Netherlands Heart Journal, 2023 Introduction The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database.
L. Marsili +40 more
semanticscholar +1 more source
Novel Mutations in β-MYH7 Gene in Indian Patients With Dilated Cardiomyopathy
CJC Open, 2022 Background: Heart failure is a hallmark of severe hypertrophic cardiomyopathy and dilated cardiomyopathy (DCM). Several mutations in the β-MYH7 gene lead to hypertrophic cardiomyopathy.
Deepa Selvi Rani, PhD +7 more
doaj +1 more source
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy [PDF]
, 2019 The mosaic distribution of cytochrome c oxidase(+) (COX+) and COX - muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual.
Doll, S. +5 more
core +3 more sources
The expression of MYH7 gene in femur, humeral muscle and back muscle tissues of fattening lambs of the Kermani breed [PDF]
مجله بیوتکنولوژی کشاورزی, 2023 ObjectiveSkeletal muscles make up about 40% of body weight and are responsible for many functions, such as maintaining required energy, maintaining body condition, and protecting tissues. Normal growth of skeletal muscles is a prerequisite for animals to
Samira Shokri +3 more
doaj +1 more source
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]
, 2019 Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore +8 more
core +1 more source
A bioprinted cardiac patch composed of cardiac-specific extracellular matrix and progenitor cells for heart repair [PDF]
, 2018 Congenital heart defects are present in 8 of 1000 newborns and palliative surgical therapy has increased survival. Despite improved outcomes, many children develop reduced cardiac function and heart failure requiring transplantation.
Bejleri, Donald +6 more
core +1 more source
Silencing of MYH7 ameliorates disease phenotypes in human iPSC-cardiomyocytes [PDF]
Physiological Genomics, 2020 Allele-specific RNA silencing has been shown to be an effective therapeutic treatment in a number of diseases, including neurodegenerative disorders. Studies of allele-specific silencing in hypertrophic cardiomyopathy (HCM) to date have focused on mouse models of disease. We here examine allele-specific silencing in a human-cell model of HCM.
Alexandra Dainis +12 more
openaire +4 more sources
SNPs within the beta myosin heavy chain (MYH7) and the pyruvate kinase muscle (PKM2) genes in horse
Italian Journal of Animal Science, 2010 Two highly expressed skeletal muscle genes (the MYH7 gene encoding the myosin heavy chain slow/β-cardiac isoform and the PKM2 gene encoding the pyruvate kinase muscle isoforms) were investigated with the objective to identify DNA markers in horses ...
Vincenzo Russo +4 more
doaj +1 more source
Hypertrophic cardiomyopathy MYH7 mutation R723G alters mRNA secondary structure [PDF]
Physiological Genomics, 2020 Point mutation R723G in the MYH7 gene causes hypertrophic cardiomyopathy (HCM). Heterozygous patients with this mutation exhibit a comparable allelic imbalance of the MYH7 gene. On average 67% of the total MYH7 mRNA are derived from the MYH7R723G-allele and 33% from the MYH7WT allele.
J. Rose, T. Kraft, B. Brenner, J. Montag
openaire +2 more sources
Clinical exome performance for reporting secondary genetic findings. [PDF]
, 2014 BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P +6 more
core +1 more source