about
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.Splicing regulation: from a parts list of regulatory elements to an integrated splicing codeSplicing in action: assessing disease causing sequence changesDepletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.Functional studies on the ATM intronic splicing processing elementThe dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutationsBioinformatic analyses to select phenotype affecting polymorphisms in HTR2C gene.Genome-wide detection of tissue-specific alternative splicing in the human transcriptomeThe intronic splicing code: multiple factors involved in ATM pseudoexon definition.Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.A birth of bipartite exon by intragenic deletionInteraction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicingSpliceAid 2: a database of human splicing factors expression data and RNA target motifs.A model in vitro system for co-transcriptional splicingSubdivision of large introns in Drosophila by recursive splicing at nonexonic elementsG Run-mediated recognition of proteolipid protein and DM20 5' splice sites by U1 small nuclear RNA is regulated by context and proximity to the splice site.Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.The polymorphic AluYb8 insertion in the MUTYH gene is associated with reduced type 1 protein expression and reduced mitochondrial DNA contentGene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.Genomic variants in exons and introns: identifying the splicing spoilers.Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseasesFunctional single nucleotide polymorphism-based association studies.Defective splicing, disease and therapy: searching for master checkpoints in exon definition.Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism.hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeRegulation of mammalian pre-mRNA splicing.Lessons from non-canonical splicingA Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.Alternative splicing: good and bad effects of translationally silent substitutions.RNA splicing: a new player in the DNA damage responseRole of pseudoexons and pseudointrons in human cancer.A day in the life of the spliceosomeRegulation of gene expression through production of unstable mRNA isoforms.Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.Diverse roles of hnRNP L in mammalian mRNA processing: a combined microarray and RNAi analysis.Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
A new type of mutation causes a splicing defect in ATM.
@en
type
label
A new type of mutation causes a splicing defect in ATM.
@en
prefLabel
A new type of mutation causes a splicing defect in ATM.
@en
P2093
P50
P356
P1433
P1476
A new type of mutation causes a splicing defect in ATM.
@en
P2093
Francisco E Baralle
Franco Pagani
Regina Bendix
P2888
P304
P356
10.1038/NG858
P407
P577
2002-03-11T00:00:00Z
P5875
P6179
1047562460