Publications by authors named "A Y Mukhina"
Macromolecular assembly depends on tightly regulated pairwise binding interactions that are selectively favored at assembly sites while being disfavored in the soluble phase. This selective control can arise due to molecular density-enhanced binding, as recently found for the kinetochore scaffold protein CENP-T. When clustered, CENP-T recruits markedly more Ndc80 complexes than its monomeric counterpart, but the underlying molecular basis remains elusive.
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- * A pilot screening program in Russia analyzed 202,908 newborns, finding 157 with trisomy 21, indicating a birth prevalence of 1:1,284, and explored their lymphocyte levels (TREC and KREC).
- * Results showed reduced TREC values in DS newborns, similar to extremely preterm infants, and significant KREC differences from the general newborn population, highlighting the need for deeper research into immune development in DS and better support from healthcare teams.
Article Synopsis
- A male newborn was found to have low TREC values, indicating T cell lymphopenia, and genetic testing revealed a mutation linked to Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate syndrome (EEC).
- This case underscores the importance of further research on the immune system issues related to mutations in the TP63 gene, suggesting that patients with such mutations should undergo thorough immunological assessments.
Article Synopsis
- A study analyzed genetic defects in 1809 Russian children with inborn errors of immunity (IEI), finding that 61.5% had identifiable genetic issues.
- The defects predominantly involved single gene variants (87.9%), with a significant portion of variants being novel, highlighting the genetic diversity within this population.
- Inherited patterns of defects showed a mix of autosomal dominant (29%), X-linked (34%), and autosomal recessive (37%), with notable cases of "Slavic" mutations contributing to the findings.
[Application of peripheral magnetic stimulation in physiotherapeutic practice. (A literature review)].
Vopr Kurortol Fizioter Lech Fiz Kult
June 2024
Unlabelled: Search and development of new physiotherapeutic technologies of regenerative medicine for the treatment of patients with different diseases is an urgent task of modern medicine.
Objective: To analyze scientific data on the effectiveness of the peripheral magnetic stimulation (PMS) application in patients with different diseases.
Material And Methods: An analysis of publications in databases of electronic resources (PEDro, PubMed, Embase, eLibrary, Cochrane Library) over the past 20 years was carried out, the results of PMS application in patients with different nosologies were presented.