Results 11 to 20 of about 13,305 (193)
Natural History of MYH7-Related Dilated Cardiomyopathy [PDF]
Journal of the American College of Cardiology, 2022 Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described.We sought to determine the phenotype and prognosis of MYH7-related DCM.
Fernando de Frutos +107 more
core +30 more sources
A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia
Clinical Case ReportsKey Clinical Message. A 15‐year‐old girl developed inherited cardiomyopathy and macrothrombocytopenia revealing pathogenic variants of both MYH7 and MYH9 genes.
Yasuhiro Ikawa +9 more
doaj +4 more sources
Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly [PDF]
Circulation: Cardiovascular Genetics, 2011 Background— Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7
Postma AV +15 more
openaire +4 more sources
A rare mutation in MYH7 gene occurs with overlapping phenotype
Biochemical and Biophysical Research Communications, 2015 Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific molecular pathobiological processes that cause these different phenotypes remains unexplained. We describe three members of a family with an autosomal dominant mutation in the distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] displaying a complex phenotype ...
RUGGIERO, LUCIA +10 more
openaire +6 more sources
Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy [PDF]
Frontiers in Physiology, 2018 Hypertrophic Cardiomyopathy (HCM) has been related to many different mutations in more than 20 different, mostly sarcomeric proteins. While development of the HCM-phenotype is thought to be triggered by the different mutations, a common mechanism remains
Judith Montag +18 more
doaj +2 more sources
Allele-Selective Knockdown of MYH7 Using Antisense Oligonucleotides [PDF]
Molecular Therapy: Nucleic Acids, 2020 Hundreds of dominant-negative myosin mutations have been identified that lead to hypertrophic cardiomyopathy, and the biomechanical link between mutation and disease is heterogeneous across this patient population. To increase the therapeutic feasibility
Brian R. Anderson +20 more
doaj +3 more sources
HeliyonMitral valve (MV) leaflet elongation is recognized as a primary phenotypic expression of hypertrophic cardiomyopathy (HCM) that contributes to obstruction.
Xinli Guo +7 more
doaj +2 more sources
Stem Cell Research, 2017 Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the whole blood of a 43-year-old male with hypertrophic cardiomyopathy (HCM) who carries the pathogenic variant p.Val698Ala in beta-myosin
Samantha Barratt Ross +3 more
doaj +2 more sources
Frontiers in Cardiovascular Medicine, 2022 Cardiomyopathies are a group of common heart disorders that affect numerous people worldwide. Left ventricular non-compaction (LVNC) is a structural disorder of the ventricular wall, categorized as a type of cardiomyopathy that mostly caused by genetic ...
Mahdi Hesaraki +16 more
doaj +2 more sources
Inhibition of mTOR or MAPK ameliorates vmhcl/myh7 cardiomyopathy in zebrafish [PDF]
JCI Insight, 2021 Myosin heavy chain 7 (MYH7) is a major causative gene for hypertrophic cardiomyopathy, but the affected signaling pathways and therapeutics remain elusive.
Haisong Bu +8 more
doaj +3 more sources