Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
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Exon first nucleotide mutations in splicing: evaluation of in silico prediction toolsDBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sitesTargeted genome-wide enrichment of functional regionsConserved and species-specific alternative splicing in mammalian genomes.Computational analysis of splicing errors and mutations in human transcripts.Genome-wide survey of allele-specific splicing in humans.Dual effect of a single nucleotide polymorphism in the first intron of the porcine secreted phosphoprotein 1 gene: allele-specific binding of C/EBP beta and activation of aberrant splicing.A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elementsA comprehensive survey of human polymorphisms at conserved splice dinucleotides and its evolutionary relationship with alternative splicing.Some novel intron positions in conserved Drosophila genes are caused by intron sliding or tandem duplication.Prediction and assessment of splicing alterations: implications for clinical testing.A birth of bipartite exon by intragenic deletionGenome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database.Quantitative analysis of cryptic splicing associated with TDP-43 depletion.Genomic features defining exonic variants that modulate splicing.Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated regionNorepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon.Majority vote and other problems when using computational tools.Characterization of NOL7 gene point mutations, promoter methylation, and protein expression in cervical cancer.SpliceDisease database: linking RNA splicing and diseaseRe-splicing of mature mRNA in cancer cells promotes activation of distant weak alternative splice sites.Direct competition between hnRNP C and U2AF65 protects the transcriptome from the exonization of Alu elementsEvolution of the human gastrokine locus and confounding factors regarding the pseudogenicity of GKN3Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.Cancer-associated SF3B1 mutants recognize otherwise inaccessible cryptic 3' splice sites within RNA secondary structures.Compensatory signals associated with the activation of human GC 5' splice sitesIdentification of U2AF(35)-dependent exons by RNA-Seq reveals a link between 3' splice-site organization and activity of U2AF-related proteins.Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.The thermodynamic patterns of eukaryotic genes suggest a mechanism for intron-exon recognition.CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes.Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
P2860
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P2860
Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
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name
Aberrant 3' splice sites in hu ...... hat predict their utilization.
@en
Aberrant 3' splice sites in hu ...... hat predict their utilization.
@nl
type
label
Aberrant 3' splice sites in hu ...... hat predict their utilization.
@en
Aberrant 3' splice sites in hu ...... hat predict their utilization.
@nl
prefLabel
Aberrant 3' splice sites in hu ...... hat predict their utilization.
@en
Aberrant 3' splice sites in hu ...... hat predict their utilization.
@nl
P2860
P356
P1476
Aberrant 3' splice sites in hu ...... hat predict their utilization.
@en
P2093
Igor Vorechovský
P2860
P304
P356
10.1093/NAR/GKL535
P407
P577
2006-09-08T00:00:00Z