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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: filatova a. 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
LINC01420 RNA structure and influence on cell physiology.
Konina DO, Filatova AY, Skoblov MY. Konina DO, et al. Among authors: filatova ay. BMC Genomics. 2019 May 8;20(Suppl 3):298. doi: 10.1186/s12864-019-5538-z. BMC Genomics. 2019. PMID: 32039714 Free PMC article.
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs.
Filatova A, Reveguk I, Piatkova M, Bessonova D, Kuziakova O, Demakova V, Romanishin A, Fishman V, Imanmalik Y, Chekanov N, Skitchenko R, Barbitoff Y, Kardymon O, Skoblov M. Filatova A, et al. Nucleic Acids Res. 2023 Feb 22;51(3):1229-1244. doi: 10.1093/nar/gkac1247. Nucleic Acids Res. 2023. PMID: 36651276 Free PMC article.
26 results