Publications by authors named "Alexandra Filatova"

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Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Sofya Ionova, Andrey Marakhonov, Vitaliy Kadyshev, Svetlana Kuznetsova, Tatyana Vasilyeva, Alexandra Filatova

Pigment Cell Melanoma Res· January 2026

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Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the gene.
Artem Borovikov, Ksenia Davydenko, Aysylu Murtazina, Artem Sharkov, Ilya Kanivets, Alexandra Filatova

Front Genet· November 2025

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Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.
Evgeniya Osipova, Igor Bychkov, Alexandra Filatova, Artem Borovikov, Artem Sharkov

Epilepsia· October 2025

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uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.
Alexandra Filatova, Petr Vasiluev, Evgeniya Osipova, Olga Ivanova, Natalia Semenova

Hum Genet· October 2025

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Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Peter Sparber, Evgeniia Ulas, Alexandra Filatova, Eugene Tatarskiy, Grigory Perelman

J Clin Endocrinol Metab· July 2025

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Functional Analysis of Complex Structural and Splice-Altering Variants in the Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients.
Igor Bychkov, Alexandra Filatova, Galina Baydakova, Nataliya Sikora, Emiliya Garifullina

Hum Mutat· July 2025

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The Missing Piece of the Puzzle: Unveiling the Role of Gene in Multiple Osteochondromas in a Large Cohort Study.
Artem Borovikov, Nailya Galeeva, Andrey Marakhonov, Aysylu Murtazina, Varvara Kadnikova, Alexandra Filatova

Hum Mutat· April 2025

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Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.
Kseniya Davydenko, Alexandra Filatova, Mikhail Skoblov

J Cell Mol Med· March 2025

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The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the Gene.
Olga Shchagina, Leisan Gilazova, Alexandra Filatova, Zulfiia Vafina, Aysylu Murtazina

Int J Mol Sci· January 2025

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Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Anastasia M Bobreshova, Sofya A Ionova, Vitaly V Kadyshev, Natella V Sukhanova, Iuliia V Viakhireva, Alexandra Yu Filatova

Int J Mol Sci· October 2024

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Cases report: Mosaic structural variants of the gene in previously genetically unconfirmed multiple osteochondromas.
Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova

Front Genet· August 2024

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Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Peter Sparber, Margarita Sharova, Ksenia Davydenko, Denis Pyankov, Alexandra Filatova

Brain· April 2024

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Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.
Olga Levchenko, Alexandra Filatova, Irina Mishina, Aleksey Antonenko, Mikhail Skoblov

Front Genet· July 2023

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Evaluation of Pathogenicity and Causativity of Variants in the and Genes in a Family Case of Hereditary Peripheral Neuropathy.
Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov

Int J Mol Sci· June 2023

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Clinical and Functional Characteristics of the E92K Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Elena Kondratyeva, Yuliya Melyanovskaya, Nataliya Bulatenko, Ksenia Davydenko, Alexandra Filatova

Int J Mol Sci· March 2023

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Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs.
Alexandra Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova

Nucleic Acids Res· February 2023

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Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia.
Liubov O Skorodumova, Ksenia A Davydenko, Alexandra Y Filatova, Mikhail Yu Skoblov, Nikolay A Kulemin

Clin Genet· January 2023

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Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.
Igor Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir Kenis, Alexandra Filatova

NPJ Genom Med· November 2022

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A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.
Iuliia Viakhireva, Natalia Kalinchenko, Evgeny Vasilyev, Galina V Chistousova, Alexandra Filatova

J Clin Endocrinol Metab· August 2022

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Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.
Igor Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir Kenis, Alexandra Filatova

NPJ Genom Med· July 2022

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Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.
Igor Bychkov, Alexandra Filatova, Grigory Perelman, Tatiana Proshlyakova, Daria Korotkova

Eur J Hum Genet· January 2022

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Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Igor Bychkov, Galina Baydakova, Alexandra Filatova, Ochir Migiaev, Andrey Marakhonov

Int J Mol Sci· October 2021

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Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia.
Alexandra Y Filatova, Tatyana A Vasilyeva, Andrey V Marakhonov, Natella V Sukhanova, Anna A Voskresenskaya

Hum Mutat· August 2021

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Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level.
Daria Konina, Peter Sparber, Iuliia Viakhireva, Alexandra Filatova, Mikhail Skoblov

Int J Mol Sci· August 2021

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Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Elena Kondratyeva, Tatyana Bukharova, Anna Efremova, Yuliya Melyanovskaya, Natalia Bulatenko, Alexandra Filatova

Genes (Basel)· May 2021

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