PubMed

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms.

Churbanov A, Vorechovský I, Hicks C.

BMC Genomics. 2009 Nov 4;10:508.PMID: 19889216 [PubMed - in process]Related articlesFree article

Transposable elements in disease-associated cryptic exons.

Vorechovsky I.

Hum Genet. 2009 Oct 10. [Epub ahead of print]PMID: 19823873 [PubMed - as supplied by publisher]Related articles

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N, Thöny B, Vorechovsky I.

Hum Mutat. 2009 May;30(5):823-31.PMID: 19280650 [PubMed - indexed for MEDLINE]Related articles

SERPING1 rs2511988 and age-related macular degeneration.

Kralovicova J, Vorechovsky I.

Lancet. 2009 Feb 7;373(9662):461-2. No abstract available. PMID: 19200915 [PubMed - indexed for MEDLINE]Related articles

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

Divina P, Kvitkovicova A, Buratti E, Vorechovsky I.

Eur J Hum Genet. 2009 Jun;17(6):759-65. Epub 2009 Jan 14.PMID: 19142208 [PubMed - indexed for MEDLINE]Related articles

Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.

Královicová J, Vorechovsky I.

Nucleic Acids Res. 2007;35(19):6399-413. Epub 2007 Sep 18.PMID: 17881373 [PubMed - indexed for MEDLINE]Related articlesFree 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.

Rodriguez S, Gaunt TR, Vorechovsky I, Kralovicová J, Wood PJ, Day IN.

Diabetes. 2007 Sep;56(9):e16; author reply e17. No abstract available. PMID: 17726135 [PubMed - indexed for MEDLINE]Related articlesFree article

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.PMID: 17576681 [PubMed - indexed for MEDLINE]Related articlesFree article

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Vorechovský I.

Nucleic Acids Res. 2006;34(16):4630-41. Epub 2006 Sep 8.PMID: 16963498 [PubMed - indexed for MEDLINE]Related articlesFree 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).

Day IN, Rodriguez S, Královicová J, Wood PJ, Vorechovsky I, Gaunt TR.

Physiol Genomics. 2006 Dec 13;28(1):113. Epub 2006 Aug 1. No abstract available. PMID: 16882885 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic consequences of branch point substitutions.

Královicová J, Lei H, Vorechovský I.

Hum Mutat. 2006 Aug;27(8):803-13.PMID: 16835862 [PubMed - indexed for MEDLINE]Related articles

Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs.

Královicová J, Vorechovsky I.

J Immunol. 2006 Feb 15;176(4):2381-8.PMID: 16455996 [PubMed - indexed for MEDLINE]Related articlesFree article

Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?

Královicová J, Gaunt TR, Rodriguez S, Wood PJ, Day IN, Vorechovsky I.

Diabetes. 2006 Jan;55(1):260-4.PMID: 16380501 [PubMed - indexed for MEDLINE]Related articlesFree article

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J, Christensen MB, Vorechovský I.

Nucleic Acids Res. 2005 Sep 1;33(15):4882-98. Print 2005.PMID: 16141195 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression.

Lei H, Vorechovsky I.

Mol Cell Biol. 2005 Aug;25(16):6912-20.PMID: 16055705 [PubMed - indexed for MEDLINE]Related articlesFree article

Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer.

Lei H, Day IN, Vorechovský I.

Nucleic Acids Res. 2005 Jul 14;33(12):3897-906. Print 2005.PMID: 16027113 [PubMed - indexed for MEDLINE]Related articlesFree article

Intergenic transcripts in genes with phase I introns.

Královicová J, Vorechovský I.

Genomics. 2005 Apr;85(4):431-40.PMID: 15780746 [PubMed - indexed for MEDLINE]Related articles

Branch site haplotypes that control alternative splicing.

Královicová J, Houngninou-Molango S, Krämer A, Vorechovsky I.

Hum Mol Genet. 2004 Dec 15;13(24):3189-202. Epub 2004 Oct 20.PMID: 15496424 [PubMed - indexed for MEDLINE]Related articlesFree article

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.

Tischkowitz MD, Morgan NV, Grimwade D, Eddy C, Ball S, Vorechovsky I, Langabeer S, Stöger R, Hodgson SV, Mathew CG.

Leukemia. 2004 Mar;18(3):420-5.PMID: 14749703 [PubMed - indexed for MEDLINE]Related articles

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency.

Kralovicova J, Hammarström L, Plebani A, Webster AD, Vorechovsky I.

J Immunol. 2003 Mar 1;170(5):2765-75.PMID: 12594308 [PubMed - indexed for MEDLINE]Related articlesFree article

BACH1 517C-->T transition impairs protein translocation to nucleus: a role in breast cancer susceptibility?

Lei H, Vorechovsky I.

Int J Cancer. 2003 Apr 10;104(3):389-91. No abstract available. PMID: 12569564 [PubMed - indexed for MEDLINE]Related articles

The HLA-DRA*0102 allele: correct nucleotide sequence and associated HLA haplotypes.

