Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element
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Alternative splicing of intron 3 of the serine/arginine-rich protein 9G8 gene. Identification of flanking exonic splicing enhancers and involvement of 9G8 as a trans-acting factorMissense 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. elegansSerine/arginine-rich protein-dependent suppression of exon skipping by exonic splicing enhancers.Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.CFTR mutations and polymorphisms in male infertility.Hu antigen R (HuR) is a positive regulator of the RNA-binding proteins TDP-43 and FUS/TLS: implications for amyotrophic lateral sclerosis.Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.The phenotypic consequences of CFTR mutations.The bromodomain-containing gene BRD2 is regulated at transcription, splicing, and translation levels.N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing.Genomic variants in exons and introns: identifying the splicing spoilers.Intron-mediated alternative splicing of Arabidopsis P5CS1 and its association with natural variation in proline and climate adaptation.Beyond junk-variable tandem repeats as facilitators of rapid evolution of regulatory and coding sequencesEvolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43).Genomics of alternative splicing: evolution, development and pathophysiology.Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.Association 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.Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.Fine tuning of rabbit equilibrative nucleoside transporter activity by an alternatively spliced variant.Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.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.Short linear motif acquisition, exon formation and alternative splicing determine a pathway to diversity for NCoR-family co-repressors.Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.A polymorphic GT repeat from the human cardiac Na+Ca2+ exchanger intron 2 activates splicing.Functional characterisation of an intron retaining K(+) transporter of barley reveals intron-mediated alternate splicing.Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.TDP43 depletion rescues aberrant CFTR exon 9 skipping.Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.Low U1 snRNP dependence at the NF1 exon 29 donor splice site.Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences
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Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element
description
article publié dans la revue scientifique Journal of Biological Chemistry
@fr
im Juli 2000 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published in Journal of Biological Chemistry
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2000
@uk
name
Splicing Factors Induce Cystic ...... ary Conserved Intronic Element
@en
Splicing Factors Induce Cystic ...... ary Conserved Intronic Element
@nl
type
label
Splicing Factors Induce Cystic ...... ary Conserved Intronic Element
@en
Splicing Factors Induce Cystic ...... ary Conserved Intronic Element
@nl
prefLabel
Splicing Factors Induce Cystic ...... ary Conserved Intronic Element
@en
Splicing Factors Induce Cystic ...... ary Conserved Intronic Element
@nl
P2093
P2860
P50
P356
P1476
Splicing factors induce cystic ...... ary conserved intronic element
@en
P2093
P2860
P304
21041-21047
P356
10.1074/JBC.M910165199
P407
P577
2000-07-01T00:00:00Z