Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations (Q28215523)

multiple epiphyseal dysplasia

Europe PubMed Central

title

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations (English)

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main subject

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phenotype

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Characterization of human matrilin-3 (MATN3).

inferred from title

molecular interaction

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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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issue

5

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page(s)

465-78

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cites work

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

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

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The matrilins: a novel family of oligomeric extracellular matrix proteins

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

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

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

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Gonadal mosaicism in pseudoachondroplasia.

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

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

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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.

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

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

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

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

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Molecular diagnosis is important to confirm suspected pseudoachondroplasia

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Characterization of human and mouse cartilage oligomeric matrix protein

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

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COL9A3: A third locus for multiple epiphyseal dysplasia

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

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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

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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

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

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

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

21 January 2018

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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

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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7 January 2021

Multiple epiphysial dysplasia

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Linkage of typical pseudoachondroplasia to chromosome 19

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

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

7 January 2021

Electron microscopical study in multiple epiphyseal dysplasia type II

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7 January 2021

Severe pseudoachondroplasia with parental consanguinity.

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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