Listening to silence and understanding nonsense: exonic mutations that affect splicing
about
Single nucleotide polymorphism-based validation of exonic splicing enhancersExon first nucleotide mutations in splicing: evaluation of in silico prediction toolsA patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case reportErythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic catsGenetic and biochemical studies in Argentinean patients with variegate porphyriaAnalysis of four DLX homeobox genes in autistic probandsFrom genes to behavior: placing cognitive models in the context of biological pathwaysA unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptorCollagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathiaVariants in ASB10 are associated with open-angle glaucomaSON controls cell-cycle progression by coordinated regulation of RNA splicingMutations in the testis-specific NALP14 gene in men suffering from spermatogenic failureThe splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophyMicrocephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiationIdentification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaObscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-lineMutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancerSplicing factor SRSF6 promotes hyperplasia of sensitized skinCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qFunctional consequences of PRODH missense mutationsSynonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing.Differential expression, localization and activity of two alternatively spliced isoforms of human APC regulator CDH1HOLLYWOOD: a comparative relational database of alternative splicing.Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.SpliceInfo: an information repository for mRNA alternative splicing in human genomeEvidence that RNA editing modulates splice site selection in the 5-HT2C receptor geneTissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma geneSplicing regulation: from a parts list of regulatory elements to an integrated splicing codeEthnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastInfluence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processingBorate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophyGlobal analysis of alternative splicing differences between humans and chimpanzeesSRp54 (SFRS11), a regulator for tau exon 10 alternative splicing identified by an expression cloning strategyIdentification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationSplicing in action: assessing disease causing sequence changesThe novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporterComplete sequencing shows a role for MSX1 in non-syndromic cleft lip and palateThe reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behaviorAntisense-mediated exon skipping: a versatile tool with therapeutic and research applications
P2860
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P2860
Listening to silence and understanding nonsense: exonic mutations that affect splicing
description
2002 nî lūn-bûn
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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
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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
name
Listening to silence and understanding nonsense: exonic mutations that affect splicing
@ast
Listening to silence and understanding nonsense: exonic mutations that affect splicing
@en
type
label
Listening to silence and understanding nonsense: exonic mutations that affect splicing
@ast
Listening to silence and understanding nonsense: exonic mutations that affect splicing
@en
prefLabel
Listening to silence and understanding nonsense: exonic mutations that affect splicing
@ast
Listening to silence and understanding nonsense: exonic mutations that affect splicing
@en
P2093
P3181
P356
P1476
Listening to silence and understanding nonsense: exonic mutations that affect splicing
@en
P2093
P2888
P304
P3181
P356
10.1038/NRG775
P407
P577
2002-04-01T00:00:00Z
P5875
P6179
1011644042