(Q28215523)

Characterization of human matrilin-3 (MATN3).

inferred from title

molecular interaction

1 reference

Michael D Briggs

1

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Kathryn L Chapman

series ordinal

2

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language of work or name

English

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publication date

May 2002

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published in

Human Mutation

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volume

19

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page(s)

465-78

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issue

5

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

The matrilins: a novel family of oligomeric extracellular matrix proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Gonadal mosaicism in pseudoachondroplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Molecular diagnosis is important to confirm suspected pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Characterization of human and mouse cartilage oligomeric matrix protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

COL9A3: A third locus for multiple epiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

The matrilins: a growing family of A-domain-containing proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Expression of matrilin-1, -2 and -3 in developing mouse limbs and heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

The distribution of cartilage oligomeric matrix protein (COMP) in tendon and its variation with tendon site, age and load

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Multiple epiphysial dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Cartilage oligomeric matrix protein (COMP) is an abundant component of tendon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Linkage of typical pseudoachondroplasia to chromosome 19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Molecular structure and tissue distribution of matrilin-3, a filament-forming extracellular matrix protein expressed during skeletal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

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

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Electron microscopical study in multiple epiphyseal dysplasia type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Severe pseudoachondroplasia with parental consanguinity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10066

7 January 2021

Identifiers

DOI

10.1002/HUMU.10066

1 reference

Consolidated OpenCitations Corpus – April 2017

906532

906532

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference