The Specifics of Hypertrophic Cardiomyopathy Clinical Presentation in Patients With Various Mutations of Sarcomere Genes

Комиссарова, С. М.; Чакова, Н. Н.; Ниязова, С. С.; Казаков, С. В.; Zhukova, Elena; Aleksandrov, A. V.; Глотов, О. С.; Глотов, А. С.

doi:10.15829/1560-4071-2016-1-20-25

Cited by 1 publication

(2 citation statements)

References 15 publications

(17 reference statements)

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“…Our study provides a follow-up to the research carried out by fellow investigators, with the aim of shedding light on the mode of inheritance of cardiomyopathies and to identify potential risk markers of the disease. The study subjects therefore include patients and conditionally healthy donors with different (favorable or unfavorable) histories [ 65 , 66 , 67 ]. According to the SNP SIFT analysis, substitutions in the TNNT2 gene were the most remarkable variants ( Table 5 ).…”

Section: New-generation Sequencing Phenotypic Screening Oligogenic An...mentioning

confidence: 99%

“…at any age presents both opportunities and challenges in clinical medicine. Our studies on hereditary cardiomyopathy [ 65 , 66 ], familial hypercholesterolemia [ 47 ], and MODY [ 13 ] are an attempt to step up to this challenge. The situation with MFDs is somewhat more complicated, since changes in the genome affect disease etiology, with a large set of genes predisposing to disease (the additivity phenomenon).…”

Section: New-generation Sequencing Phenotypic Screening Oligogenic An...mentioning

confidence: 99%

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Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Glotov

Chernov

Glotov

2023

JPM

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Today, whole-exome sequencing (WES) is used to conduct the massive screening of structural and regulatory genes in order to identify the allele frequencies of disease-associated polymorphisms in various populations and thus detect pathogenic genetic changes (mutations or polymorphisms) conducive to malfunctional protein sequences. With its extensive capabilities, exome sequencing today allows both the diagnosis of monogenic diseases (MDs) and the examination of seemingly healthy populations to reveal a wide range of potential risks prior to disease manifestation (in the future, exome sequencing may outpace costly and less informative genome sequencing to become the first-line examination technique). This review establishes the human genetic passport as a new WES-based clinical concept for the identification of new candidate genes, gene variants, and molecular mechanisms in the diagnosis, prediction, and treatment of monogenic, oligogenic, and multifactorial diseases. Various diseases are addressed to demonstrate the extensive potential of WES and consider its advantages as well as disadvantages. Thus, WES can become a general test with a broad spectrum pf applications, including opportunistic screening.

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Section: New-generation Sequencing Phenotypic Screening Oligogenic An...mentioning

confidence: 99%

Section: New-generation Sequencing Phenotypic Screening Oligogenic An...mentioning

confidence: 99%

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Glotov

Chernov

Glotov

2023

JPM

View full text Add to dashboard Cite

show abstract

The Specifics of Hypertrophic Cardiomyopathy Clinical Presentation in Patients With Various Mutations of Sarcomere Genes

Cited by 1 publication

References 15 publications

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

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