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Genetic And Epigenetic Aspects of The Development of Congenital Surgical Pathologies in Newborns

Year: 2025
Type: article
Abstract: Congenital surgical pathologies in newborns represent a serious medical problem, affecting both the quality of life of patients and the effectiveness of medical intervention. This paper investigates the genetic and epigenetic aspects of the formation of these pathologies in order to identify key The study analyzed mutations in genes responsible for morphogenesis and embryonic development (PAX6, SHH, FGF8), and investigated the influence of epigenetic factors such as DNA methylation and histone modifications. Bioinformatics analysis of genetic data, epigenetic profiling and clinical observations were used. The results show that the combination of inherited mutations and unfavorable epigenetic changes caused by environmental factors plays a key role in the development of congenital pathologies. This opens new perspectives for early diagnosis and targeted prevention methods.
DOI: 10.52783/jns.v14.2367
Authors: Anna Alexandrovna Ustimenko, Anastasiia Ilinichna Volkova, Zinaida Murmanovna Kokhreidze, Anastasia Vladimirovna Korotkova, Elena G. Petrenko, Valery Alexandrovich Markov, Alexander Markov
Institutions: S. M. Kirov Military Medical Academy, Saratov State Medical University, Ural State Medical University, Kuban State Agrarian University, Tyumen State Medical University, Industrial University of Tyumen
Language: English
Open Access status: diamond
OpenAlex ID: W4409144910
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