The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome (Q36695702)

15 August 2017

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome (English)

1 reference

15 August 2017

Ehlers-Danlos syndrome

0 references

15

Xavier Jeunemaitre

1 reference

15 August 2017

Juliette Albuisson

2

0 references

Tristan Mirault

Tristan Mirault

8

0 references

Brigitte Ranque

Brigitte Ranque

3

0 references

Elie Mousseaux

Elie Mousseaux

10

0 references

Pierre Boutouyrie

Pierre Boutouyrie

11

0 references

author name string

Michael Frank

1

1 reference

15 August 2017

Lisa Golmard

4

1 reference

15 August 2017

Jean-Michael Mazzella

5

1 reference

15 August 2017

Laurence Bal-Theoleyre

6

1 reference

15 August 2017

Anne-Laure Fauret

7

1 reference

15 August 2017

Nicolas Denarié

9

1 reference

15 August 2017

Jean-Noël Fiessinger

12

1 reference

15 August 2017

Joseph Emmerich

13

1 reference

15 August 2017

Emmanuel Messas

14

1 reference

15 August 2017

language of work or name

1 reference

11 March 2015

1 reference

European Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

23

1 reference

15 August 2017

12

1 reference

15 August 2017

1657-1664

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.32

15 August 2017

0 references

cites work

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

The Human Collagen Mutation Database 1998.

30 September 2017

1 reference

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Revised diagnostic criteria for the Marfan syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Structurally Distinct Collagen Types

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Heritable diseases of collagen

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795191

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25758994

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25758994

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Revised diagnostic criteria for the Marfan syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.32

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.32

1 reference

15 August 2017

1 reference

15 August 2017

1 reference