Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

R Walsh, JA Offerhaus, R Tadros… - Nature Reviews …, 2022 - nature.com
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
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 …

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 …

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 …

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies

A Lipov, SJ Jurgens, F Mazzarotto, M Allouba… - Nature cardiovascular …, 2023 - nature.com
Discrete categorization of Mendelian disease genes into dominant and recessive models
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 …

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 …

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 …

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 …

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 …