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Splicing in action: assessing disease causing sequence changes

Splicing in action: assessing disease causing sequence changes

http://www.wikidata.org/entity/Q24674554

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Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites Germline BAP1 mutations predispose to malignant mesothelioma General and specific functions of exonic splicing silencers in splicing control Programmed Cell Death-1 Polymorphisms Decrease the Cancer Risk: A Meta-Analysis Involving Twelve Case-Control Studies ICAM-1 molecular mechanism and genome wide SNP's association studies U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.Targeted genome-wide enrichment of functional regions Gene inactivation and its implications for annotation in the era of personal genomics A systematic survey of loss-of-function variants in human protein-coding genes Investigation 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 population Exonic splicing signals impose constraints upon the evolution of enzymatic activity.Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing Annual Research Review: Developmental considerations of gene by environment interactions.Analysis of CTNS gene transcripts in nephropathic cystinosis Splice 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 syndrome ICOS gene polymorphisms are associated with sporadic breast cancer: a case-control study Identification 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 leukemia PMD 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 China NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders WISP1 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 keratoconus Investigation of the monocyte diapedesis-related LFA-1 and JAM-A gene variants in Turkish coronary heart disease patients Wrinkled1, 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.

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P2860

Splicing in action: assessing disease causing sequence changes

http://www.wikidata.org/entity/Q24674554

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2005 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

Mfold web server for nucleic acid folding and hybridization prediction

Regulation of alternative splicing by the ATP-dependent DEAD-box RNA helicase p72.

Sorting out the complexity of SR protein functions

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

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Pfold: RNA secondary structure prediction using stochastic context-free grammars

Complex splicing pattern generates great diversity in human NF1 transcripts

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

The U1 snRNP protein U1C recognizes the 5' splice site in the absence of base pairing.

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