Exon identity crisis: disease-causing mutations that disrupt the splicing code.
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The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutationsDefective control of pre-messenger RNA splicing in human diseaseRole of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations.SNPlice: variants that modulate Intron retention from RNA-sequencing data.Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsNatural variation of gene models in Drosophila melanogaster.Role of six single nucleotide polymorphisms, risk factors in coronary disease, in OLR1 alternative splicingGlobal identification of hnRNP A1 binding sites for SSO-based splicing modulation.Recognizing the 35th anniversary of the proposal that snRNPs are involved in splicing.The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteinsSplice-switching antisense oligonucleotides as therapeutic drugsTranslational development of splice-modifying antisense oligomers.Deep intronic mutations and human disease.Uncoupling of mucosal gene regulation, mRNA splicing and adherent microbiota signatures in inflammatory bowel disease.Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.Detection of recurrent alternative splicing switches in tumor samples reveals novel signatures of cancerSplicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.The role of alternative splicing in cancer.RNA splicing. The human splicing code reveals new insights into the genetic determinants of diseaseThe RBPome: where the brains meet the brawn.'Oming in on RNA-protein interactions.From mechanisms to therapy: RNA processing's impact on human genetics.Exploiting differential RNA splicing patterns: a potential new group of therapeutic targets in cancer.The potential of antisense oligonucleotide therapies for inherited childhood lung diseases.Mechanical Stress and Single Nucleotide Variants Regulate Alternative Splicing of the MYLK Gene.Alternative mRNA Splicing in the Pathogenesis of Obesity.Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome.Splicing heterogeneity: separating signal from noise.Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesisExonic splice regulation imposes strong selection at synonymous sites
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Exon identity crisis: disease-causing mutations that disrupt the splicing code.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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Exon identity crisis: disease-causing mutations that disrupt the splicing code.
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label
Exon identity crisis: disease-causing mutations that disrupt the splicing code.
@en
prefLabel
Exon identity crisis: disease-causing mutations that disrupt the splicing code.
@en
P2860
P356
P1433
P1476
Exon identity crisis: disease-causing mutations that disrupt the splicing code.
@en
P2093
Jeremy R Sanford
Timothy Sterne-Weiler
P2860
P2888
P356
10.1186/GB4150
P577
2014-01-23T00:00:00Z
P5875
P6179
1008413383