Splicing in action: assessing disease causing sequence changes
about
Exon first nucleotide mutations in splicing: evaluation of in silico prediction toolsMolecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemiaDBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sitesGermline BAP1 mutations predispose to malignant mesotheliomaGeneral and specific functions of exonic splicing silencers in splicing controlProgrammed Cell Death-1 Polymorphisms Decrease the Cancer Risk: A Meta-Analysis Involving Twelve Case-Control StudiesICAM-1 molecular mechanism and genome wide SNP's association studiesU2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.Targeted genome-wide enrichment of functional regionsGene inactivation and its implications for annotation in the era of personal genomicsA systematic survey of loss-of-function variants in human protein-coding genesInvestigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.Glucose regulation of insulin gene transcription and pre-mRNA processing in human islets.New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.Using RNase sequence specificity to refine the identification of RNA-protein binding regions.B7-H4 gene polymorphisms are associated with sporadic breast cancer in a Chinese Han populationExonic splicing signals impose constraints upon the evolution of enzymatic activity.Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial HypertensionFifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicingAnnual Research Review: Developmental considerations of gene by environment interactions.Analysis of CTNS gene transcripts in nephropathic cystinosisSplice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndromeICOS gene polymorphisms are associated with sporadic breast cancer: a case-control studyIdentification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.Identification of activated cryptic 5' splice sites using structure profiles and odds measure.CD22 EXON 12 deletion as a pathogenic mechanism of human B-precursor leukemiaPMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.Association between the polymorphisms in intercellular adhesion molecule-1 and the risk of coronary atherosclerosis: a case-controlled study.Investigation of CD28 gene polymorphisms in patients with sporadic breast cancer in a Chinese Han population in Northeast ChinaNRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disordersWISP1 polymorphisms contribute to platinum-based chemotherapy toxicity in lung cancer patients.In silico prediction of splice-altering single nucleotide variants in the human genome.Repair of pre-mRNA splicing: prospects for a therapy for spinal muscular atrophy.Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconusInvestigation of the monocyte diapedesis-related LFA-1 and JAM-A gene variants in Turkish coronary heart disease patientsWrinkled1, a ubiquitous regulator in oil accumulating tissues from Arabidopsis embryos to oil palm mesocarp.Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.
P2860
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P2860
Splicing in action: assessing disease causing sequence changes
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Splicing in action: assessing disease causing sequence changes
@ast
Splicing in action: assessing disease causing sequence changes
@en
Splicing in action: assessing disease causing sequence changes
@nl
type
label
Splicing in action: assessing disease causing sequence changes
@ast
Splicing in action: assessing disease causing sequence changes
@en
Splicing in action: assessing disease causing sequence changes
@nl
prefLabel
Splicing in action: assessing disease causing sequence changes
@ast
Splicing in action: assessing disease causing sequence changes
@en
Splicing in action: assessing disease causing sequence changes
@nl
P2860
P3181
P356
P1476
Splicing in action: assessing disease causing sequence changes
@en
P2093
P2860
P304
P3181
P356
10.1136/JMG.2004.029538
P407
P577
2005-10-01T00:00:00Z