Publications by authors named "A Zlotina"
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects cilia movement, leading to chronic respiratory issues, infertility, and laterality defects in about half of the cases; however, genetic understanding in the Russian population is limited.
- This study analyzed 21 Russian families with PCD, using advanced techniques to confirm ciliary anomalies and discover genetic variants in several PCD-related genes, including both common mutations and novel variants likely unique to Russian individuals.
- The research identified specific mutations that affect gene splicing, with one variant (c.2052+3G>T) linked to an ancestral founder mutation in the Udmurt population, highlighting the significance of regional genetic studies in understanding PCD.
Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by central alveolar hypoventilation and impaired autonomic regulation, caused by pathogenic variants of gene. More than 90% of patients have a polyalanine repeat mutation (PARM) in the heterozygous state, characterized by the expansion of GCN repeats and an increase in the number of alanine repeats, so that genotypes 20/24-20/33 are formed (the normal genotype is 20/20). The remaining 10% of patients harbor non-PARMs.
View Article and Find Full Text PDFIt is known that the SARS-CoV-2 virus may cause neurologic damage. Rapid-onset obesity, hypoventilation, hypothalamus dysfunction, and autonomic dysregulation (ROHHAD) syndrome is a disease of unknown etiology with a progressive course and unclear outcomes. The etiology of ROHHAD syndrome includes genetic, epigenetic, paraneoplastic, and immune-mediated theories, but to our knowledge, viral-associated cases of the disease have not been described yet.
View Article and Find Full Text PDFArticle Synopsis
- Human iPSC cell line FAMRCi009-A was created from a patient with restrictive cardiomyopathy and a specific genetic variant (FLNC p.Val2264Met).
- The cell line was generated using non-integrative Sendai viruses, resulting in iPSCs that have a normal karyotype and express key pluripotency markers.
- These iPSCs demonstrated the ability to differentiate into three germ layers in vitro, making them valuable for studying filaminopathies in greater detail.
Human iPSC cell line FAMRCi010-A was generated from a patient with restrictive cardiomyopathy carrying FLNC p.Gly2011Arg genetic variant. Patient-specific peripheral blood mononuclear cells were reprogrammed using non-integrative Sendai viruses containing OCT4, SOX2, KLF4, and CMYC.
View Article and Find Full Text PDF