Publications by authors named "E V Kravets"

Guanylate binding proteins (GBPs) are large interferon-inducible GTPases, executing essential host defense activities against Toxoplasma gondii, an invasive intracellular apicomplexan protozoan parasite of global importance. T. gondii establishes a parasitophorous vacuole (PV) which shields the parasite from the host's intracellular defense mechanisms.

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Article Synopsis
  • - Phelan-McDermid syndrome (PMS) is a rare genetic disorder linked to the loss of the SHANK3 gene, and while many of its clinical features are known, cardiovascular issues, particularly aortic root dilation (ARD), are less explored.
  • - A study of 59 PMS participants aimed to determine the prevalence of ARD and its potential links to specific genetic variations, particularly focusing on the size of deletions on chromosome 22.
  • - Findings revealed that 14% of participants had ARD, with a statistically significant association between larger chromosome 22 deletions and an increased incidence of ARD, indicating that genetic factors may help identify those at higher risk.
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Purpose: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings.

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Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature.

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Bacillus anthracis is a pathogenic bacterium, which causes anthrax disease. The ability of this bacterium to form spores, which can be preserved in soil for decades and cause outbreaks later on, makes this pathogen a serious problem for veterinary and health services of many countries. Siberia is one of the most anthrax-influenced regions of Russia.

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