Search Results - "BARANOV, VLADISLAV S"
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On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
Published in Frontiers in genetics (30-04-2019)“…In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of…”
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Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
Published in Frontiers in genetics (18-05-2022)“…Floating Harbor syndrome (FHS) is an extremely rare disorder, with slightly more than a hundred cases reported worldwide. FHS is caused by heterozygous…”
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Telomere Length in Metaphase Chromosomes of Human Triploid Zygotes
Published in International journal of molecular sciences (25-05-2021)“…The human lifespan is strongly influenced by telomere length (TL) which is defined in a zygote—when two highly specialised haploid cells form a new diploid…”
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Telomere Length in Chromosomally Normal and Abnormal Miscarriages and Ongoing Pregnancies and Its Association with 5-hydroxymethylcytosine Patterns
Published in International journal of molecular sciences (21-06-2021)“…The present study investigates telomere length (TL) in dividing chorionic cytotrophoblast cells from karyotypically normal and abnormal first trimester…”
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Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates
Published in Current genomics (01-01-2018)“…Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the SMN1 gene. Being a monogenic disease, it is characterized by high clinical…”
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Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity
Published in PloS one (30-03-2015)“…Spinal muscular atrophy (SMA) is a monogenic neurodegenerative disorder subdivided into four different types. Whole genome methylation analysis revealed 40 CpG…”
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Synergistic Anti-Angiogenic Effects Using Peptide-Based Combinatorial Delivery of siRNAs Targeting VEGFA, VEGFR1, and Endoglin Genes
Published in Pharmaceutics (06-06-2019)“…Angiogenesis is a process of new blood vessel formation, which plays a significant role in carcinogenesis and the development of diseases associated with…”
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Molecular association of pathogenetic contributors to pre-eclampsia (pre-eclampsia associome)
Published in BMC systems biology (15-04-2015)“…Pre-eclampsia is the most common complication occurring during pregnancy. In the majority of cases, it is concurrent with other pathologies in a comorbid…”
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Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison
Published in Biomedicines (26-11-2021)“…We performed a comparative cytogenomic analysis of cultured and uncultured uterine leiomyoma (UL) samples. The experimental approach included karyotyping,…”
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Pathogenomics of Uterine Fibroids Development
Published in International journal of molecular sciences (06-12-2019)“…We review recent studies dealing with the molecular genetics and basic results of omics analysis of uterine leiomyoma (LM)-a common benign muscle tumor of the…”
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Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III
Published in BMC medical genetics (15-07-2011)“…Spinal muscular atrophy (SMA type I, II and III) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN1)…”
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Systems genetics view of endometriosis: a common complex disorder
Published in European journal of obstetrics & gynecology and reproductive biology (01-02-2015)“…Abstract Endometriosis is a condition in which cells derived from the endometrium grow outside the uterus, e.g. in the peritoneum (external genital…”
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Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients
Published in International journal of gynecological pathology (01-11-2016)“…Uterine leiomyomas (ULs) are common benign tumors affecting women of different ethnicities. A large proportion of UL has mutations in MED12. Multiple and…”
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Placental microRNA expression in pregnancies complicated by superimposed pre-eclampsia on chronic hypertension
Published in Molecular medicine reports (01-07-2016)“…Pre-eclampsia (PE) is a complication of pregnancy that affects 5-8% of women after 20 weeks of gestation. It is usually diagnosed based on the de novo onset of…”
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Targeted sequencing analysis of ACVR2A gene identifies novel risk variants associated with preeclampsia
Published in The journal of maternal-fetal & neonatal medicine (02-09-2019)“…Background: Preeclampsia (PE) is the most common complication of pregnancy that remains to be a major cause of maternal and fetal mortality. Prediction and…”
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The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation
Published in Journal of trace elements in medicine and biology (01-05-2020)“…Background. Wilson’s disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs…”
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Comparative systems genetics view of endometriosis and uterine leiomyoma: Two sides of the same coin?
Published in Systems biology in reproductive medicine (03-03-2016)“…Endometriosis (EM) and uterine leiomyoma (UL) are two most frequent benign tumors of monoclonal origin affecting about 30% of all women in their reproductive…”
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Genome-wide 5-hydroxymethylcytosine patterns in human spermatogenesis are associated with semen quality
Published in Oncotarget (24-10-2017)“…We performed immunofluorescent analysis of DNA hydroxymethylation and methylation in human testicular spermatogenic cells from azoospermic patients and…”
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Case of chromothripsis in a large solitary non-recurrent uterine leiomyoma
Published in European journal of obstetrics & gynecology and reproductive biology (01-12-2017)Get full text
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Genomic distribution of 5‐formylcytosine and 5‐carboxylcytosine in human preimplantation embryos
Published in Molecular reproduction and development (01-12-2018)Get full text
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