(Q59615695)

English

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

multiple epiphyseal dysplasia

1 reference

based on heuristic

inferred from title

Dominique Marcus-Soekarman

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

author name string

Gail C Jackson

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Irene Stolte-Dijkstra

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Aad Verrips

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Jacqueline A Taylor

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Michael D Briggs

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

language of work or name

0 references

publication date

1 April 2010

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

152A

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

863-869

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

The Staden package, 1998

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysplasia epiphysealis multiplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transmission of cell stress from endoplasmic reticulum to mitochondria: enhanced expression of Lon protease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monoclonal antibody against chicken type IX collagen: preparation, characterization, and recognition of the intact form of type IX collagen secreted by chondrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On the role of type IX collagen in the extracellular matrix of cartilage: type IX collagen is localized to intersections of collagen fibrils

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID 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

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

COL9A3: A third locus for multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID 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

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple epiphysial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell stress gives a red light to the mitochondrial cell death pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20358595

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.33240

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20358595%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q59615695&oldid=1711062329"