Publications by authors named "Igor Vorechovsky"

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From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites.
Igor Vořechovský

J Hum Genet· March 2025

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Copper-binding proteins and exonic splicing enhancers and silencers.
Dara Bakhtiar, Igor Vorechovsky

Metallomics· May 2024

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Exonic splicing code and coordination of divalent metals in proteins.
Dara Bakhtiar, Katarina Vondraskova, Reuben J Pengelly, Martin Chivers, Jana Kralovicova, Igor Vorechovsky

Nucleic Acids Res· February 2024

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Alu RNA fold links splicing with signal recognition particle proteins.
Ivana Borovská, Igor Vořechovský, Jana Královičová

Nucleic Acids Res· August 2023

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Exonic splicing code and protein binding sites for calcium.
Reuben J Pengelly, Dara Bakhtiar, Ivana Borovská, Jana Královičová, Igor Vořechovský

Nucleic Acids Res· June 2022

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Selection of Olduvai Domains during Evolution: A Role for Primate-Specific Splicing Super-Enhancer and RNA Guanine Quadruplex in Bipartite Exons.
Igor Vořechovský

Brain Sci· June 2022

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Background splicing as a predictor of aberrant splicing in genetic disease.
Diana Alexieva, Yi Long, Rupa Sarkar, Hansraj Dhayan, Emmanuel Bruet, Igor Vorechovsky

RNA Biol· March 2022

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Transposon clusters as substrates for aberrant splice-site activation.
Maria Elena Vilar Alvarez, Martin Chivers, Ivana Borovska, Steven Monger, Eleni Giannoulatou, Igor Vorechovsky

RNA Biol· March 2021

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Restriction of an intron size en route to endothermy.
Jana Královičová, Ivana Borovská, Reuben Pengelly, Eunice Lee, Pavel Abaffy

Nucleic Acids Res· March 2021

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Cancer-Associated Substitutions in RNA Recognition Motifs of PUF60 and U2AF65 Reveal Residues Required for Correct Folding and 3' Splice-Site Selection.
Jana Kralovicova, Ivana Borovska, Monika Kubickova, Peter J Lukavsky, Igor Vorechovsky

Cancers (Basel)· July 2020

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Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions.
Alejandra Vergara-Lope, Sarah Ennis, Igor Vorechovsky, Reuben J Pengelly, Andrew Collins

Eur J Hum Genet· September 2019

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Thioflavin T Monitoring of Guanine Quadruplex Formation in the rs689-Dependent INS Intron 1.
Ana Lages, Christopher G Proud, John W Holloway, Igor Vorechovsky

Mol Ther Nucleic Acids· June 2019

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PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
Jana Královicová, Ivana Ševcíková, Eva Stejskalová, Mina Obuca, Michael Hiller

Nucleic Acids Res· July 2018

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Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
Kandai Nozu, Shogo Minamikawa, Shiro Yamada, Masafumi Oka, Motoko Yanagita, Igor Vorechovsky

J Hum Genet· July 2017

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A birth of bipartite exon by intragenic deletion.
Kandai Nozu, Kazumoto Iijima, Toru Igarashi, Shiro Yamada, Jana Kralovicova, Igor Vorechovsky

Mol Genet Genomic Med· May 2017

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Stoichiometries of U2AF35, U2AF65 and U2 snRNP reveal new early spliceosome assembly pathways.
Li Chen, Robert Weinmeister, Jana Kralovicova, Lucy P Eperon, Igor Vorechovsky

Nucleic Acids Res· February 2017

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Cryptic exon activation in SLC12A3 in Gitelman syndrome.
Kandai Nozu, Yoshimi Nozu, Keita Nakanishi, Takao Konomoto, Tomoko Horinouchi, Igor Vorechovsky

J Hum Genet· February 2017

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Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons.
Jana Kralovicova, Igor Vorechovsky

Nucleic Acids Res· January 2017

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Antisense Oligonucleotides Modulating Activation of a Nonsense-Mediated RNA Decay Switch Exon in the ATM Gene.
Jana Kralovicova, Pedro M D Moreno, Nicholas C P Cross, Ana Paula Pêgo, Igor Vorechovsky

Nucleic Acid Ther· December 2016

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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.
Xue Jun Fu, Kandai Nozu, Aya Eguchi, Yoshimi Nozu, Naoya Morisada, Igor Vorechovsky

Clin Exp Nephrol· October 2016

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Corrigendum: Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting.
Jana Kralovicova, Marcin Knut, Nicholas C P Cross, Igor Vorechovsky

Sci Rep· May 2016

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Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting.
Jana Kralovicova, Marcin Knut, Nicholas C P Cross, Igor Vorechovsky

Sci Rep· January 2016

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The role of short RNA loops in recognition of a single-hairpin exon derived from a mammalian-wide interspersed repeat.
Jana Kralovicova, Alpa Patel, Mark Searle, Igor Vorechovsky

RNA Biol· November 2015

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Identification of U2AF(35)-dependent exons by RNA-Seq reveals a link between 3' splice-site organization and activity of U2AF-related proteins.
Jana Kralovicova, Marcin Knut, Nicholas C P Cross, Igor Vorechovsky

Nucleic Acids Res· April 2015

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Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.
Kandai Nozu, Kazumoto Iijima, Yasufumi Ohtsuka, Xue Jun Fu, Hiroshi Kaito, Igor Vorechovsky

Mol Genet Genomic Med· September 2014

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