(Q33566317)

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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

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scholarly article

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Europe PubMed Central

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4 October 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2767050%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

Ehlers-Danlos syndrome

0 references

alternative mRNA splicing, via spliceosome

1 reference

based on heuristic

inferred from title

Ehlers-Danlos syndrome, arthrochalasis type

1 reference

based on heuristic

inferred from title

author name string

D Weil

1

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4 October 2019

M D'Alessio

2

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4 October 2019

F Ramirez

3

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4 October 2019

W de Wet

4

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4 October 2019

W G Cole

5

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4 October 2019

D Chan

6

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4 October 2019

J F Bateman

7

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4 October 2019

language of work or name

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publication date

1 June 1989

1 reference

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4 October 2019

The EMBO Journal

1 reference

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4 October 2019

8

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4 October 2019

6

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4 October 2019

1705-1710

1 reference

Europe PubMed Central

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4 October 2019

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

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=401012

21 June 2018

Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

N-Terminal Amino Acid Sequences of the Polyoma Middle-Size T Antigen Are Important for Protein Kinase Activity and Cell Transformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Efficient infection of monkey cells with DNA of simian virus 40

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

SV40-transformed simian cells support the replication of early SV40 mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

A mechanism for RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Cross-linking in collagen and elastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Production of Procollagen by Human Fibroblasts in Culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Use of R-loop mapping for the assessment of human collagen mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

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=401012

21 June 2018

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Genetic disorders of collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Dideoxy sequencing method using denatured plasmid templates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Splicing mutation in human hereditary analbuminemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

The collagens: an overview and update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

Splicing of messenger RNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

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=401012

21 June 2018

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame 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=401012

21 June 2018

Organization of the human pro-alpha 2(I) collagen gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

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=401012

21 June 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=401012

21 June 2018

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/2767050

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/2767050

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for exon sequences and splice-site proximity in splice-site selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/2767050

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2767050

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/J.1460-2075.1989.TB03562.X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2767050%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2767050%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2767050%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

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