ETIOLOGY AND PATHOGENESIS OF HERITABLE CONNECTIVE-TISSUE DISEASES

被引：17

作者：

COLE, WG

机构：

[1] Department of Orthopaedic Surgery, Royal Children's Hospital, Melbourne

来源：

JOURNAL OF PEDIATRIC ORTHOPAEDICS | 1993年 / 13卷 / 03期

关键词：

CHONDRODYSPLASIAS; COLLAGEN; EHLERS-DANLOS SYNDROME; OSTEOGENESIS IMPERFECTA; SPONDYLOEPIPHYSEAL DYSPLASIA;

D O I：

10.1097/01241398-199305000-00023

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

There are many heritable disorders of the connective tissues and many of them produce major musculoskeletal anomalies. The etiology of most of them is unknown, but collagen mutations have been characterized in osteogenesis imperfecta (OI), in some forms of the Ehlers-Danlos syndrome (EDS) and in some of the chondrodysplasias. These diseases, particularly OI, provide a model for investigation of other heritable connective tissue diseases in which the mutant genes have not yet been identified.

引用

页码：392 / 403

页数：12

共 46 条

[1]

Baker A.T., Ramshaw J., Chan D., Cole W.G., Baleman J.F., Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta: The effect of al(l) glycine to argin-ine substitutions, Biochcm J, 261, pp. 253-257, (1989)

[2]

Buteman J.F., Chan D., Lamande S., Mascara T., Cole W.G., Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta, Ann N Y Acad Sci, 543, pp. 95-105, (1988)

[3]

Bateman J.F., Chan D., Mascara T., Rogers J.G., Cole W.G., Collagen delects in lethal perinatal osteogenesis imperfecta, Biochcm J, 240, pp. 699-708, (1986)

[4]

Bateman J.F., Chan D., Walker I., Rogers J.G., Cole W.G., Lethal osteogenesis imperfecta due to a substitution of arginine for glycine at residue.391 of the a 1(1) chain of type 1 collagen, J Biol Chem, 262, pp. 7021-7027, (1987)

[5]

Bateman J.F., Hannigan M., Chan D., Cole W.G., Characterization of a type 1 collagen a2(L) glycine 586 to valine substitution in osteogenesis imperfecta type IV: Detection of the mutation and prenatal diagnosis by a chemical cleavage method, Biochcm J, 276, pp. 765-770, (1991)

[6]

Baleman J.F., Lamande S., Dahi H., Chan D., Cole W.G., Substitution of arginine for glycine 664 in the collagen aid) chain in lethal perinatal osteogenesis imperfecta: Demonstration of the peptide defect by in vitro expression of the mutant cDNA, J Biol Chem I988, 263, pp. 11627-11630

[7]

Bateman J.F., Lamande S.R., Dahi H.-H., Chan D., Mascara T., Cole W.G., A frameshift mutation results in a truncated non-functional proal(I) carboxy-terminal propeptide of type 1 procollagen in osteogenesis imperfecta, J Biol Chem, 264, pp. 10960-10964, (1989)

[8]

Bateman J.F., Mascara T., Chan D., Cole W.G., Abnormal Type I Collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta, Biochcm J, 217, pp. 103-115, (1984)

[9]

Baleman J.F., Mascara T., Cole W.G., Stacey A., Jaenisch R., Collagen protein abnormalities produced by site-directed mutagenesis of the pro-al(I) gene, Conned Tissue Res, 20, pp. 205-212, (1989)

[10]

Bateman J.F., Mascara T., Cole W.G., Stacey A., Jaenisch R., The study of collagen structure and function by site-directed mutagenesis of collagen genes, Ann NY Acad Sci, 580, pp. 324-329, (1990)

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