Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

1991 • 2,028 citations

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1994 • 1,273 citations

c-Fos: a Key Regulator of Osteoclast-Macrophage Lineage Determination and Bone Remodeling

1994 • 1,253 citations

Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.

1994 • 1,138 citations

Bone and haematopoietic defects in mice lacking c-fos

1992 • 939 citations

The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

1994 • 751 citations

The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGFβ superfamily

1992 • 483 citations

Mutations in collagen genes: causes of rare and some common diseases in humans

1991 • 479 citations

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

1975 • 421 citations

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1995 • 398 citations

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

1995 • 370 citations

Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease.

1994 • 297 citations

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

1990 • 280 citations

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

1993 • 260 citations

Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

1989 • 248 citations

Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

1993 • 213 citations

Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.

1993 • 188 citations

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1993 • 181 citations

THE EPIDEMIOLOGY OF OSTEOARTHRITIS

1982 • 165 citations

A NEW CHONDRODYSTROPHIC MUTANT IN MICE

1971 • 164 citations

Normal long bone growth and development in type X collagen-null mice

1994 • 147 citations

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.

1991 • 132 citations

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

1986 • 83 citations

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

1992 • 82 citations

Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias

1994 • 82 citations

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

1994 • 78 citations

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus

1994 • 51 citations

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM 2) to a region of chromosome 1 containing a type IX collagen gene

1994 • 29 citations

Gli3 expression is affected in the morphogenetic mouse mutants add and Xt.

1993 • 10 citations

The genetics of skeletal development.

1993 • 10 citations