Molecular heterogeneity in chondrodysplasias.

Dedifferentiated chondrocytes reexpress the differentiated collagen phenotype when cultured in agarose gels

1982 • 2,259 citations

Independent regulation of collagen types by chondrocytes during the loss of differentiated function in culture

1978 • 596 citations

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

1988 • 235 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

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

1987 • 185 citations

Morphologic studies in the skeletal dysplasias.

1979 • 134 citations

Absence of proteoglycan core protein in cartilage from the cmd/cmd (cartilage matrix deficiency) mouse.

1981 • 119 citations

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

1989 • 84 citations

Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.

1986 • 83 citations

A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV

1989 • 79 citations

The Chondrodystrophies

1975 • 69 citations

Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.

1988 • 67 citations

Chondrocytes from the cartilage proteoglycan-deficient mutant, nanomelia, synthesize greatly reduced levels of the proteoglycan core protein transcript

1987 • 57 citations

Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly.

1988 • 57 citations

Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.

1988 • 46 citations

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

1988 • 44 citations

Absence of proteoglycan core protein in the cartilage mutant nanomelia

1981 • 38 citations

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.

1986 • 31 citations

Achondropiasia is not caused by mutation in the gene for type II collagen

1988 • 15 citations

Animal Models with Chondrodysplasia/Osteochondrodysplasm

1988 • 8 citations

Studies on the Avian Chondrodysplasia Mutant, Nanomelia

1988 • 5 citations

Approaches to Investigating Growth Plate Cartilage in the Human Chondrodysplasias

1988 • 4 citations

Biochemical Correlations in Animal Models of Chondrodysplasias

1988 • 3 citations

Comparisons and Correlations of Skeletal Defects in Mouse and Human

1988 • 2 citations

The Comparative Biology of Chondrodysplasias in Mice

1988 • 2 citations