Kralovicova J, Marsh SG, Waller MJ, Hammarstrom L, Vorechovsky I.

Tissue Antigens. 2002 Sep;60(3):266-7.PMID: 12445311 [PubMed - indexed for MEDLINE]Related articles

Re: Dominant negative ATM mutations in breast cancer families.

Lei H, Pospisilova D, Lindblom A, Vorechovsky I.

J Natl Cancer Inst. 2002 Jun 19;94(12):951-2; author reply 952. No abstract available. PMID: 12072552 [PubMed - indexed for MEDLINE]Related articlesFree article

Lack of association of the -1171 (5A) allele of the MMP3 promoter with breast cancer.

Lei H, Zaloudik J, Vorechovsky I.

Clin Chem. 2002 May;48(5):798-9. No abstract available. PMID: 11978619 [PubMed - indexed for MEDLINE]Related articlesFree article

No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22.

Luo L, Lei H, Du Q, von Wachenfeldt A, Kockum I, Luthman H, Vorechovsky I, Lindblom A.

Int J Cancer. 2002 Apr 1;98(4):638-9. No abstract available. PMID: 11920628 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis of large genomic regions in tumor DNA using single-strand conformation polymorphism. Lessons from the ATM gene.

Vorechovsky I.

Methods Mol Med. 2002;68:115-24. No abstract available. PMID: 11901497 [PubMed - indexed for MEDLINE]Related articles

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus.

Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, Elomaa O, Moser M, de Cid R, Ripatti S, Vorechovsky I, Marcusson JA, Nakagawa H, Lazaro C, Estivill X, Capon F, Novelli G, Saarialho-Kere U, Barker J, Trembath R, Kere J; Psoriasis Consortium.

Hum Mol Genet. 2002 Mar 1;11(5):589-97.PMID: 11875053 [PubMed - indexed for MEDLINE]Related articlesFree article

CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk.

Lei H, Sjöberg-Margolin S, Salahshor S, Werelius B, Jandáková E, Hemminki K, Lindblom A, Vorechovský I.

Int J Cancer. 2002 Mar 10;98(2):199-204.PMID: 11857408 [PubMed - indexed for MEDLINE]Related articles

Mapping genes underlying complex disorders: progress on IgA deficiency and common variable immunodeficiency.

Vorechovsky I, Webster AD, Hammarstrom L.

Adv Exp Med Biol. 2001;495:183-90. Review. No abstract available. PMID: 11774565 [PubMed - indexed for MEDLINE]Related articles

Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

Vorechovsky I, Kralovicova J, Tchilian E, Masterman T, Zhang Z, Ferry B, Misbah S, Chapel H, Webster D, Hellgren D, Anvret M, Hillert J, Hammarstrom L, Beverley PC.

Nat Genet. 2001 Sep;29(1):22-3.PMID: 11548742 [PubMed - indexed for MEDLINE]Related articles

Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class III region.

Vorechovsky I, Kralovicova J, Laycock MD, Webster AD, Marsh SG, Madrigal A, Hammarström L.

Eur J Hum Genet. 2001 Aug;9(8):590-8.PMID: 11528504 [PubMed - indexed for MEDLINE]Related articlesFree article

Low frequency of E-cadherin alterations in familial breast cancer.

Salahshor S, Haixin L, Huo H, Kristensen VN, Loman N, Sjöberg-Margolin S, Borg A, Børresen-Dale AL, Vorechovsky I, Lindblom A.

Breast Cancer Res. 2001;3(3):199-207. Epub 2001 Mar 9.PMID: 11305955 [PubMed - indexed for MEDLINE]Related articlesFree article

Recurrent ATM mutations in T-PLL on diverse haplotypes: no support for their germline origin.

Stankovic T, Taylor AM, Yuille MR, Vorechovsky I.

Blood. 2001 Mar 1;97(5):1517-8. No abstract available. PMID: 11243240 [PubMed - indexed for MEDLINE]Related articlesFree article

Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer.

Försti A, Luo L, Vorechovsky I, Söderberg M, Lichtenstein P, Hemminki K.

Carcinogenesis. 2001 Jan;22(1):27-33.PMID: 11159737 [PubMed - indexed for MEDLINE]Related articlesFree article

Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families.

Vorechovský I, Cullen M, Carrington M, Hammarström L, Webster AD.

J Immunol. 2000 Apr 15;164(8):4408-16.PMID: 10754342 [PubMed - indexed for MEDLINE]Related articlesFree article

Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID).

Hammarström L, Vorechovsky I, Webster D.

Clin Exp Immunol. 2000 May;120(2):225-31. Review. No abstract available. PMID: 10792368 [PubMed - indexed for MEDLINE]Related articlesFree article

Low frequency of alterations of the alpha (PPP2R1A) and beta (PPP2R1B) isoforms of the subunit A of the serine-threonine phosphatase 2A in human neoplasms.

