ESEfinder: A web resource to identify exonic splicing enhancers - Test2 - elhamkhani - TriplyDB

ESEfinder: A web resource to identify exonic splicing enhancers

ESEfinder: A web resource to identify exonic splicing enhancers

http://www.wikidata.org/entity/Q29616126

about

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth AVISPA: a web tool for the prediction and analysis of alternative splicing RNA-editing-mediated exon evolution Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change Analysis of four DLX homeobox genes in autistic probands Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma Cancer-associated splicing variant of tumor suppressor AIMP2/p38: pathological implication in tumorigenesis Medical sequencing of candidate genes for nonsyndromic cleft lip and palate Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants Dissection of epistasis in oligogenic Bardet-Biedl syndrome VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families Variants in ASB10 are associated with open-angle glaucoma SON controls cell-cycle progression by coordinated regulation of RNA splicing MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 Functional consequences of PRODH missense mutations SpliceInfo: an information repository for mRNA alternative splicing in human genome A bidirectional SF2/ASF- and SRp40-dependent splicing enhancer regulates human immunodeficiency virus type 1 rev, env, vpu, and nef gene expression A long nuclear-retained non-coding RNA regulates synaptogenesis by modulating gene expression A novel role for shuttling SR proteins in mRNA translation RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Linkage and association analysis of CACNG3 in childhood absence epilepsy Advances in translational bioinformatics: computational approaches for the hunting of disease genes Splicing regulation: from a parts list of regulatory elements to an integrated splicing code Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy NTNG1 mutations are a rare cause of Rett syndrome A positive modifier of spinal muscular atrophy in the SMN2 gene Six new loci associated with body mass index highlight a neuronal influence on body weight regulation Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency Splicing in action: assessing disease causing sequence changes Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications A combinatorial code for splicing silencing: UAGG and GGGG motifs DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes The splicing regulatory element, UGCAUG, is phylogenetically and spatially conserved in introns that flank tissue-specific alternative exons Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.

P2860

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P2860

ESEfinder: A web resource to identify exonic splicing enhancers

http://www.wikidata.org/entity/Q29616126

description

2003 nî lūn-bûn

@nan

2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

ESEfinder: A web resource to identify exonic splicing enhancers

@ast

ESEfinder: A web resource to identify exonic splicing enhancers

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type

label

ESEfinder: A web resource to identify exonic splicing enhancers

@ast

ESEfinder: A web resource to identify exonic splicing enhancers

@en

prefLabel

ESEfinder: A web resource to identify exonic splicing enhancers

@ast

ESEfinder: A web resource to identify exonic splicing enhancers

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Nucleic Acids Research

P1476

ESEfinder: A web resource to identify exonic splicing enhancers

@en

P2093

Cartegni L

http://www.w3.org/2001/XMLSchema#string

Wang J

http://www.w3.org/2001/XMLSchema#string

Zhang MQ

http://www.w3.org/2001/XMLSchema#string

Zhu Z

http://www.w3.org/2001/XMLSchema#string

P2860

Sorting out the complexity of SR protein functions

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

Finding signals that regulate alternative splicing in the post-genomic era

Systematic evolution of ligands by exponential enrichment: RNA ligands to bacteriophage T4 DNA polymerase

Two proteins essential for apolipoprotein B mRNA editing are expressed from a single gene through alternative splicing

Listening to silence and understanding nonsense: exonic mutations that affect splicing

Alternative pre-mRNA splicing and proteome expansion in metazoans

Predictive identification of exonic splicing enhancers in human genes

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

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3568-71

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scholarly article

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629134

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10.1093/NAR/GKG616

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13

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31

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Adrian Robert Krainer

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2003-07-01T00:00:00Z

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10693466

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12824367

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169022

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