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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
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Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
title
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
author
Geert Mortier
series ordinal
2
1 reference
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Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
John Loughlin
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4
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Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
author name string
Chapman KL
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1
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PubMed ID
11479597
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
Chapman K
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3
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PubMed ID
11479597
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
Grant ME
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5
1 reference
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Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
Briggs MD
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
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English
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publication date
1 August 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
volume
28
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Europe PubMed Central
PubMed ID
11479597
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
page(s)
393-396
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Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng573
0 references
cites work
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
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Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
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Characterization of human matrilin-3 (MATN3).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and mapping of the mouse matrilin-3 gene (Matn3), a member of a gene family containing a U12-type AT-AC intron.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assembly of a novel cartilage matrix protein filamentous network: molecular basis of differential requirement of von Willebrand factor A domains
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
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Normal skeletal development of mice lacking matrilin 1: redundant function of matrilins in cartilage?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG573
retrieved
7 January 2021
based on heuristic
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Identifiers
DOI
10.1038/NG573
1 reference
stated in
Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
Fatcat ID
release_dw53nh7oq5d5phblcc324ut2du
1 reference
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Fatcat
reference URL
https://api.fatcat.wiki/v0/release/dw53nh7oq5d5phblcc324ut2du
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24 November 2022
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PubMed ID
11479597
1 reference
stated in
Europe PubMed Central
PubMed ID
11479597
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
ResearchGate publication ID
31971006
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