Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV (Q33594086)

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scientific article published on June 1, 1992

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English	Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV	scientific article published on June 1, 1992

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV (English)

1 reference

10.1136/JMG.29.6.375

https://api.crossref.org/works/10.1136/JMG.29.6.375

16 October 2022

Ehlers-Danlos syndrome

0 references

1 reference

10.1136/JMG.29.6.375

https://api.crossref.org/works/10.1136/JMG.29.6.375

16 October 2022

1

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L. Nuytinck

1 reference

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16 October 2022

author name string

P. Narcisi

2

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16 October 2022

A. Nicholls

3

1 reference

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16 October 2022

J. P. Renard

4

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16 October 2022

F. M. Pope

5

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16 October 2022

A. De Paepe

6

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16 October 2022

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publication date

1 June 1992

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Europe PubMed Central

28 July 2017

full work available at URL

https://europepmc.org/articles/PMC1015985

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Europe PubMed Central

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Europe PubMed Central

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16 October 2022

https://europepmc.org/articles/PMC1015985?pdf=render

Portable Document Format

online access status

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Europe PubMed Central

1 reference

Europe PubMed Central

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16 October 2022

https://syndication.highwire.org/content/doi/10.1136/jmg.29.6.375

1 reference

10.1136/JMG.29.6.375

https://api.crossref.org/works/10.1136/JMG.29.6.375

16 October 2022

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

29

1 reference

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28 July 2017

6

1 reference

Europe PubMed Central

28 July 2017

375-380

1 reference

Europe PubMed Central

28 July 2017

Heritable diseases of collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Clinical presentations of Ehlers Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

21 June 2018

Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

28 July 2018

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015985

30 October 2018

Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1619632

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1619632

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The estimation of two collagens from human dermis by interrupted gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1619632

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/1619632

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1619632

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/1619632

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous arterial perforation: the Ehlers-Danlos specter

1 reference

https://pubmed.ncbi.nlm.nih.gov/1619632

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

24

1 reference

10.1136/JMG.29.6.375

https://api.crossref.org/works/10.1136/JMG.29.6.375

16 October 2022

Identifiers

10.1136/JMG.29.6.375

1 reference

Europe PubMed Central

28 July 2017

release_pz6kggxw4bgabc2jl27w2zfjvq

1 reference

https://api.fatcat.wiki/v0/release/pz6kggxw4bgabc2jl27w2zfjvq

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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