MYH7 in cardiomyopathy and skeletal muscle myopathy

Y Gao, L Peng, C Zhao - Molecular and Cellular Biochemistry, 2024 - Springer
Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain
(myosin-7), has attracted considerable interest as a result of its fundamental functions in …

Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems

ZR Gregorich, Y Zhang, TJ Kamp… - Circulation: Genomic …, 2024 - Am Heart Assoc
RBM20 (RNA-binding motif protein 20) is a vertebrate-and muscle-specific RNA-binding
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …

Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria

E Monda, G De Michele, G Diana, F Verrillo, M Rubino… - Diagnostics, 2024 - mdpi.com
Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder
characterized by prominent trabeculae protruding into the left ventricular lumen and deep …

Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction

K Grebur, B Mester, BA Fekete, AR Kiss… - Frontiers in …, 2024 - frontiersin.org
Introduction The genotype of symptomatic left ventricular noncompaction phenotype (LVNC)
subjects with preserved left ventricular ejection fraction (LVEF) and its effect on clinical …

Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and …

EK Biernacka, T Osadnik, ZT Bilińska… - Polish Heart …, 2024 - journals.viamedica.pl
According to the latest guidelines of European and American medical societies, genetic
testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting …

RBM20 nucleotide sequence variant in a family with a dilated phenotype of left ventricular non-compaction

OV Kulikova, RP Myasnikov… - Cardiovascular …, 2023 - cardiovascular.elpub.ru
Aim. To demonstrate two generations of a family with a progressive course of left ventricular
non-compaction (LVNC) and the presence of a RBM20 gene variant. Material and methods …

Impaired Cardiomyocyte Maturation Leading to DCM: A Case Report and Literature Review

L Zhou, J Huang, H Li, H Duan, Y Hua, Y Guo, K Zhou… - Medicina, 2023 - mdpi.com
Background: The maturation of cardiomyocytes is a rapidly evolving area of research within
the field of cardiovascular medicine. Understanding the molecular mechanisms underlying …

Вариант нуклеотидной последовательности гена RBM20 в семье с дилатационным фенотипом некомпактного миокарда левого желудочка

ОВ Куликова, РП Мясников… - …, 2023 - cardiovascular.elpub.ru
Вариант нуклеотидной последовательности гена RBM20 в семье с дилатационным
фенотипом некомпактного миокарда левого желудочка | Куликова | Кардиоваскулярная …