(Q33673862)

English

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene

scientific article

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene (English)

1 reference

Europe PubMed Central

28 July 2017

Ehlers-Danlos syndrome

0 references

author name string

Carr AJ

1

1 reference

Europe PubMed Central

28 July 2017

Chiodo AA

2

1 reference

Europe PubMed Central

28 July 2017

Hilton JM

3

1 reference

Europe PubMed Central

28 July 2017

Chow CW

4

1 reference

Europe PubMed Central

28 July 2017

Hockey A

5

1 reference

Europe PubMed Central

28 July 2017

Cole WG

6

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 April 1994

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

31

1 reference

Europe PubMed Central

28 July 2017

306-311

1 reference

Europe PubMed Central

28 July 2017

4

1 reference

Europe PubMed Central

28 July 2017

Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

A hereditary dysplasia of collagen tissues in sheep.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

21 June 2018

International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049803

30 October 2018

Collagen Made of Extended alpha-Chains, Procollagen, in Genetically-Defective Dermatosparaxic Calves

1 reference

https://pubmed.ncbi.nlm.nih.gov/8071956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8071956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Percutaneous absorption of methotrexate: effect on epidermal DNA synthesis in hairless mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/8071956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/8071956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/8071956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8071956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/8071956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.31.4.306

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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0 references

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