NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.
about
Functional analysis of splicing mutations in exon 7 of NF1 geneNOD2-C2 - a novel NOD2 isoform activating NF-kappaB in a muramyl dipeptide-independent manner.The intronic splicing code: multiple factors involved in ATM pseudoexon definition.Genomic features defining exonic variants that modulate splicing.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.The pathoetiology of neurofibromatosis 1Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsFunctional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating SplicingExonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNADefective splicing, disease and therapy: searching for master checkpoints in exon definition.Downstream intronic splicing enhancers.Missed threads. The impact of pre-mRNA splicing defects on clinical practice.From single splicing events to thousands: the ambiguous step forward in splicing research.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathwaysExperimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.Widespread intra-dependencies in the removal of introns from human transcripts.NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndromeComplexities of 5'splice site definition: Implications in clinical analysesSplicing and Disease
P2860
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P2860
NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
NF1 mRNA biogenesis: effect of ...... ion of the NF1 exon 37 region.
@en
NF1 mRNA biogenesis: effect of ...... ion of the NF1 exon 37 region.
@nl
type
label
NF1 mRNA biogenesis: effect of ...... ion of the NF1 exon 37 region.
@en
NF1 mRNA biogenesis: effect of ...... ion of the NF1 exon 37 region.
@nl
prefLabel
NF1 mRNA biogenesis: effect of ...... ion of the NF1 exon 37 region.
@en
NF1 mRNA biogenesis: effect of ...... ion of the NF1 exon 37 region.
@nl
P2093
P2860
P1433
P1476
NF1 mRNA biogenesis: effect of ...... tion of the NF1 exon 37 region
@en
P2093
Anna Knezevich
Diana Baralle
Francisco E Baralle
Laura De Conti
Madhuri Bhuvanagiri
Marco Baralle
Natasa Skoko
P2860
P304
P356
10.1016/J.FEBSLET.2006.07.018
P407
P577
2006-07-14T00:00:00Z