Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping (Q37218067)

19 August 2017

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping (English)

1 reference

19 August 2017

Timothy W Hefferon

1

1 reference

19 August 2017

Fiona C Broackes-Carter

series ordinal

2

1 reference

19 August 2017

Ann Harris

series ordinal

3

1 reference

19 August 2017

Garry R Cutting

series ordinal

4

1 reference

19 August 2017

language of work or name

English

0 references

publication date

13 June 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

71

1 reference

19 August 2017

2

1 reference

19 August 2017

294-303

1 reference

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Alternative splicing: increasing diversity in the proteomic world

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Donor site competition is involved in the regulation of alternative splicing of the rat beta-tropomyosin pre-mRNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Information analysis of human splice site mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Cooperation of 5' and 3' processing sites as well as intron and exon sequences in calcitonin exon recognition

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Exon recognition in vertebrate splicing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

CFTR gene variant for patients with congenital absence of vas deferens

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379162

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

3 September 2018

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels

1 reference

12 December 2020

U1 snRNP targets an essential splicing factor, U2AF65, to the 3' splice site by a network of interactions spanning the exon

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Multiple splicing signals control alternative intron retention of bovine growth hormone pre-mRNA

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

1 reference

12 December 2020

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells

1 reference

12 December 2020

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

1 reference

12 December 2020

Splice-Site Mutations in Atherosclerosis Candidate Genes

1 reference

12 December 2020

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

1 reference

12 December 2020

Lung disease associated with the IVS8 5T allele of the CFTR gene

1 reference

12 December 2020

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/341664

1 reference

release_ayz5jh62a5b23d6rmqqjemdmvu

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ayz5jh62a5b23d6rmqqjemdmvu

24 November 2022

mapped directly with Wikidata item

1 reference

19 August 2017

1 reference