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Exonic splicing code and coordination of divalent metals in proteins.
Bakhtiar D, Vondraskova K, Pengelly RJ, Chivers M, Kralovicova J, Vorechovsky I. Bakhtiar D, et al. Among authors: vorechovsky i. Nucleic Acids Res. 2024 Feb 9;52(3):1090-1106. doi: 10.1093/nar/gkad1161. Nucleic Acids Res. 2024. PMID: 38055834 Free PMC article.
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. Oka M, et al. Among authors: vorechovsky i. Pediatr Nephrol. 2014 Sep;29(9):1535-44. doi: 10.1007/s00467-014-2797-4. Epub 2014 Mar 15. Pediatr Nephrol. 2014. PMID: 24633401
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. Nozu K, et al. Among authors: vorechovsky i. Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1958-64. doi: 10.2215/CJN.04140414. Epub 2014 Sep 2. Clin J Am Soc Nephrol. 2014. PMID: 25183659 Free PMC article.
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. Nozu K, et al. Among authors: vorechovsky i. J Hum Genet. 2017 Feb;62(2):335-337. doi: 10.1038/jhg.2016.129. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784896
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. Nozu K, et al. Among authors: vorechovsky i. J Hum Genet. 2017 Jul;62(7):733-735. doi: 10.1038/jhg.2017.28. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28275241
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. Nozu K, et al. Among authors: vorechovsky i. Mol Genet Genomic Med. 2017 Mar 1;5(3):287-294. doi: 10.1002/mgg3.277. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546999 Free PMC article.
Branch site haplotypes that control alternative splicing.
Královicová J, Houngninou-Molango S, Krämer A, Vorechovsky I. Královicová J, et al. Among authors: vorechovsky i. Hum Mol Genet. 2004 Dec 15;13(24):3189-202. doi: 10.1093/hmg/ddh334. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496424
129 results