Research Research groups Member of: Institute for Life Sciences Human Genetics and Genomic Medicine Research projects Completed projects I Vorechovsky 1-2006-263 Researchers: Sponsor: Juvenile Diabetes Foundation (USA) Vorechovsky QLG2-CT-1999-00786 Researchers: Sponsor: European Union I Vorechovsky 1-2008-47 Researchers: Sponsor: Juvenile Diabetes Foundation (USA) Vorechovsky 12060 U2AF1as a theraprutic target of blood malignancies Researchers: Sponsor: Blood Cancer UK Dr I Vorechovsky Studentship - Molecular evolution of coupled transaction and splicing in regulating allele-specific proinsulin expression Researchers: Sponsor: Diabetes UK Strefford LLR 12036 Importance of SF3B1 mutations Researchers: Sponsor: Blood Cancer UK Publications 72 publications Page 5 of 8 Birth of new exons in LINE-2 and in antisense AluSq by intronic mutations in the PTS gene leading to tetrahydrobiopterin (BH4)-cofactor deficiency1 D. Meili, J. Kralovicova, L. Bonafe, L. Flori, N. Blau, I. Vorechovsky & B. Thony, 2008, Journal of Inherited Metabolic Disease, 31(supp.1- 336-P), p.85 DOI: 10.1007/s10545-008-9975-0 Type: article Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition Jana Kralovicova & Igor Vorechovsky, 2007, Nucleic Acids Research, 35(19), 6399-6413 DOI: 10.1093/nar/gkm680 Type: article Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization E. Buratti, M. Chivers, J. Kralovicova, M. Romano, M. Baralle, A.R. Krainer & I. Vorechovsky, 2007, Nucleic Acids Research, 35(13), 4250-4263 DOI: 10.1093/nar/gkm402 Type: article Comment on: Marchand and Polychronakos (2007) Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes: Diabetes 56:709-713 Santiago Rodriguez, Tom R. Gaunt, Igor Vorechovsky, Jana Kralovicova, Peter J. Wood & Ian N.M. Day, 2007, Diabetes, 56(9), e16-[p.1] DOI: 10.2337/db07-0805 Type: article Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization Igor Vorechovsky, 2006, Nucleic Acids Research, 34(16), 4630-4641 DOI: 10.1093/nar/gkl535 Type: article Questioning INS VNTR role in obesity and diabetes: subclasses tag IGF2-INS-TH haplotypes; and -23HphI as a STEP (splicing and translational efficiency polymorphism) Ian N.M. Day, Santiago Rodriguez, Jana Kralovicova, Peter J. Wood, Igor Vorechovsky & Tom R. Gaunt, 2006, Physiological Genomics, 28(1), p.113 DOI: 10.1152/physiolgenomics.00126.2006 Type: article Phenotypic consequences of branch point substitutions Jana Královiová, Haixin Lei & Igor Voechovský, 2006, Human Mutation, 27(8), 803-813 DOI: 10.1002/humu.20362 Type: article Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs Jana Kralovicova & Igor Vorechovsky, 2006, Journal of Immunology, 176(4), 2381-2388 Type: article Variants in the Human Insulin Gene That Affect Pre-mRNA Splicing: Is -23HphI a Functional Single Nucleotide Polymorphism at IDDM2? Jana Kralovicova, Tom R. Gaunt, Santiago Rodriguez, Peter J. Wood, Ian N.M. Day & Igor Vorechovsky, 2006, Diabetes, 55(1), 260-264 DOI: 10.2337/diabetes.55.01.06.db05-0773 Type: article Biased exon/intron distribution of cryptic and de novo 3' splice sites Jana Královičová, Mikkel B. Christensen & Igor Vořechovský, 2005, Nucleic Acids Research, 33(15), 4882-4898 DOI: 10.1093/nar/gki811 Type: article Pagination Previous page Previous … 3 4 5 6 7 … Next page Next