(Q78051836)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

main subject

Ehlers-Danlos syndrome

1 reference

1 reference

1

1 reference

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10 December 2019

Michael Raghunath

3

1 reference

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10 December 2019

author name string

Nuytinck L

2

1 reference

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10 December 2019

Hausser I

4

1 reference

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10 December 2019

De Paepe A

5

1 reference

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10 December 2019

Steinmann B

6

1 reference

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10 December 2019

publication date

1 May 2002

1 reference

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American Journal of Medical Genetics Part A

10 December 2019

published in

1 reference

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10 December 2019

volume

109

1 reference

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10 December 2019

issue

4

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10 December 2019

page(s)

284-290

1 reference

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

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Diversity in the processing events at the N-terminus of type-V collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

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)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10373

21 January 2018

Identifiers

DOI

10.1002/AJMG.10373

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference