A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.
about
The molecular genetics of Marfan syndrome and related disordersChimeric peptide nucleic acid compounds modulate splicing of the bcl-x gene in vitro and in vivo.Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.Nonsense-mediated mRNA decay in humans at a glanceDisruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec familyCauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndromeESEfinder: A web resource to identify exonic splicing enhancersGene variants in noncoding regions and their possible consequences.Frame-disrupting mutations elicit pre-mRNA accumulation independently of frame disruptionExonic splicing enhancers in fission yeast: functional conservation demonstrates an early evolutionary origin.Nuclear translation: what is the evidence?Premature termination codons do not affect the rate of splicing of neighboring introns.Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frameNonsense-associated alternative splicing of T-cell receptor beta genes: no evidence for frame dependenceIdentification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficienciesFibrillin-1, induced by Aurora-A but inhibited by BRCA2, promotes ovarian cancer metastasisQualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPsDelineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exonStop codon-mediated suppression of splicing is a novel nuclear scanning mechanism not affected by elements of protein synthesis and NMD.Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.Nonsense codons trigger an RNA partitioning shift.mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay.Upf proteins: highly conserved factors involved in nonsense mRNA mediated decay.Point mutations regarded as missense mutations cause splicing defects in the factor XI gene.Low U1 snRNP dependence at the NF1 exon 29 donor splice site.Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame.Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.CRISPR-induced exon skipping is dependent on premature termination codon mutations
P2860
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P2860
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.
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
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2002年论文
@zh-cn
name
A nonsense mutation in the fib ...... s an exonic splicing enhancer.
@ast
A nonsense mutation in the fib ...... s an exonic splicing enhancer.
@en
type
label
A nonsense mutation in the fib ...... s an exonic splicing enhancer.
@ast
A nonsense mutation in the fib ...... s an exonic splicing enhancer.
@en
prefLabel
A nonsense mutation in the fib ...... s an exonic splicing enhancer.
@ast
A nonsense mutation in the fib ...... s an exonic splicing enhancer.
@en
P2093
P2860
P356
P1433
P1476
A nonsense mutation in the fib ...... s an exonic splicing enhancer.
@en
P2093
Karen L Beemon
Massimo Caputi
Raymond J Kendzior
P2860
P304
P356
10.1101/GAD.997502
P577
2002-07-01T00:00:00Z