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The Ehlers-Danlos syndrome: on beyond collagens
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
review article
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stated in
Europe PubMed Central
title
The Ehlers-Danlos syndrome: on beyond collagens
(English)
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stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
main subject
Ehlers-Danlos syndrome
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author name string
J R Mao
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
J Bristow
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
language of work or name
English
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publication date
1 May 2001
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stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
published in
Journal of Clinical Investigation
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
volume
107
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
page(s)
1063-1069
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stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
issue
9
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stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
cites work
SPARC, a matricellular protein that functions in cellular differentiation and tissue response to injury
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Thrombospondins as matricellular modulators of cell function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
The tenascin family of ECM glycoproteins: structure, function, and regulation during embryonic development and tissue remodeling
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
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).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Cell adhesion to tenascin-X mapping of cell adhesion sites and identification of integrin receptors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
DNA arrays for analysis of gene expression
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Mice deficient for tenascin-R display alterations of the extracellular matrix and decreased axonal conduction velocities in the CNS
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Primary mesenchymal cells isolated from SPARC-null mice exhibit altered morphology and rates of proliferation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Fibromodulin-null mice have abnormal collagen fibrils, tissue organization, and altered lumican deposition in tendon
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
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6 July 2018
The discoidin domain receptor tyrosine kinases are activated by collagen
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
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6 July 2018
Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
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6 July 2018
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Skin wounds and severed nerves heal normally in mice lacking tenascin-C
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Reversible unfolding of fibronectin type III and immunoglobulin domains provides the structural basis for stretch and elasticity of titin and fibronectin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Distinct tissue distribution in pigs of tenascin-X and tenascin-C transcripts.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Physical properties of the skin in the Ehlers-Danlos syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Decorin interacts with fibrillar collagen of embryonic and adult human skin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Mice develop normally without tenascin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209288
retrieved
6 July 2018
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
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11342567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
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
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11342567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The effect of proteoglycans on the morphology of collagen fibrils formed in vitro
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11342567
retrieved
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
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11342567
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1172/JCI12881
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
PMCID
209288
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
PubMed ID
11342567
1 reference
stated in
Europe PubMed Central
PubMed ID
11342567
retrieved
31 July 2017
ResearchGate publication ID
11993970
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