Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
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Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.Functional analysis of splicing mutations in exon 7 of NF1 geneEffect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Prediction and assessment of splicing alterations: implications for clinical testing.Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicingGenomic features defining exonic variants that modulate splicing.NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficienciesInterplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.Loss of exon identity is a common mechanism of human inherited disease.Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating SplicingFine-mapping reveals novel alternative splicing of the dopamine transporter.A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease.Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutationsClassifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsFrom single splicing events to thousands: the ambiguous step forward in splicing research.SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.A rapid and effective method for screening, sequencing and reporter verification of engineered frameshift mutations in zebrafish.Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.Low U1 snRNP dependence at the NF1 exon 29 donor splice site.Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes
P2860
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P2860
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
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2004年學術文章
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name
Disruption of exonic splicing ...... se or missense alleles of NF1.
@en
Disruption of exonic splicing ...... se or missense alleles of NF1.
@nl
type
label
Disruption of exonic splicing ...... se or missense alleles of NF1.
@en
Disruption of exonic splicing ...... se or missense alleles of NF1.
@nl
prefLabel
Disruption of exonic splicing ...... se or missense alleles of NF1.
@en
Disruption of exonic splicing ...... se or missense alleles of NF1.
@nl
P2093
P2860
P356
P1433
P1476
Disruption of exonic splicing ...... se or missense alleles of NF1.
@en
P2093
Andrea Zatkova
Christa Fonatsch
Ina Vandenbroucke
Katharina Wimmer
Ludwine Messiaen
P2860
P304
P356
10.1002/HUMU.20103
P577
2004-12-01T00:00:00Z