Calin GA, di Iasio MG, Caprini E, Vorechovsky I, Natali PG, Sozzi G, Croce CM, Barbanti-Brodano G, Russo G, Negrini M.

Oncogene. 2000 Feb 24;19(9):1191-5.PMID: 10713707 [PubMed - indexed for MEDLINE]Related articlesFree article

UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients.

D'Errico M, Calcagnile A, Canzona F, Didona B, Posteraro P, Cavalieri R, Corona R, Vorechovsky I, Nardo T, Stefanini M, Dogliotti E.

Oncogene. 2000 Jan 20;19(3):463-7.PMID: 10656695 [PubMed - indexed for MEDLINE]Related articlesFree article

The patched/hedgehog/smoothened signalling pathway in human breast cancer: no evidence for H133Y SHH, PTCH and SMO mutations.

Vorechovský I, Benediktsson KP, Toftgård R.

Eur J Cancer. 1999 May;35(5):711-3.PMID: 10505029 [PubMed - indexed for MEDLINE]Related articles

A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families.

Vorechovský I, Blennow E, Nordenskjöld M, Webster AD, Hammarström L.

J Immunol. 1999 Aug 15;163(4):2236-42.PMID: 10438966 [PubMed - indexed for MEDLINE]Related articlesFree article

Missense mutations at ATM gene and cancer risk.

Vorechovsky I, Luo L, Ortmann E, Steinmann D, Dörk T.

Lancet. 1999 Apr 10;353(9160):1276. No abstract available. Erratum in: Lancet 1999 Aug 28;354(9180):780. PMID: 10217116 [PubMed - indexed for MEDLINE]Related articles

Refinement of the LOH region 1 at 11q23.1 deleted in human breast carcinomas and sublocalization of 11 expressed sequence tags within the refined region.

di Iasio MG, Calin G, Tibiletti MG, Vorechovsky I, Benediktsson KP, Taramelli R, Barbanti-Brodano G, Negrini M.

Oncogene. 1999 Feb 25;18(8):1635-8.PMID: 10102634 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.

Vorechovský I, Webster AD, Plebani A, Hammarström L.

Am J Hum Genet. 1999 Apr;64(4):1096-109.PMID: 10090895 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular cloning and characterization of ZNF202: a new gene at 11q23.3 encoding testis-specific zinc finger proteins.

Monaco C, Helmer Citterich M, Caprini E, Vorechovsky I, Russo G, Croce CM, Barbanti-Brodano G, Negrini M.

Genomics. 1998 Sep 15;52(3):358-62.PMID: 9790754 [PubMed - indexed for MEDLINE]Related articles

Ataxia-telangiectasia and T-cell leukemias: no evidence for somatic ATM mutation in sporadic T-ALL or for hypermethylation of the ATM-NPAT/E14 bidirectional promoter in T-PLL.

Luo L, Lu FM, Hart S, Foroni L, Rabbani H, Hammarström L, Yuille MR, Catovsky D, Webster AD, Vorechovský I.

Cancer Res. 1998 Jun 1;58(11):2293-7. Erratum in: Cancer Res 1998 Aug 1;58(15):3488. PMID: 9622061 [PubMed - indexed for MEDLINE]Related articlesFree article

ATM is usually rearranged in T-cell prolymphocytic leukaemia.

Yuille MA, Coignet LJ, Abraham SM, Yaqub F, Luo L, Matutes E, Brito-Babapulle V, Vorechovský I, Dyer MJ, Catovsky D.

Oncogene. 1998 Feb 12;16(6):789-96. Erratum in: Oncogene 1998 Jun 4;16(22):2955. PMID: 9488043 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23.

Monaco C, Negrini M, Sozzi G, Veronese ML, Vorechovsky I, Godwin AK, Croce CM.

Genomics. 1997 Dec 1;46(2):217-22.PMID: 9417908 [PubMed - indexed for MEDLINE]Related articles

Patched (ptch)-associated preferential expression of smoothened (smoh) in human basal cell carcinoma of the skin.

Kallassy M, Toftgård R, Ueda M, Nakazawa K, Vorechovský I, Yamasaki H, Nakazawa H.

Cancer Res. 1997 Nov 1;57(21):4731-5.PMID: 9354432 [PubMed - indexed for MEDLINE]Related articlesFree article

Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis.

Vorechovský I, Undén AB, Sandstedt B, Toftgård R, Ståhle-Bäckdahl M.

Cancer Res. 1997 Nov 1;57(21):4677-81.PMID: 9354420 [PubMed - indexed for MEDLINE]Related articlesFree article

Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.

Vorechovský I, Luo L, Dyer MJ, Catovsky D, Amlot PL, Yaxley JC, Foroni L, Hammarström L, Webster AD, Yuille MA.

Nat Genet. 1997 Sep;17(1):96-9.PMID: 9288106 [PubMed - indexed for MEDLINE]Related articles