非致死性成骨不全中I型胶原蛋白基因（COL1A2）突变的鉴定 - Suppr

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超能文献

Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.

作者信息

Sztrolovics R, Glorieux F H, van der Rest M, Roughley P J

机构信息

Genetics Unit, Shriners Hospital for Crippled Children, Montreal, Quebec, Canada.

出版信息

Hum Mol Genet. 1993 Aug;2(8):1319-21. doi: 10.1093/hmg/2.8.1319.

DOI:10.1093/hmg/2.8.1319

PMID:8401517

Abstract

摘要

相似文献

Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.非致死性成骨不全中I型胶原蛋白基因（COL1A2）突变的鉴定

Hum Mol Genet. 1993 Aug;2(8):1319-21. doi: 10.1093/hmg/2.8.1319.

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.由于I型胶原蛋白COL1A2基因突变的亲代嵌合体导致致死性成骨不全复发。嵌合亲代表现出该疾病轻度形式的表型特征。

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Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.通过mRNA:cDNA序列错配的化学切割检测到因I型胶原蛋白α2(I)甘氨酸至精氨酸替代导致的致死性围生期成骨不全。

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Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.

J Biol Chem. 1994 May 20;269(20):14751-8.

Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.IV型成骨不全中I型胶原α2（I）链甘氨酸586突变为缬氨酸的特征分析。通过化学切割法检测该突变及进行产前诊断。

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Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.三种成骨不全症胶原蛋白α1（I）甘氨酸至丝氨酸突变的特征分析，显示出表型严重程度的位置依赖性梯度。

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Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.五例非致死性成骨不全患者Ⅰ型胶原蛋白α1（I）链C端三分之一区域丝氨酸被甘氨酸取代的情况。

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Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

Eur J Hum Genet. 1997 May-Jun;5(3):161-7.

Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.导致致死性围生期成骨不全的胶原蛋白COL1A1和COL1A2基因点突变的特征分析

J Biol Chem. 1989 Sep 25;264(27):15809-12.

Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.

Hum Mutat. 1994;3(3):324-6. doi: 10.1002/humu.1380030327.

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Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).成骨不全症：在俄罗斯巴什科尔托斯坦共和国（俄罗斯）患者中寻找突变。

Genes (Basel). 2022 Jan 10;13(1):124. doi: 10.3390/genes13010124.

Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.局部氨基酸序列模式主导了由甘氨酸突变导致的胶原蛋白结缔组织疾病——成骨不全症的异质性表型。

J Struct Biol. 2015 Oct;192(1):127-37. doi: 10.1016/j.jsb.2015.05.002. Epub 2015 May 15.

Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.由于I型胶原蛋白α2（I）链中第585位甘氨酸被缬氨酸替代，导致成骨不全中生长板破坏和进行性畸形。

J Med Genet. 1996 Nov;33(11):968-71. doi: 10.1136/jmg.33.11.968.

Hum Genet. 1994 Nov;94(5):497-503. doi: 10.1007/BF00211014.

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