The role of long non-coding RNAs in the pathogenesis of hereditary diseases

by Peter Sparber, Alexandra Filatova, Mira Khantemirova, Mikhail Skoblov
Published 2019-03-01

Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level

by Daria Konina, Peter Sparber, Iuliia Viakhireva, Alexandra Filatova, Mikhail Skoblov
Published 2021-08-01

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

by Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov
Published 2020-10-01

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

by Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina
Published 2019-10-01

Functional Analysis of the <i>PCCA</i> and <i>PCCB</i> Gene Variants Predicted to Affect Splicing

by Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova
Published 2021-04-01

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

by Elena Kondratyeva, Tatyana Bukharova, Anna Efremova, Yuliya Melyanovskaya, Natalia Bulatenko, Ksenia Davydenko, Alexandra Filatova, Mikhail Skoblov, Stanislav Krasovsky, Nika Petrova, Alexander Polyakov, Tagui Adyan, Elena Amelina, Vera Shadrina, Elena Zhekaite, Aysa Zodbinova, Alexander Chernyak, Rena Zinchenko, Sergei Kutsev, Dmitry Goldshtein
Published 2021-05-01