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Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta.

作者信息

Bateman J F, Chan D, Lamande S, Mascara T, Cole W G

机构信息

Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

Ann N Y Acad Sci. 1988;543:95-105. doi: 10.1111/j.1749-6632.1988.tb55321.x.

DOI:10.1111/j.1749-6632.1988.tb55321.x
PMID:3214058
Abstract
摘要

相似文献

1
Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta.
Ann N Y Acad Sci. 1988;543:95-105. doi: 10.1111/j.1749-6632.1988.tb55321.x.
2
Severe osteogenesis imperfecta: type 1 collagen abnormalities in 17 skin fibroblast cell lines.
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3
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.异常I型胶原延迟三螺旋形成可通过降低温度得到纠正。成骨不全症可变表达家系的研究。
Ann N Y Acad Sci. 1988;543:85-92. doi: 10.1111/j.1749-6632.1988.tb55319.x.
4
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.
5
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.与COL1A2相关且与I型胶原分子结构缺陷有关的成骨不全症的临床变异性。
J Med Genet. 1989 Jun;26(6):358-62. doi: 10.1136/jmg.26.6.358.
6
Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVB.IVB型成骨不全症患者中，尽管三螺旋区域存在结构突变，但过度修饰的I型胶原蛋白仍具有正常的热稳定性。
Ann N Y Acad Sci. 1988;543:83-4. doi: 10.1111/j.1749-6632.1988.tb55318.x.
7
Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the triple-helical domain of type I collagen.中度严重型成骨不全症：生化研究显示I型胶原蛋白三螺旋结构域中缺陷定位存在差异。
Matrix. 1990 Jul;10(3):200-5. doi: 10.1016/s0934-8832(11)80169-1.
8
The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta.
Clin Orthop Relat Res. 1997 Oct(343):235-48.
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Osteogenesis imperfecta: from phenotype to genotype and back again.成骨不全症：从表型到基因型再回归表型
Int J Exp Pathol. 1994 Aug;75(4):233-41.
10
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.I型胶原蛋白COL1A1基因3'端附近的移码突变预示着延长的原α1（I）链，并导致I型成骨不全。
J Clin Invest. 1990 Jan;85(1):282-90. doi: 10.1172/JCI114424.

引用本文的文献

1
A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.一种影响胶原蛋白COL1A1基因中两个上游外显子前体mRNA剪接的5'剪接位点突变。外显子8跳跃和外显子7定义改变产生截短的前α1（I）链，带有使三螺旋不稳定的非胶原插入序列。
Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):729-35. doi: 10.1042/bj3020729.
2
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。
Biochem J. 1991 Jun 15;276 ( Pt 3)(Pt 3):765-70. doi: 10.1042/bj2760765.
3
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。
Biochem J. 1992 Nov 15;288 ( Pt 1)(Pt 1):131-5. doi: 10.1042/bj2880131.