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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)
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.
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Natural history of genetically proven autosomal recessive Alport syndrome.
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Allele-specific recognition of the 3' splice site of INS intron 1.
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Computational prediction of splicing regulatory elements shared by Tetrapoda organisms.
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Transposable elements in disease-associated cryptic exons.
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Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
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SERPING1 rs2511988 and age-related macular degeneration.
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Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
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Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
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Phenotypic consequences of branch point substitutions.
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Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs.
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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.
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Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression.
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Lei H, Day IN, Vorechovský I.
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Intergenic transcripts in genes with phase I introns.
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Branch site haplotypes that control alternative splicing.
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Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.
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Leukemia. 2004 Mar;18(3):420-5.
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Kralovicova J, Hammarström L, Plebani A, Webster AD, Vorechovsky I.
J Immunol. 2003 Mar 1;170(5):2765-75.
BACH1 517C-->T transition impairs protein translocation to nucleus: a role in breast cancer susceptibility?
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The HLA-DRA*0102 allele: correct nucleotide sequence and associated HLA haplotypes.
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Tissue Antigens. 2002 Sep;60(3):266-7.
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