Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …
Mendelian disease but is now increasingly recognized as having a complex genetic …
Understanding the molecular basis of cardiomyopathy
ML Bang, J Bogomolovas… - American Journal of …, 2022 - journals.physiology.org
Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …
be caused by mutations in a wide range of proteins located in different cellular …
Investigation of candidate genes and mechanisms underlying obesity associated type 2 diabetes mellitus using bioinformatics analysis and screening of small drug …
G Prashanth, B Vastrad, A Tengli, C Vastrad… - BMC Endocrine …, 2021 - Springer
Background Obesity associated type 2 diabetes mellitus is a metabolic disorder; however,
the etiology of obesity associated type 2 diabetes mellitus remains largely unknown. There …
the etiology of obesity associated type 2 diabetes mellitus remains largely unknown. There …
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
A Muravyev, T Vershinina, P Tesner, G Sjoberg… - Orphanet Journal of …, 2022 - Springer
Background FLNC is one of the few genes associated with all types of cardiomyopathies, but
it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular …
it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular …
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Discrete categorization of Mendelian disease genes into dominant and recessive models
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
S Andreeva, O Chumakova, E Karelkina… - Frontiers in …, 2022 - frontiersin.org
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it
is associated with fatal complications. The clinical heterogeneity of HCM requires risk …
is associated with fatal complications. The clinical heterogeneity of HCM requires risk …
KLF15 loss-of-function mutation underlying atrial fibrillation as well as ventricular arrhythmias and cardiomyopathy
N Li, YJ Xu, HY Shi, CX Yang, YH Guo, RG Li, XB Qiu… - Genes, 2021 - mdpi.com
Atrial fibrillation (AF) represents the most common type of clinical cardiac arrhythmia and
substantially increases the risks of cerebral stroke, heart failure and death. Accumulating …
substantially increases the risks of cerebral stroke, heart failure and death. Accumulating …
Hereditary hypertrophic cardiomyopathy in children and young adults—The value of reevaluating and expanding gene panel analyses
E Fernlund, A Kissopoulou, H Green, JE Karlsson… - Genes, 2020 - mdpi.com
Introduction: Sudden cardiac death (SCD) and early onset cardiomyopathy (CM) in the
young will always lead to suspicion of an underlying genetic disorder. Incited by the rapid …
young will always lead to suspicion of an underlying genetic disorder. Incited by the rapid …
Integrated bioinformatics, network pharmacology, and artificial intelligence to predict the mechanism of celastrol against muscle atrophy caused by colorectal cancer
M Wu, Y Zhang - Frontiers in Genetics, 2022 - frontiersin.org
Muscle atrophy due to colorectal cancer severely reduces the quality of life and survival time
of patients. However, the underlying causative mechanisms and therapeutic agents are not …
of patients. However, the underlying causative mechanisms and therapeutic agents are not …
RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart
Y Vakhrushev, A Kozyreva, A Semenov, P Sokolnikova… - Genes, 2021 - mdpi.com
RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes,
and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to …
and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to …