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57 results

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Page 1
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Sparber P, Ulas E, Filatova A, Tatarskiy E, Perelman G, Makretskaya N, Nagaeva E, Kareva M, Frolova E, Kalinchenko N, Tvorogova AV, Golyshev S, Burakov A, Tabakov V, Lozier E, Konovalov F, Voinova V, Tiulpakov A, Skoblov M. Sparber P, et al. Among authors: tabakov v. J Clin Endocrinol Metab. 2025 Jul 15;110(8):e2485-e2497. doi: 10.1210/clinem/dgae839. J Clin Endocrinol Metab. 2025. PMID: 39657131
Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.
Sparber P, Filatova A, Anisimova I, Markova T, Voinova V, Chuhrova A, Tabakov V, Skoblov M. Sparber P, et al. Among authors: tabakov v. Eur J Med Genet. 2020 Dec;63(12):104088. doi: 10.1016/j.ejmg.2020.104088. Epub 2020 Oct 15. Eur J Med Genet. 2020. PMID: 33069932
P.F508del editing in cells from cystic fibrosis patients.
Smirnikhina SA, Kondrateva EV, Adilgereeva EP, Anuchina AA, Zaynitdinova MI, Slesarenko YS, Ershova AS, Ustinov KD, Yasinovsky MI, Amelina EL, Voronina ES, Yakushina VD, Tabakov VY, Lavrov AV. Smirnikhina SA, et al. Among authors: tabakov vy. PLoS One. 2020 Nov 11;15(11):e0242094. doi: 10.1371/journal.pone.0242094. eCollection 2020. PLoS One. 2020. PMID: 33175893 Free PMC article.
Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.
Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY. Krylova TD, et al. Among authors: tabakov vy. Mitochondrion. 2020 Jan;50:139-144. doi: 10.1016/j.mito.2019.10.002. Epub 2019 Oct 26. Mitochondrion. 2020. PMID: 31669237
Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.
Panchuk IO, Grigorieva OV, Kondrateva EV, Kurshakova EV, Tabakov V, Bychkov IO, Zakharova E, Orlova MD, Voronina ES, Pozhitnova VO, Lavrov AV, Smirnikhina SA, Kutsev SI. Panchuk IO, et al. Among authors: tabakov v. Stem Cell Res. 2023 Sep;71:103183. doi: 10.1016/j.scr.2023.103183. Epub 2023 Aug 15. Stem Cell Res. 2023. PMID: 37643494 Free article.
Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene.
Panchuk I, Kondrateva E, Demchenko A, Grigorieva O, Erofeeva A, Amelina E, Tabakov V, Orlova M, Voronina E, Pozhitnova V, Lavrov A, Smirnikhina S, Kutsev S. Panchuk I, et al. Among authors: tabakov v. Stem Cell Res. 2022 Oct;64:102896. doi: 10.1016/j.scr.2022.102896. Epub 2022 Aug 18. Stem Cell Res. 2022. PMID: 36067639 Free article.
57 results