(Q36695229)

15 August 2017

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family (English)

1 reference

15 August 2017

Ehlers-Danlos syndrome

0 references

1 reference

Svend Rand-Hendriksen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Agnete Jørgensen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Toril Fagerheim

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Per I Lunde

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Torgrim O Vorren

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Melanie G Pepin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Dru F Leistritz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Peter H Byers

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

10 September 2014

1 reference

European Journal of Human Genetics

15 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

796-802

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

1 June 2020

copyright license

start time

10 September 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.181

0 references

cites work

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Structural basis of fibrillar collagen trimerization and related genetic disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Chronic treatment with a broad-spectrum metalloproteinase inhibitor, doxycycline, prevents the development of spontaneous aortic lesions in a mouse model of vascular Ehlers-Danlos 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=4795069

Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos 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=4795069

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos 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=4795069

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos 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=4795069

G protein-coupled receptor-dependent development of human frontal cortex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Collagens, modifying enzymes and their mutations in humans, flies and worms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Clinical applications of arterial stiffness; definitions and reference values

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

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=4795069

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=4795069

The Human Collagen Mutation Database 1998.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

The human type I collagen mutation database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Impact of aortic stiffness on left ventricular function and B-type natriuretic peptide release in severe aortic stenosis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795069

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

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.181

Disorder of collagen metabolism in a patient with osteogenesis imperfecta (lethal type): increased degree of hydroxylation of lysine in collagen types I and III

21 January 2018

1 reference

12 December 2020

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder

1 reference

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

12 December 2020

Compound-heterozygous Marfan syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

release_paua5fmscvcklfymvt4ane4qga

1 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/paua5fmscvcklfymvt4ane4qga

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205403%20AND%20SRC:MED&resulttype=core&format=json