(Q24538707)

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9463320%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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

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9 November 2019

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9 November 2019

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D L Rimoin

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9 November 2019

Ralph S. Lachman

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R S Lachman

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9 November 2019

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M D Briggs

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9 November 2019

W G Cole

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9 November 2019

L M King

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9 November 2019

S S Golik

5

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9 November 2019

J Bonaventure

6

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9 November 2019

L Nuytinck

7

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9 November 2019

A De Paepe

8

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9 November 2019

J G Leroy

9

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9 November 2019

L Biesecker

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9 November 2019

M Lipson

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9 November 2019

W R Wilcox

12

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9 November 2019

R G Knowlton

15

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9 November 2019

D H Cohn

16

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9 November 2019

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1 February 1998

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9 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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9 November 2019

62

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9 November 2019

2

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9 November 2019

311-319

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9 November 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

Characterization of human and mouse cartilage oligomeric matrix protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

Integrin-associated protein is a receptor for the C-terminal domain of thrombospondin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

24 March 2017

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

27 September 2017

Genetic heterogeneity in multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

27 September 2017

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

27 September 2017

Thrombospondin mediates calcium mobilization in fibroblasts via its Arg-Gly-Asp and carboxyl-terminal domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

27 September 2017

Establishment of a clonal human chondrosarcoma cell line with cartilage phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

30 May 2018

Mutations in paramecium calmodulin indicate functional differences between the C-terminal and N-terminal lobes in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

30 May 2018

Conformation dependence of integrin-type II collagen binding. Inability of collagen peptides to support alpha 2 beta 1 binding, and mediation of adhesion to denatured collagen by a novel alpha 5 beta 1-fibronectin bridge

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376889

29 November 2018

A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The biochemical defect of pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Slippery DNA and diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of typical pseudoachondroplasia to chromosome 19

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cartilage oligomeric matrix protein and thrombospondin 1. Purification from articular cartilage, electron microscopic structure, and chondrocyte binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a receptor candidate for the carboxyl-terminal cell binding domain of thrombospondins

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trinucleotide repeat expansion and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

1 reference

https://api.crossref.org/works/10.1086%2F301713

7 January 2021

based on heuristic

inferred from DOI database lookup

Dysplasia epiphysialis multiplex

1 reference

https://api.crossref.org/works/10.1086%2F301713

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

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9 November 2019

PMC publication ID

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Europe PubMed Central

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9 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

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9 November 2019

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