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Type II collagen mutations in rare and common cartilage diseases

Author

Miikka Vikkula

Published in: Annals of Medicine

Date of publication: April 1, 1994

Language: English

Bibliographic databases:

Cites articles 29

Date

Title

Authors

August 1, 1984

Heritable diseases of collagen
May 1985

Identification and characterization of the human type II collagen gene (COL2A1)
July 1, 1985

A highly polymorphic region 3' to the human type II collagen gene.
December 1, 1987

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen
April 1, 1989

Predisposition to familial osteoarthrosis linked to type II collagen gene
December 1, 1989

Type II collagen screening in the human chondrodysplasias
July 1, 1989

Structural analyses of the polymorphic area in type II collagen gene
May 1, 1989

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
November 1, 1990

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes
February 1, 1990

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome
September 1, 1990

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia
May 1, 1990

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia
February 1, 1991

Genomic organization of the human procollagen alpha 1(II) collagen gene
August 1, 1991

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
November 1, 1991

Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene
September 1, 1991

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia
1992

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA
May 1, 1992

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis
April 1, 1992

Transgenic mice as models for heritable diseases,Transgenic Mice as Models for Heritable Diseases

,
July 1, 1992

Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain

, ,
April 1993

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
April 1993

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

, ,
July 1, 1993

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis
August 1, 1993

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints
May 1, 1993

Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice

, ,
October 1, 1993

Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis
April 1, 1993

Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion
September 1993

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
September 1, 1993

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

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