Cargando…

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia

Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been des...

Descripción completa

Detalles Bibliográficos
Autores principales:	Meshkov, Alexey, Ershova, Alexandra, Kiseleva, Anna, Zotova, Evgenia, Sotnikova, Evgeniia, Petukhova, Anna, Zharikova, Anastasia, Malyshev, Pavel, Rozhkova, Tatyana, Blokhina, Anastasia, Limonova, Alena, Ramensky, Vasily, Divashuk, Mikhail, Khasanova, Zukhra, Bukaeva, Anna, Kurilova, Olga, Skirko, Olga, Pokrovskaya, Maria, Mikova, Valeriya, Snigir, Ekaterina, Akinshina, Alexsandra, Mitrofanov, Sergey, Kashtanova, Daria, Makarov, Valentin, Kukharchuk, Valeriy, Boytsov, Sergey, Yudin, Sergey, Drapkina, Oxana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7825309/ https://www.ncbi.nlm.nih.gov/pubmed/33418990 http://dx.doi.org/10.3390/genes12010066

Ejemplares similares

Cystic Fibrosis Polymorphic Variants in a Russian Population
por: Kiseleva, Anna, et al.
Publicado: (2020)

A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
por: Myasnikov, Roman, et al.
Publicado: (2022)

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region
por: Ramensky, Vasily E., et al.
Publicado: (2021)

The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
por: Myasnikov, Roman, et al.
Publicado: (2021)

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases
por: Kiseleva, Anna V., et al.
Publicado: (2020)

Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report
por: Blokhina, Anastasia V., et al.
Publicado: (2022)

A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy
por: Myasnikov, Roman P., et al.
Publicado: (2022)

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases
por: Sotnikova, Evgeniia A., et al.
Publicado: (2022)

Genetic landscape in Russian patients with familial left ventricular noncompaction
por: Meshkov, Alexey N., et al.
Publicado: (2023)

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study
por: Blokhina, Anastasia V., et al.
Publicado: (2023)

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
por: Brodehl, Andreas, et al.
Publicado: (2021)

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy
por: Kulikova, Olga, et al.
Publicado: (2021)

GWAS reveals genetic basis of a predisposition to severe COVID-19 through in silico modeling of the FYCO1 protein
por: Gusakova, Mariya S., et al.
Publicado: (2023)

Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype
por: Limonova, Alena S., et al.
Publicado: (2021)

Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey
por: Limonova, Alena S., et al.
Publicado: (2022)

Gut microbiota and diet in patients with different glucose tolerance
por: Egshatyan, Lilit, et al.
Publicado: (2015)

Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels
por: Khlebus, Eleonora, et al.
Publicado: (2019)

Subfractional Spectrum of Serum Lipoproteins and Gut Microbiota Composition in Healthy Individuals
por: Kashtanova, Daria A., et al.
Publicado: (2021)

Classification of Deprivation Indices That Applied to Detect Health Inequality: A Scoping Review
por: Zelenina, Anastasia, et al.
Publicado: (2022)

Characteristics of Composite Deprivation Indices Used in Public Health: A Scoping Review Protocol
por: Zelenina, Anastasia, et al.
Publicado: (2022)

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study
por: Meshkov, Alexey N., et al.
Publicado: (2021)

Single-Cell Gene Expression Analysis Revealed Immune Cell Signatures of Delta COVID-19
por: Shaymardanov, Abusaid M., et al.
Publicado: (2022)

Genomic Signatures of Positive Selection in Human Populations of the OXT, OXTR, AVP, AVPR1A and AVR1B Gene Variants Related to the Regulation of Psychoemotional Response
por: Bakoev, Siroj Yu., et al.
Publicado: (2023)

Growth Hormone, Insulin-Like Growth Factor-1, Insulin Resistance, and Leukocyte Telomere Length as Determinants of Arterial Aging in Subjects Free of Cardiovascular Diseases
por: Strazhesko, Irina D., et al.
Publicado: (2017)

Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study
por: Zaklyazminskaya, Elena, et al.
Publicado: (2019)

Analyzing Successful Aging and Longevity: Risk Factors and Health Promoters in 2020 Older Adults
por: Kashtanova, Daria A., et al.
Publicado: (2022)

Diversities in the Gut Microbial Patterns in Patients with Atherosclerotic Cardiovascular Diseases and Certain Heart Failure Phenotypes
por: Drapkina, Oxana M., et al.
Publicado: (2022)

Associations of SNPs of the ADIPOQ Gene with Serum Adiponectin Levels, Unstable Angina, and Coronary Artery Disease
por: Smetnev, Stepan, et al.
Publicado: (2019)

Modification Approaches of Polyphenylene Oxide Membranes to Enhance Nanofiltration Performance
por: Dmitrenko, Mariia, et al.
Publicado: (2023)

Determinants of COVID-19 vaccine hesitancy and resistance in Russia
por: Roshchina, Yana, et al.
Publicado: (2022)

The cascade of HIV care in Russia, 2011–2013
por: Pokrovskaya, Anastasia, et al.
Publicado: (2014)

Mortality and survival in nonagenarians during the COVID-19 pandemic: Unstable equilibrium of aging
por: Kashtanova, Daria A., et al.
Publicado: (2023)

Effects of tobacco control policy on cardiovascular morbidity and mortality in Russia
por: Gambaryan, Marine, et al.
Publicado: (2018)

Lipoprotein Profile in Populations from Regions of the Russian Federation: ESSE-RF Study
por: Metelskaya, Victoria A., et al.
Publicado: (2022)

Suboptimal control of lipid levels: results from the non-interventional Centralized Pan-Russian Survey of the Undertreatment of Hypercholesterolemia II (CEPHEUS II)
por: Boytsov, Sergey, et al.
Publicado: (2017)

Carotid and Aortic Stiffness in Patients with Heterozygous Familial Hypercholesterolemia
por: Ershova, Alexandra I., et al.
Publicado: (2016)

Differential regulatory effect of progesterone on the proliferation and apoptosis of uterine leiomyoma tissue explants and primary leiomyoma cell cultures
por: Voronin, Dmitry, et al.
Publicado: (2021)

Factors Associated with Anxiety and Depressive Symptoms in 2775 Patients with Arterial Hypertension and Coronary Heart Disease: Results from the COMETA Multicenter Study
por: Pogosova, Nana, et al.
Publicado: (2021)

Comparative Safety and Efficacy of Left Atrial Appendage Occlusion with the Watchman Device and Amplatzer Cardiac Plug: Results of the Russian National Registry
por: Davtyan, Karapet, et al.
Publicado: (2020)

Nanocomposite Materials Based on Polylactide and Gold Complex Compounds for Absorbed Dose Diagnostics in BNCT
por: Potseleev, Vladislav, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_dri5jt05knjhbcu3db0drt26bf