(Q34327290)

1 August 2017

title

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome (English)

1 reference

1 August 2017

main subject

Ehlers-Danlos syndrome

0 references

1 reference

5

Mireille Claustres

1 reference

1 August 2017

Aurélie Plancke

1

1 reference

1 August 2017

Muriel Holder-Espinasse

2

1 reference

1 August 2017

Valérie Rigau

3

1 reference

1 August 2017

Sylvie Manouvrier

4

1 reference

1 August 2017

Philippe Khau Van Kien

6

1 reference

1 August 2017

publication date

20 May 2009

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

17

1 reference

1 August 2017

issue

11

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1 August 2017

page(s)

1411-1416

1 reference

Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway

6 July 2018

1 reference

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

6 July 2018

1 reference

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Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway.

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

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.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

The Human Collagen Mutation Database 1998.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

Collagens: molecular biology, diseases, and potentials for therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

Inheritance of Ehlers-Danlos type IV syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

Targeting gene therapy for osteogenesis imperfecta

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986673

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19455184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19455184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.76

1 reference

1 August 2017

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1 August 2017

1 reference