interface Plays Critical Role for Export of Procollagen from the Endoplasmic Reticulum , 2012, The Journal of Biological Chemistry.
[8] R. Schekman,et al. COPII and the regulation of protein sorting in mammals , 2012, Nature Cell Biology.
[9] C. Haldeman-Englert,et al. Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion , 2011, Clinical genetics.
[10] Joan C. Marini,et al. New perspectives on osteogenesis imperfecta , 2011, Nature Reviews Endocrinology.
[11] Sheila Unger,et al. Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision , 2011, American journal of medical genetics. Part A.
[12] A. Kudo,et al. sec24d encoding a component of COPII is essential for vertebra formation, revealed by the analysis of the medaka mutant, vbi. , 2010, Developmental biology.
[13] E. Knapik,et al. Sec24D-Dependent Transport of Extracellular Matrix Proteins Is Required for Zebrafish Skeletal Morphogenesis , 2010, PloS one.
[14] U. Pannicke,et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II , 2009, Nature Genetics.
[15] J. Mancias,et al. Structural basis of cargo membrane protein discrimination by the human COPII coat machinery , 2008, The EMBO journal.
[16] J. Christopher Fromme,et al. The genetic basis of a craniofacial disease provides insight into COPII coat assembly. , 2007, Developmental cell.
[17] J. Christopher Fromme,et al. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking , 2006, Nature Genetics.
[18] F. Glorieux,et al. Cyclical Intravenous Pamidronate Treatment Affects Metaphyseal Modeling in Growing Patients With Osteogenesis Imperfecta , 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[19] C. Cowell,et al. Quantification of metaphyseal modeling in children treated with bisphosphonates. , 2005, Bone.
[20] K. Kadler,et al. Procollagen trafficking, processing and fibrillogenesis , 2005, Journal of Cell Science.
[21] Hetal N. Patel,et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders , 2003, Nature Genetics.
[22] Alexander F. Wilson,et al. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21 , 2003, Human Genetics.
[23] A. Bankier,et al. New case of Cole-Carpenter syndrome. , 2000, American journal of medical genetics.
[24] K. Macdermot,et al. Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus , 1995, Clinical genetics.
[25] R. Marwaha,et al. Cole-Carpenter’s syndrome , 1993, Indian journal of pediatrics.
[26] P. Beighton,et al. Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome) , 1989, Clinical genetics.
[27] P. Beighton,et al. The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome , 1985, Clinical genetics.
[28] J. Opitz,et al. Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation , 1976, Clinical genetics.
[29] R. Shapiro. Anomalous parietal sutures and the bipartite parietal bone. , 1972, The American journal of roentgenology, radium therapy, and nuclear medicine.
[30] M. D. De Matteis,et al. Exiting the ER: what we know and what we don't. , 2014, Trends in cell biology.
[31] D. Cole,et al. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. , 1987, The Journal of pediatrics.