(Q24318493)

English

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

Ehlers-Danlos syndrome

0 references

Collagen type V alpha 1 chain

1 reference

GOA release 2020-03-11

skin development

1 reference

GOA release 2020-03-11

author name string

N P Burrows

1

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

A C Nicholls

2

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

A J Richards

3

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

C Luccarini

4

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

J B Harrison

5

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

J R Yates

6

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

F M Pope

7

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

63

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

390-398

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

19 March 2017

Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

19 March 2017

Ehlers-Danlos syndrome has varied molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Another look at collagen V and XI molecules.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Branch nucleophile selection in pre-mRNA splicing: evidence for the bulged duplex model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Articular mobility in an African population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

UACUAAC is the preferred branch site for mammalian mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

The pro-alpha 1(V) collagen chain. Complete primary structure, distribution of expression, and comparison with the pro-alpha 1(XI) collagen chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Characterization of a novel collagen chain in human placenta and its relation to AB collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

27 September 2017

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

30 May 2018

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

30 May 2018

International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377290

29 November 2018

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

https://pubmed.ncbi.nlm.nih.gov/9683580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of the mammalian branchpoint sequence in pre-mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9683580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

ResearchGate publication ID

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