Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.
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Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingMissense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicingThe RNA-binding protein SUP-12 controls muscle-specific splicing of the ADF/cofilin pre-mRNA in C. elegansSpontaneous rescue from cystic fibrosis in a mouse model.Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceVariation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignAssociation of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.The phenotypic consequences of CFTR mutations.Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.Intron-mediated alternative splicing of Arabidopsis P5CS1 and its association with natural variation in proline and climate adaptation.Association of CFTR gene mutation with bronchial asthma.Alternative pre-mRNA splicing in the human system: unexpected role of repetitive sequences as regulatory elements.Assessing the Disease-Liability of Mutations in CFTRA variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicingWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43).Exon identity crisis: disease-causing mutations that disrupt the splicing code.SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer.Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His.Splicing of constitutive upstream introns is essential for the recognition of intra-exonic suboptimal splice sites in the thrombopoietin geneAssociation of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.CFTR expression from a BAC carrying the complete human gene and associated regulatory elements.An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment.The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene.Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression.Association of genetic variants in CFTR gene, IVS8 c.1210-12T[5_9] and c.1210-35_1210-12GT[8_12], with spermatogenetic failure: case-control study and meta-analysis.Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.TDP43 depletion rescues aberrant CFTR exon 9 skipping.Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection systemFrom Bedside to Bench: How to Analyze a Splicing MutationSplicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element
P2860
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P2860
Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Functional analysis of cis-act ...... splicing of human CFTR exon 9.
@en
Functional analysis of cis-act ...... splicing of human CFTR exon 9.
@nl
type
label
Functional analysis of cis-act ...... splicing of human CFTR exon 9.
@en
Functional analysis of cis-act ...... splicing of human CFTR exon 9.
@nl
prefLabel
Functional analysis of cis-act ...... splicing of human CFTR exon 9.
@en
Functional analysis of cis-act ...... splicing of human CFTR exon 9.
@nl
P2093
P2860
P356
P1476
Functional analysis of cis-act ...... splicing of human CFTR exon 9.
@en
P2093
P2860
P304
P356
10.1093/HMG/8.13.2339
P577
1999-12-01T00:00:00Z