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Page 1
Molecular heterogeneity in osteogenesis imperfecta type I.
Willing MC, Pruchno CJ, Byers PH. Willing MC, et al. Am J Med Genet. 1993 Jan 15;45(2):223-7. doi: 10.1002/ajmg.1320450214. Am J Med Genet. 1993. PMID: 8456806
The deletion creates a shift in the translational reading-frame and predicts the synthesis of an elongated pro alpha 1(I) chain. In a second family, a father and a son have a single exon deletion that results from a splicing mutation. ...
The deletion creates a shift in the translational reading-frame and predicts the synthesis of an elongated pro alpha 1(I) chain. In a …
Bone properties by nanoindentation in mild and severe osteogenesis imperfecta.
Albert C, Jameson J, Toth JM, Smith P, Harris G. Albert C, et al. Clin Biomech (Bristol, Avon). 2013 Jan;28(1):110-6. doi: 10.1016/j.clinbiomech.2012.10.003. Epub 2012 Nov 7. Clin Biomech (Bristol, Avon). 2013. PMID: 23141422
Knowledge of the material properties of bones in osteogenesis imperfecta will contribute to the ability to develop models to assist in predicting fracture risk....
Knowledge of the material properties of bones in osteogenesis imperfecta will contribute to the ability to develop models to assist in pr …
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP. Witters I, et al. Genet Couns. 2008;19(3):267-75. Genet Couns. 2008. PMID: 18990981
In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 cases were diagnosed only after 24 weeks of pregnancy (19%) and 3 were only referred after 30 weeks (11.5%). ...A correct antenatal diagnos …
In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 …
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R, McMahon R, Nunn J, Bamford R, Afifi A, Bishop N, Dalton A. Pollitt R, et al. Hum Mutat. 2006 Jul;27(7):716. doi: 10.1002/humu.9430. Hum Mutat. 2006. PMID: 16786509
The largest group consists of point mutations affecting glycine residues in the triple helical domain of the two alpha chains, predicted to disrupt protein folding and structure. This is in accordance with previously published data. A doublet GC deletion, an unusual 398 ba …
The largest group consists of point mutations affecting glycine residues in the triple helical domain of the two alpha chains, predicted …
Studies of type I collagen in osteogenesis imperfecta.
Edwards MJ, Graham JM Jr. Edwards MJ, et al. J Pediatr. 1990 Jul;117(1 Pt 1):67-72. doi: 10.1016/s0022-3476(05)82445-x. J Pediatr. 1990. PMID: 2370612
Analysis of chorionic villus cell collagen may facilitate antenatal diagnosis in selected cases, and the study of a larger number of patients may allow correlation of the biochemical defects with the natural history and prognosis....
Analysis of chorionic villus cell collagen may facilitate antenatal diagnosis in selected cases, and the study of a larger number of patient …
Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I.
Lin Y, Li X, Huang X, Zheng D, Liu Y, Lan F, Wang Z. Lin Y, et al. Injury. 2019 Dec;50(12):2215-2219. doi: 10.1016/j.injury.2019.10.033. Epub 2019 Oct 19. Injury. 2019. PMID: 31653500
We then assessed the effect of the mutation on the splicing of the COL1A1 gene by bioinformatics prediction and hybrid minigene splicing assay (HMSA). RESULTS: A novel splice site mutation c.1821+1 G>C was discovered in the proband by NGS and further confirmed by Sanger …
We then assessed the effect of the mutation on the splicing of the COL1A1 gene by bioinformatics prediction and hybrid minigene splic …
14 results