Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.
about
DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sitesIn silico tools for splicing defect prediction: a survey from the viewpoint of end usersAntisense mediated splicing modulation for inherited metabolic diseases: challenges for deliveryA method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elementsAn ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouseCryptic splice sites and split genes.Identification of activated cryptic 5' splice sites using structure profiles and odds measure.Missing genetic risk in neural tube defects: can exome sequencing yield an insight?A novel splice-site mutation in angiotensin I-converting enzyme (ACE) gene, c.3691+1G>A (IVS25+1G>A), causes a dramatic increase in circulating ACE through deletion of the transmembrane anchorA splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel MutationsPITX2 and FOXC1 spectrum of mutations in ocular syndromesGenetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old InfantPNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons.Pick one, but be quick: 5' splice sites and the problems of too many choices.Compensatory signals associated with the activation of human GC 5' splice sitesMutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.Prediction of mutant mRNA splice isoforms by information theory-based exon definition.Rules and tools to predict the splicing effects of exonic and intronic mutations.Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assaySplicing and Disease
P2860
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P2860
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Ab initio prediction of mutati ...... activation and exon skipping.
@ast
Ab initio prediction of mutati ...... activation and exon skipping.
@en
Ab initio prediction of mutati ...... activation and exon skipping.
@nl
type
label
Ab initio prediction of mutati ...... activation and exon skipping.
@ast
Ab initio prediction of mutati ...... activation and exon skipping.
@en
Ab initio prediction of mutati ...... activation and exon skipping.
@nl
prefLabel
Ab initio prediction of mutati ...... activation and exon skipping.
@ast
Ab initio prediction of mutati ...... activation and exon skipping.
@en
Ab initio prediction of mutati ...... activation and exon skipping.
@nl
P2093
P2860
P356
P1476
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping
@en
P2093
Andrea Kvitkovicova
Igor Vorechovsky
Petr Divina
P2860
P2888
P304
P356
10.1038/EJHG.2008.257
P577
2009-01-14T00:00:00Z