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Best matches for Vořechovský I[au]:

Natural history of genetically proven autosomal recessive Alport syndrome. Oka M et al. Pediatr Nephrol. (2014)

A birth of bipartite exon by intragenic deletion. Nozu K et al. Mol Genet Genomic Med. (2017)

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. Nozu K et al. J Hum Genet. (2017)

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Items: 1 to 50 of 120


Thioflavin T Monitoring of Guanine Quadruplex Formation in the rs689-Dependent INS Intron 1.

Lages A, Proud CG, Holloway JW, Vorechovsky I.

Mol Ther Nucleic Acids. 2019 Jun 7;16:770-777. doi: 10.1016/j.omtn.2019.04.026. Epub 2019 May 13.


Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions.

Vergara-Lope A, Ennis S, Vorechovsky I, Pengelly RJ, Collins A.

Eur J Hum Genet. 2019 Sep;27(9):1436-1444. doi: 10.1038/s41431-019-0419-0. Epub 2019 May 3.


PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.

Královicová J, Ševcíková I, Stejskalová E, Obuca M, Hiller M, Stanek D, Vorechovský I.

Nucleic Acids Res. 2018 Jul 6;46(12):6166-6187. doi: 10.1093/nar/gky389.


A birth of bipartite exon by intragenic deletion.

Nozu K, Iijima K, Igarashi T, Yamada S, Kralovicova J, Nozu Y, Yamamura T, Minamikawa S, Morioka I, Ninchoji T, Kaito H, Nakanishi K, Vorechovsky I.

Mol Genet Genomic Med. 2017 Mar 1;5(3):287-294. doi: 10.1002/mgg3.277. eCollection 2017 May.


Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.

Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K.

J Hum Genet. 2017 Jul;62(7):733-735. doi: 10.1038/jhg.2017.28. Epub 2017 Mar 9.


Cryptic exon activation in SLC12A3 in Gitelman syndrome.

Nozu K, Nozu Y, Nakanishi K, Konomoto T, Horinouchi T, Shono A, Morisada N, Minamikawa S, Yamamura T, Fujimura J, Nakanishi K, Ninchoji T, Kaito H, Morioka I, Taniguchi-Ikeda M, Vorechovsky I, Iijima K.

J Hum Genet. 2017 Feb;62(2):335-337. doi: 10.1038/jhg.2016.129. Epub 2016 Oct 27.


Stoichiometries of U2AF35, U2AF65 and U2 snRNP reveal new early spliceosome assembly pathways.

Chen L, Weinmeister R, Kralovicova J, Eperon LP, Vorechovsky I, Hudson AJ, Eperon IC.

Nucleic Acids Res. 2017 Feb 28;45(4):2051-2067. doi: 10.1093/nar/gkw860.


Antisense Oligonucleotides Modulating Activation of a Nonsense-Mediated RNA Decay Switch Exon in the ATM Gene.

Kralovicova J, Moreno PM, Cross NC, Pêgo AP, Vorechovsky I.

Nucleic Acid Ther. 2016 Dec;26(6):392-400. Epub 2016 Sep 22.


Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons.

Kralovicova J, Vorechovsky I.

Nucleic Acids Res. 2017 Jan 9;45(1):417-434. doi: 10.1093/nar/gkw733. Epub 2016 Aug 26.


Corrigendum: Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting.

Kralovicova J, Knut M, Cross NC, Vorechovsky I.

Sci Rep. 2016 May 9;6:25256. doi: 10.1038/srep25256. No abstract available.


Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting.

Kralovicova J, Knut M, Cross NC, Vorechovsky I.

Sci Rep. 2016 Jan 6;6:18741. doi: 10.1038/srep18741. Erratum in: Sci Rep. 2016 May 09;6:25256.


X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.

Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, Shono A, Taniguchi-Ikeda M, Shima Y, Nakanishi K, Vorechovsky I, Iijima K.

Clin Exp Nephrol. 2016 Oct;20(5):699-702. Epub 2015 Nov 18.


The role of short RNA loops in recognition of a single-hairpin exon derived from a mammalian-wide interspersed repeat.

Kralovicova J, Patel A, Searle M, Vorechovsky I.

RNA Biol. 2015;12(1):54-69. doi: 10.1080/15476286.2015.1017207.


Identification of U2AF(35)-dependent exons by RNA-Seq reveals a link between 3' splice-site organization and activity of U2AF-related proteins.

Kralovicova J, Knut M, Cross NC, Vorechovsky I.

Nucleic Acids Res. 2015 Apr 20;43(7):3747-63. doi: 10.1093/nar/gkv194. Epub 2015 Mar 16.


Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.

Nozu K, Iijima K, Ohtsuka Y, Fu XJ, Kaito H, Nakanishi K, Vorechovsky I.

