Recessively Inherited Forms of Osteogenesis Imperfecta
作者： Peter H. Byers , Shawna M. Pyott
DOI: 10.1146/ANNUREV-GENET-110711-155608
关键词:
摘要: More than 90% of people who have osteogenesis imperfecta (OI) heterozygous mutations in one the two type I collagen genes, COL1A1 and COL1A2. The effects these changes range from death perinatal period to barely increased fracture frequency reflect different types mutations. Introduction bisphosphonates during past 20 years has targeted bone fragility by decreased resorption. recent recognition biallelic genes that affect either assembly processing or regulation osteoblast development raised hopes for therapies would be specific single-gene disorders identify cellular targets individuals with dominant forms OI. These are yet met, but study recessively inherited OI illuminated details pathways.
sci-hub.se 参考文章(75)
L M Milstone, I M Braverman, E M Petty, W Wertelecki, P H Byers, M R Seashore, L T Smith, T G Jenkins, Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. American Journal of Human Genetics. ,vol. 51, pp. 235- 244 ,(1992)
B J Starman, P H Byers, R C Schwartz, P Tsipouras, J F Bonadio, Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. American Journal of Human Genetics. ,vol. 42, pp. 237- 248 ,(1988)
B J Starman, P H Byers, D H Cohn, B Blumberg, Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). American Journal of Human Genetics. ,vol. 46, pp. 591- 601 ,(1990)
Hans Peter BACHINGER, Peter BRUCKNER, Rupert TIMPL, Darwin J. PROCKOP, Jurgen ENGEL, Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Role of disulfide bridges and peptide bond isomerization. FEBS Journal. ,vol. 106, pp. 619- 632 ,(1980) , 10.1111/J.1432-1033.1980.TB04610.X
Francis Galton, William Bulloch, Karl. Pearson, Julia. Bell, Edward Nettleship, Amy. Barrington, Paul. Fildes, H. Rischbieth, J.B. Lawford, W. Jobson. Horne, A. R. Urquhart, Thomas. Lewis, W. C. Rivers, N. Bishop. Harman, Treasury of human inheritance Cambridge University Press,. ,vol. 1, ,(1909)
B Steinmann, P Bruckner, A Superti-Furga, Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. Journal of Biological Chemistry. ,vol. 266, pp. 1299- 1303 ,(1991) , 10.1016/S0021-9258(17)35315-2
T Pihlajaniemi, L A Dickson, F M Pope, V R Korhonen, A Nicholls, D J Prockop, J C Myers, Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. Journal of Biological Chemistry. ,vol. 259, pp. 12941- 12944 ,(1984) , 10.1016/S0021-9258(18)90635-6
Pablo Lapunzina, Mona Aglan, Samia Temtamy, José A Caparrós-Martín, Maria Valencia, Rocío Letón, Victor Martínez-Glez, Rasha Elhossini, Khalda Amr, Nuria Vilaboa, Victor L Ruiz-Perez, Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. American Journal of Human Genetics. ,vol. 87, pp. 110- 114 ,(2010) , 10.1016/J.AJHG.2010.05.016
Roy Morello, Terry K. Bertin, Yuqing Chen, John Hicks, Laura Tonachini, Massimiliano Monticone, Patrizio Castagnola, Frank Rauch, Francis H. Glorieux, Janice Vranka, Hans Peter Bächinger, James M. Pace, Ulrike Schwarze, Peter H. Byers, MaryAnn Weis, Russell J. Fernandes, David R. Eyre, Zhenqiang Yao, Brendan F. Boyce, Brendan Lee, CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. ,vol. 127, pp. 291- 304 ,(2006) , 10.1016/J.CELL.2006.08.039
Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis, Melissa A Scott, Sergey Leikin, Elena Makareeva, Natalia V Kuznetsova, Kenneth N Rosenbaum, Cynthia J Tifft, Dorothy I Bulas, Chahira Kozma, Peter A Smith, David R Eyre, Joan C Marini, Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta Nature Genetics. ,vol. 39, pp. 359- 365 ,(2007) , 10.1038/NG1968