Imperfect Collagenesis in Osteogenesis Imperfecta The Consequences of Cysteine‐Glycine Substitutions upon Collagen Structure and Metabolism^a

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

Mendelian Inheritance in Man

1987 • 599 citations

Heritable Diseases of Collagen

1984 • 572 citations

OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES

1986 • 445 citations

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

1981 • 334 citations

Assembly of collagen fibrils de novo by cleavage of the type I pC-collagen with procollagen C-proteinase. Assay of critical concentration demonstrates that collagen self-assembly is a classical example of an entropy-driven process.

1987 • 314 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

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.

1985 • 217 citations

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

1986 • 216 citations

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

1984 • 207 citations

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

1984 • 195 citations

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

1985 • 192 citations

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

1988 • 192 citations

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.

1975 • 189 citations

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

1984 • 176 citations

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

1984 • 173 citations

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1980 • 160 citations

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1988 • 146 citations

Collagen defects in lethal perinatal osteogenesis imperfecta

1986 • 126 citations

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.

1985 • 125 citations

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

1986 • 122 citations

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.

1983 • 121 citations

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

1986 • 120 citations

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

1985 • 113 citations

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.

1985 • 113 citations

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

1983 • 107 citations

Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen.

1977 • 106 citations

Formation of the Triple Helix of Type I Procollagen in cellulo. A Kinetic Model Based on cis-trans Isomerization of Peptide Bonds

1981 • 105 citations

Molecular Structure

1976 • 104 citations

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.

1987 • 100 citations

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.

1987 • 96 citations

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

1983 • 94 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

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

1985 • 87 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

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.

1988 • 83 citations

Disorder of collagen metabolism in a patient with osteogenesis imperfecta (lethal type): increased degree of hydroxylation of lysine in collagen types I and III

1981 • 82 citations

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

1987 • 79 citations

Suppression of fibroblast proliferation and lysyl hydroxylase activity by minoxidil.

1987 • 78 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

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

1987 • 69 citations

A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase.

1984 • 68 citations

Ehlers-Danlos Syndrome

1987 • 63 citations

Induction of procollagen processing in fibroblast cultures by neutral polymers.

1986 • 63 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

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.

1988 • 57 citations

Linkage between dentinogenesis imperfecta and Gc

1982 • 56 citations

Osteoporosis‐pseudoglioma syndrome: Report of three affected sibs and an overview

1985 • 56 citations

Altered Helical Structure of a Homotrimer of α1(I)Chains Synthesized by Fibroblasts from a Variant of Osteogenesis Imperfecta

1985 • 53 citations

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

1987 • 52 citations

Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.

1986 • 52 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

A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1).

1988 • 48 citations

Intracellular degradation of newly synthesized collagen is conformation‐dependent

1981 • 40 citations

Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: Correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

1988 • 39 citations

Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity^a

1988 • 36 citations

An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta.

1984 • 36 citations

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

1988 • 36 citations

Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.

1986 • 34 citations

Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple‐helical domain

1986 • 30 citations

A structural mutation of the collagen alpha 1(I)CB7 peptide in lethal perinatal osteogenesis imperfecta.

1987 • 28 citations

Ehlers-Danlos syndrome. A variant characterized by the deficiency of pro alpha 2 chain of type I procollagen

1987 • 25 citations

Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia

1988 • 23 citations

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen

1986 • 23 citations

Chromosomal Localization of Human Collagen Genes

1987 • 19 citations

Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III)

1986 • 12 citations

A Structurally Abnormal α2(I) Collagen Chain in a Further Patient with the Ehlers‐Danlos Syndrome Type VIIa

1985 • 11 citations

Analysis of cyanogen bromide peptides of type I collagen from a patient with lethal osteogenesis imperfecta. Overhydroxylation of lysine residues is found all along the collagen chains

1983 • 11 citations

Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teeth

1982 • 5 citations

Delayed Triple‐Helix Formation of Abnormal Type I Collagen Is Corrected by Reduced Temperature

1988 • 4 citations

57 A STRUCTURAL DEFECT OF TYPE III COLLAGEN CAUSING EHLERS-DANLOS SYNDROME TYPE IV

1986 • 3 citations

Normal Thermal Stability of an Overmodified Type I Collagen Despite a Structural Mutation within the Triple Helical Region in a Case of Osteogenesis Irnperfecta Type IVB

1988 • 1 citations