Brittle bones - fragile molecules: disorders of collagen gene structure and expression

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

1990 • 847 citations

Heritable Diseases of Collagen

1984 • 572 citations

THE FAMILY OF COLLAGEN GENES

1990 • 511 citations

Embryonic lethal mutation in mice induced by retrovirus insertion into the α1(I) collagen gene

1983 • 422 citations

[10] Posttranslational enzymes in the biosynthesis of collagen: Intracellular enzymes

1982 • 406 citations

Embryonic lethal mutation in mouse collagen I gene causes rupture of blood vessels and is associated with erythropoietic and mesenchymal cell death

1984 • 285 citations

Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

1989 • 248 citations

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene

1988 • 235 citations

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

1988 • 228 citations

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

1984 • 207 citations

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

1985 • 192 citations

The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen

1987 • 185 citations

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1984 • 176 citations

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

1990 • 167 citations

Glycine to serine substitution in the triple helical domain of pro-α 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

1989 • 153 citations

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

1990 • 144 citations

A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.

1988 • 123 citations

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

1984 • 121 citations

The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen.

1983 • 113 citations

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

1985 • 113 citations

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

1990 • 99 citations

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

1983 • 94 citations

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV

1989 • 92 citations

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.

1987 • 91 citations

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.

1990 • 91 citations

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

1988 • 83 citations

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.

1989 • 79 citations

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

1988 • 75 citations

An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

1990 • 70 citations

Structural model of the collagen-like region of C1q comprising the kink region and the fibre-like packing of the six triple helices

1985 • 69 citations

Homozygous osteogenesis imperfecta unlinked to collagen I genes

1988 • 66 citations

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.

1989 • 62 citations

Conformational implications of amino acid sequence regularities in collagen

1975 • 61 citations

The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.

1986 • 51 citations

Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta

1987 • 41 citations

Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.

1988 • 39 citations

A single base mutation that converts glycine 907 of the α2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta

1989 • 37 citations

The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.

1990 • 30 citations