Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

No abstract is available for this paper.

• Publication year

  2002

• Venue

  American Journal of Human Genetics

• Publication date

  2002-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/341664PMID 12068373PMCID PMC379162
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cystic Fibrosis

  2009cited by this paper
• Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human.

  2002influential reference
• Alternative splicing: increasing diversity in the proteomic world.

  2001cited by this paper
• Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

  2001cited by this paper
• Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator ofCFTR Exon 9*

  2001cited by this paper
• 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

  2001cited by this paper
• Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

  2001cited by this paper
• Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator of CFTR Exon 9*

  2001cited by this paper
• Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology.

  2000cited by this paper
• Lung disease associated with the IVS8 5T allele of the CFTR gene.

  2000cited by this paper
• Protein Diversity from Alternative Minireview Splicing: A Challenge for Bioinformatics and Post-Genome Biology

  2000cited by this paper
• Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.

  2000cited by this paper
• Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element*

  2000cited by this paper
• Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

  1999cited by this paper
• Reported in vivo splice‐site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

  1999cited by this paper
• Splice-site mutations in atherosclerosis candidate genes: relating individual information to phenotype.

  1999cited by this paper
• 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?

  1999cited by this paper
• Donor site competition is involved in the regulation of alternative splicing of the rat beta-tropomyosin pre-mRNA.

  1999cited by this paper
• 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.

  1998cited by this paper
• Information analysis of human splice site mutations

  1998influential reference
• Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells.

  1997cited by this paper
• Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

  1997cited by this paper
• Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

  1995cited by this paper
• The cystic fibrosis transmembrane conductance regulator gene.

  1995influential reference
• Cooperation of 5' and 3' processing sites as well as intron and exon sequences in calcitonin exon recognition.

  1995cited by this paper
• Multiple Splicing Signals Control Alternative Intron Retention of Bovine Growth Hormone Pre-mRNA (*)

  1995cited by this paper
• Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene.

  1995cited by this paper
• Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

  1995cited by this paper
• CFTR gene variant for patients with congenital absence of vas deferens.

  1995influential reference
• Exon Recognition in Vertebrate Splicing (*)

  1995cited by this paper
• Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

  1993cited by this paper
• 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.

  1993cited by this paper
• A mutation in CFTR produces different phenotypes depending on chromosomal background

  1993cited by this paper
• Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels

  1993cited by this paper
• 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 manifestations of cystic fibrosis.

  1992cited by this paper
• U1 snRNP targets an essential splicing factor, U2AF65, to the 3' splice site by a network of interactions spanning the exon.

  1992cited by this paper
• Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.

  1991cited by this paper
• RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.

  1987influential reference

• All exons are not created equal—exon vulnerability determines the effect of exonic mutations on splicing

  2023cites this paper
• Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

  2021influential citation
• Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome

  2021cites this paper
• Cystic fibrosis from genotype to phenotype: review article

  2020cites this paper
• Benchmarking deep learning splice prediction tools using functional splice assays

  2020cites this paper
• First custom next-generation sequencing infertility panel in Latin America: design and first results

  2020cites this paper
• In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

  2020cites this paper
• CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies

  2018cites this paper
• CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study.

  2017cites this paper
• Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter).

  2016cites this paper
• Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

  2014cites this paper
• Multiples conséquences physiopathologiques de mutations et d'allèles complexes du gène CFTR : l'importance des études génétique, moléculaire, cellulaire & in silico dans la détermination de l'impact de ces variations sur l'épissage et la protéine

  2014cites this paper
• Molecular Screening of the CFTR Gene in Mexican Patients with Congenital Absence of the Vas Deferens

  2012cites this paper
• Genetics and Pathophysiology of Cystic Fibrosis

  2012cites this paper
• Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*

  2012cites this paper
• Recommendations for the classification of diseases as CFTR-related disorders.

  2011cites this paper
• Approaches to study CFTR pre-mRNA splicing defects.

  2011cites this paper
• A Genética na Fibrose Cística

  2011cites this paper
• Identificação de variações de sequência no gene CFTR em pacientes com fibrose cística

  2010cites this paper
• Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome

  2010cites this paper
• Novel cause of hereditary obstructive azoospermia: a T2 allele in the CFTR gene.

  2009cites this paper
• Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome)

  2009cites this paper
• Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

  2009cites this paper
• Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABAA Receptor GABRA1 PTC Mutation, 975delC, S326fs328X

  2009cites this paper
• Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay

  2008cites this paper
• Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members

  2008cites this paper
• SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer

  2007cites this paper
• Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens

  2007cites this paper
• ADAM15 gene structure and differential alternative exon use in human tissues

  2007cites this paper
• Splicing modulation as a modifier of the CFTR function.

  2006cites this paper
• Chapter 58 – Genetics and Pathophysiology of Cystic Fibrosis

  2006cites this paper
• Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect

  2006cites this paper
• Entwicklung von DNA- und Expressions-Markern zum Nachweis von menschlichen künstlichen Chromosomen und in vivo Transfektionsanalyse verbesserter HAC Vektoren

  2005cites this paper
• A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)

  2005cites this paper
• Molecular pathology of the CFTR locus in male infertility.

  2005cites this paper
• Germline mutations and polymorphisms in the NFKBIA gene in Hodgkin lymphoma

  2005cites this paper
• Cystic fibrosis in Estonia

  2004cites this paper
• Quantitative methods for the analysis of CFTR transcripts/splicing variants.

  2004cites this paper
• Alternative splicing in disease and therapy

  2004cites this paper
• A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.

  2004cites this paper
• The role of common single‐nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles

  2004cites this paper
• The Phenotypic Consequences of CFTR Mutations

  2003cites this paper
• Alternative splicing of the ovine CFTR gene

  2003cites this paper
• A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.

  2003cites this paper