Olga Aleksandrovna Levchenko

Olga Aleksandrovna Levchenko
Research Centre of Medical Genetics (RCMG) · Laboratory of mutagenesis

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13
Publications
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47
Citations

Publications

Publications (13)
Article
Intellectual disability is a widespread group of diseases with population frequency 1–3%. More than half of intellectual disability cases are due to various genetic causes, including monogenic ones. The paper describes three clinical cases of MED13L-associated intellectual disability with an autosomal dominant inheritance. Novel probably pathogenic...
Article
The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence importan...
Article
Full-text available
Purpose: To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder. Methods: A combination of exome sequencing and gene matching tools was used to identify pathogenic variants in 17 individuals. Quantitative reverse transcription polymerase chain reaction (RT-qPCR) and subcellular localization...
Article
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Введение. Х-сцепленная умственная отсталость 102‑го типа, обусловленная мутациями в гене DDX3X, – один из наиболее распространенных моногенных вариантов интеллектуального дефицита у лиц женского пола. Цель исследования – описание клинико-генетических характеристик лиц женского пола в России с умственной отсталостью 102‑го типа, обусловленных вновь...
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The ALF transcription factor paralogs, AFF1, AFF2, AFF3 and AFF4 , are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe a new autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence impor...
Article
Full-text available
Gold or silver nanoparticles (NP) were covered with protein corona by: 1) direct binding with a number of proteins; 2) nanoprecipitation of proteins from their solutions in fluoroalcohols; 3) physisorption of proteins on the NP surface treated with poly (allylamine) s; 4) encapsulation of Ag or Au NP into SiO 2 envelope and functionalization with o...
Article
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Guanine-rich DNA/RNA fragments can fold into G-quadruplexes (G4s) – non-canonical four-strand secondary structures. The article contains data on quadruplex interaction with human proteins. Binding of three topologically different G4 structures to more than 9000 human proteins was analyzed. Physicochemical methods were used to verify the results.The...
Article
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Gene mutations occur with high frequency in children with mental retardation. Standard diagnostic methods, such as TMS, Sanger's sequencing of individual genes, MLPA analysis of deletions, and investigation of methylation status in Martin-Bell syndrome are not informative in the majority of cases that hampered further diagnostic efforts. Massive pa...
Article
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Cohen syndrome is a rare autosomal-recessive disorder characterized by intellectual disability, myopia, hypotonia, and skeletal malformations. Its clinical diagnosis is impeded by marked inter- and intrafamilial phenotypic variability. Gene VPS13B that carries disease-associated mutations has 62 exons, making Sanger sequencing of the entire gene un...
Article
Full-text available
Depression is the most common form of mental disability in the world. Depressive episodes may be precipitated by severe acute stressful events or by mild chronic stressors. Studies on the mechanisms of depression require both appropriate experimental models (most of them based on the exposure of animals to chronic stressors), and appropriate tests...

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