Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. (Q34085472)

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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)

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9 November 2019

2

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9 November 2019

John Loughlin

4

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9 November 2019

author name string

Chapman KL

1

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9 November 2019

Chapman K

3

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9 November 2019

Grant ME

5

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9 November 2019

Briggs MD

6

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9 November 2019

language of work or name

English

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publication date

1 August 2001

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9 November 2019

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9 November 2019

volume

28

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9 November 2019

page(s)

393-396

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9 November 2019

issue

4

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https://scigraph.springernature.com/pub.10.1038/ng573

9 November 2019

exact match

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cites work

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

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

1 reference

7 January 2021

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.

1 reference

7 January 2021

Characterization of human matrilin-3 (MATN3).

1 reference

7 January 2021

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

7 January 2021

Assembly of a novel cartilage matrix protein filamentous network: molecular basis of differential requirement of von Willebrand factor A domains

1 reference

7 January 2021

Normal skeletal development of mice lacking matrilin 1: redundant function of matrilins in cartilage?

1 reference

7 January 2021

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia

1 reference

7 January 2021

Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture

1 reference

7 January 2021

Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues

1 reference

7 January 2021

Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes

1 reference

7 January 2021

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

7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG573

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11479597%20AND%20SRC:MED&resulttype=core&format=json

release_dw53nh7oq5d5phblcc324ut2du

9 November 2019

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/dw53nh7oq5d5phblcc324ut2du

24 November 2022

mapped directly with Wikidata item

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