Publications by authors named "D Gryadunov"

Article Synopsis
  • * Genetic analysis using trio-based exome sequencing found benign variants of the AIRE gene in all participants, which helped differentiate AAI and exclude APS type 1.
  • * The study recommends whole genome analysis in future research to discover genetic predictors of autoimmune diseases, after identifying risk alleles in patients and noting the prevalence of specific haplotypes in healthy individuals.
View Article and Find Full Text PDF

Given the high growth rates of cognitive decline among the elderly population and the lack of effective etiological treatments, early diagnosis of cognitive impairment progression is an imperative task for modern science and medicine. It is of particular interest to identify predictors of an unfavorable subsequent course of cognitive disorders, specifically, rapid progression. Our study assessed the informative role of various risk factors on the dynamics of cognitive impairment among mild cognitive impairment (MCI) patients.

View Article and Find Full Text PDF

To reduce severe fluoropyrimidine-related toxicity, pharmacogenetic guidelines recommend a dose reduction for carriers of four high-risk variants in the gene (*2A, *13, c.2846A>T, HapB3). The polymorphism in the gene has been shown to enhance the predictive value of these variants.

View Article and Find Full Text PDF

Patients with pancreatic cancer (PC) showing mismatch repair (MMR) deficiency may benefit from immunotherapy. Microsatellite instability (MSI) is a hallmark of MMR deficiency (MMR-D). Here, we estimated the prevalence of MSI in PC, investigated germline and somatic mutations in the three MMR genes (, , and ), and assessed the relationship between MMR genes mutations and MSI status in PC.

View Article and Find Full Text PDF

The increasing problem of antimicrobial resistance in necessitates the development of molecular typing schemes that are suitable for rapid and mass screening. The objective of this study was to design and validate a mini-MLST scheme for based on global pathogen population data. Using sequences of seven housekeeping genes of 21,402 isolates with known MLSTs from the PubMLST database, we identified eighteen informative polymorphisms and obtained mini-MLST nucleotide profiles to predict MLSTs of isolates.

View Article and Find Full Text PDF