Mol Genet Genomic Med. 2014 Sep;2(5):451-3. doi: 10.1002/mgg3.89. Epub 2014 May 28.


X-linked Alport syndrome caused by splicing mutations in COL4A5.

Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K.

Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1958-64. doi: 10.2215/CJN.04140414. Epub 2014 Sep 2.


Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex.

Kralovicova J, Lages A, Patel A, Dhir A, Buratti E, Searle M, Vorechovsky I.

Nucleic Acids Res. 2014 Jul;42(12):8161-73. doi: 10.1093/nar/gku507. Epub 2014 Jun 17.


Natural history of genetically proven autosomal recessive Alport syndrome.

Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Morisada N, Yan K, Matsuo M, Yoshikawa N, Vorechovsky I, Iijima K.

Pediatr Nephrol. 2014 Sep;29(9):1535-44. doi: 10.1007/s00467-014-2797-4. Epub 2014 Mar 15.


Why do we see JAK2 exon 12 mutations in myeloproliferative neoplasms?

Vorechovsky I, Jones AV, Cross NC.

Leukemia. 2013 Sep;27(9):1930-2. doi: 10.1038/leu.2013.85. Epub 2013 Mar 20. No abstract available.


Targeting branch sites of new exons?

Vorechovsky I.

J Med Genet. 2012 Jul;49(7):480. doi: 10.1136/jmedgenet-2012-101055. Epub 2012 Jun 22. No abstract available.


The gene involved in X-linked agammaglobulinaemia is a member of the Src family of protein-tyrosine kinases. 1993.

Vetrie D, Vořechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M, Smith CI, Bentley DR.

J Immunol. 2012 Apr 1;188(7):2948-55. No abstract available.


Compensatory signals associated with the activation of human GC 5' splice sites.

Kralovicova J, Hwang G, Asplund AC, Churbanov A, Smith CI, Vorechovsky I.

Nucleic Acids Res. 2011 Sep 1;39(16):7077-91. doi: 10.1093/nar/gkr306. Epub 2011 May 23.


Cryptic splice sites and split genes.

Kapustin Y, Chan E, Sarkar R, Wong F, Vorechovsky I, Winston RM, Tatusova T, Dibb NJ.

Nucleic Acids Res. 2011 Aug;39(14):5837-44. doi: 10.1093/nar/gkr203. Epub 2011 Apr 5.


Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

Raponi M, Kralovicova J, Copson E, Divina P, Eccles D, Johnson P, Baralle D, Vorechovsky I.

Hum Mutat. 2011 Apr;32(4):436-44. doi: 10.1002/humu.21458. Epub 2011 Mar 8.


DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites.

Buratti E, Chivers M, Hwang G, Vorechovsky I.

Nucleic Acids Res. 2011 Jan;39(Database issue):D86-91. doi: 10.1093/nar/gkq887. Epub 2010 Oct 6.


Allele-specific recognition of the 3' splice site of INS intron 1.

Kralovicova J, Vorechovsky I.

Hum Genet. 2010 Oct;128(4):383-400. doi: 10.1007/s00439-010-0860-1. Epub 2010 Jul 14.


MER91B-assisted cryptic exon activation in Gitelman syndrome.

Vorechovsky I.

Pediatr Res. 2010 Apr;67(4):444; author reply 444-5. doi: 10.1203/PDR.0b013e3181d6922c. No abstract available.


A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements.

Churbanov A, Vorechovský I, Hicks C.

BMC Bioinformatics. 2010 Jan 12;11:22. doi: 10.1186/1471-2105-11-22.


Computational prediction of splicing regulatory elements shared by Tetrapoda organisms.

Churbanov A, Vorechovský I, Hicks C.

BMC Genomics. 2009 Nov 4;10:508. doi: 10.1186/1471-2164-10-508.


Transposable elements in disease-associated cryptic exons.

Vorechovsky I.

Hum Genet. 2010 Feb;127(2):135-54. doi: 10.1007/s00439-009-0752-4. Epub 2009 Oct 10.


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. doi: 10.1002/humu.20969.


SERPING1 rs2511988 and age-related macular degeneration.

Kralovicova J, Vorechovsky I.

Lancet. 2009 Feb 7;373(9662):461-2. doi: 10.1016/S0140-6736(09)60168-9. No abstract available.


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. doi: 10.1038/ejhg.2008.257. Epub 2009 Jan 14.


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.


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.


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.


Phenotypic consequences of branch point substitutions.

Královicová J, Lei H, Vorechovský I.

Hum Mutat. 2006 Aug;27(8):803-13.


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.


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.


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.


Intergenic transcripts in genes with phase I introns.

Královicová J, Vorechovský I.

Genomics. 2005 Apr;85(4):431-40.


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.


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.


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.


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.


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