(Q22003991)

2 July 2017

title

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II (English)

1 reference

Collagen type V alpha 2 chain

2 July 2017

main subject

Ehlers-Danlos syndrome

0 references

1 reference

GOA release 2020-03-11

A J Richards

1

A J

Richards

1 reference

2 July 2017

S Martin

2

S

Martin

1 reference

2 July 2017

A C Nicholls

3

A C

Nicholls

1 reference

2 July 2017

J B Harrison

4

J B

Harrison

1 reference

2 July 2017

F M Pope

5

F M

Pope

1 reference

2 July 2017

N P Burrows

6

N P

Burrows

1 reference

2 July 2017

language of work or name

English

0 references

publication date

1 October 1998

1 reference

Journal of Medical Genetics

2 July 2017

published in

1 reference

2 July 2017

volume

35

1 reference

2 July 2017

issue

10

1 reference

2 July 2017

page(s)

846-848

1 reference

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

2 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

A comprehensive genetic map of the human genome based on 5,264 microsatellites

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

A Gene Map of the Human Genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Reduction of type V collagen using a dominant-negative strategy alters the regulation of fibrillogenesis and results in the loss of corneal-specific fibril morphology

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Another look at collagen V and XI molecules.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Type V collagen: molecular structure and fibrillar organization of the chicken alpha 1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Cartilage contains mixed fibrils of collagen types II, IX, and XI.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Collagen family of proteins

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Fetal membrane collagens: identification of two new collagen alpha chains

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Keratoconus and the Ehlers-Danlos syndrome: a new aspect of keratoconus

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Type V collagen synthesis and deposition by chicken embryo corneal fibroblasts in vitro.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051462

Comparison of collagen types in adult and fetal bovine corneas

30 May 2018

1 reference

12 December 2020

Extraction, isolation and characterization of neutral salt soluble type V collagen from fetal calf skin

1 reference

12 December 2020

Characterization of the tissue form of type V collagen from chick bone

1 reference

12 December 2020

Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter

1 reference

12 December 2020

Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2

1 reference

12 December 2020

Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous

1 reference

12 December 2020

COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II

1 reference

12 December 2020

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

1 reference

12 December 2020

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.35.10.846

7 January 2021

inferred from DOI database lookup

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.35.10.846

7 January 2021

inferred from DOI database lookup

Genome maps 7. The human transcript map. Wall chart

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.35.10.846

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.35.10.846

1 reference

OpenCitations bibliographic resource ID

2 July 2017

3502166

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3502166

1 reference