A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity (Q24536139)

5 July 2017

title

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity (English)

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multiple epiphyseal dysplasia

5 July 2017

main subject

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7

Spector TD

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5 July 2017

12

Latos-Bielenska A

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5 July 2017

Czarny-Ratajczak M

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5 July 2017

Lohiniva J

2

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5 July 2017

Rogala P

3

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Kozlowski K

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Perälä M

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5 July 2017

Carter L

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Kolodziej L

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Seppänen U

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Glazar R

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5 July 2017

Królewski J

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Ala-Kokko L

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5 July 2017

language of work or name

English

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publication date

14 September 2001

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American Journal of Human Genetics

5 July 2017

published in

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5 July 2017

volume

69

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5 July 2017

issue

5

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5 July 2017

page(s)

969-980

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Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX

5 July 2017

cites work

1 reference

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Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes

24 March 2017

1 reference

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A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

24 March 2017

1 reference

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Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

24 March 2017

1 reference

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COL9A3: A third locus for multiple epiphyseal dysplasia

24 March 2017

1 reference

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Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule

24 March 2017

1 reference

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Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

24 March 2017

1 reference

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Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites

24 March 2017

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Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19

24 March 2017

1 reference

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Characterization of human and mouse cartilage oligomeric matrix protein

24 March 2017

1 reference

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

24 March 2017

1 reference

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The crystal structure of a five-stranded coiled coil in COMP: a prototype ion channel?

24 March 2017

1 reference

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Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3

24 March 2017

1 reference

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Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia

24 March 2017

1 reference

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Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants

24 March 2017

1 reference

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Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation

27 September 2017

1 reference

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Analysis of cartilage oligomeric matrix protein (COMP) in synovial fibroblasts and synovial fluids.

27 September 2017

1 reference

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Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

27 September 2017

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Convenient single-step, one tube purification of PCR products for direct sequencing

27 September 2017

1 reference

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A second-generation linkage map of the human genome

27 September 2017

1 reference

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COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins

27 September 2017

1 reference

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An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32.

30 May 2018

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Sulphate transporter gene mutations in apparently isolated club foot

30 May 2018

1 reference

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Molecular diagnosis is important to confirm suspected pseudoachondroplasia

29 November 2018

1 reference

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C. John Hodson Lecture. Reflections on epiphyseal dysplasias

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274373

Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia

29 November 2018

1 reference

12 December 2020

A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain

1 reference

12 December 2020

Hereditary multiple epiphysial dysplasia

1 reference

12 December 2020

Multiple epiphyseal dysplasia. A contribution to the problem of spinal involvement

1 reference

12 December 2020

Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage

1 reference

12 December 2020

Electron microscopy of native cartilage oligomeric matrix protein purified from the Swarm rat chondrosarcoma reveals a five-armed structure

1 reference

12 December 2020

Calcium ion binding to thrombospondin 1

1 reference

12 December 2020

International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone

1 reference

12 December 2020

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia

1 reference

12 December 2020

Dysplasia epiphysialis multiplex

1 reference

12 December 2020

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

1 reference

12 December 2020

Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis

1 reference

12 December 2020

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

1 reference

12 December 2020

Identifiers

DOI

10.1086/324023

1 reference

release_bd3uamc6yjgkjeqtrtza5akbqi

5 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bd3uamc6yjgkjeqtrtza5akbqi

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1274373

1 reference

5 July 2017

1 reference