Results 1 to 10 of about 17,974 (180)

Gut microbiota-mediated betaine regulates skeletal muscle fiber type transition by affecting m6A RNA methylation and Myh7 expression [PDF]

Gut Microbes
Skeletal muscle fiber composition is essential for maintaining muscle function and overall health. Growing evidence underscores the pivotal role of the gut-muscle axis in mediating the influence of gut microbiota on skeletal muscle development.
Chao Yan, Yilong Yao, Zhaobo Zhang, Fanqinyu Li, Danyang Fan, Wen Liu, Xinhao Fan, Lingna Xu, Yanwen Liu, Shilong Wang, Mengling Hu, Yalan Yang, Zhonglin Tang   +12 more
doaj   +3 more sources

A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy

Frontiers in Bioscience-Scholar
Background: Hypertrophic cardiomyopathy is the most frequent autosomal dominant disease, yet due to genetic heterogeneity, incomplete penetrance, and phenotype variability, the prognosis of the disease course in pathogenic variant carriers remains an ...
Maria V. Golubenko, Elena N. Pavlyukova, Ramil R. Salakhov, Oksana A. Makeeva, Konstantin V. Puzyrev, Oleg S. Glotov, Valery P. Puzyrev, Maria S. Nazarenko   +7 more
doaj   +2 more sources

MYH7 R453C induced cardiac remodelling via activating TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB signalling pathways

Open Biology
Hypertrophic cardiomyopathy (HCM) is a monogenic cardiac disorder commonly induced by sarcomere gene mutations. However, the mechanism for HCM is not well defined.
Lingyu Wang, Linquan Li, Dazhong Zhao, Hongming Yuan, Huanyu Zhang, Jiahuan Chen, Daxin Pang, Yi Lu, Hongsheng Ouyang   +8 more
doaj   +2 more sources

MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients

Cardiogenetics, 2022
Cardiomyopathies (CMPs) are a heterogeneous group of diseases, frequently genetic, affecting the heart muscle. The symptoms range from asymptomatic to dyspnea, arrhythmias, syncope, and sudden cardiac death.
Teemu Vepsäläinen, Tiina Heliö, Catalina Vasilescu, Laura Martelius, Sini Weckström, Juha Koskenvuo, Anita Hiippala, Tiina Ojala   +7 more
doaj   +2 more sources

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

BMC Cardiovascular Disorders, 2023
Background The MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skeletal myopathies or a ...
Niloofar Naderi, Neda Mohsen-Pour, Yalda Nilipour, Maryam Pourirahim, Majid Maleki, Samira Kalayinia   +5 more
doaj   +2 more sources

MYH7 mutation is associated with mitral valve leaflet elongation in patients with obstructive hypertrophic cardiomyopathy

Heliyon
Mitral valve (MV) leaflet elongation is recognized as a primary phenotypic expression of hypertrophic cardiomyopathy (HCM) that contributes to obstruction.
Xinli Guo, Manyun Huang, Changpeng Song, Changrong Nie, Xinxin Zheng, Zhou Zhou, Shuiyun Wang, Xiaohong Huang   +7 more
doaj   +2 more sources

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy

BMC Medical Genomics
Background Pathogenic variants of MYH7, which encodes the beta-myosin heavy chain protein, are major causes of dilated and hypertrophic cardiomyopathy. Methods In this study, we used whole-genome sequencing data to identify MYH7 variants in 397 patients ...
Oc-Hee Kim, Jihyun Kim, Youngjun Kim, Soyoung Lee, Beom Hee Lee, Bong-Jo Kim, Hyun-Young Park, Mi-Hyun Park   +7 more
doaj   +2 more sources

Metabolic remodeling and cardiac dysfunction in left ventricular noncompaction: Insights from the MYH7 Q315R model. [PDF]

PLoS ONE
Left ventricular noncompaction (LVNC) is a form of cardiomyopathy characterized by excessive trabeculation and a thin compacted myocardial layer. Variants in MYH7, which encodes the β-myosin heavy chain, are among the most commonly identified genetic ...
Shinya Takarada, Yukiko Hata, Keisuke Yaku, Hironori Izumi, Kazuki Fujii, Masaaki Omura, Ichiro Takasaki, Kaori Tsuboi, Mako Okabe, Nariaki Miyao, Hideyuki Nakaoka, Keijiro Ibuki, Sayaka Ozawa, Takashi Nakagawa, Hideyuki Hasegawa, Shojiro Ichimata, Naoki Nishida, Hisashi Mori, Yuko Yanagibashi, Keizo Takao, Fukiko Ichida, Keiichi Hirono   +21 more
doaj   +2 more sources

A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction

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, Mahdi Hesaraki, Ugur Bora, Ugur Bora, Sara Pahlavan, Najmeh Salehi, Najmeh Salehi, Seyed Ahmad Mousavi, Maryam Barekat, Seyed Javad Rasouli, Hossein Baharvand, Hossein Baharvand, Gunes Ozhan, Gunes Ozhan, Mehdi Totonchi, Mehdi Totonchi, Mehdi Totonchi   +16 more
doaj   +2 more sources

Heterozygous <i>MYH7</i> R403Q mutation impairs left atrial mitochondrial function in a Yucatan mini-pig model of genetic nonobstructive hypertrophic cardiomyopathy. [PDF]

J Appl Physiol (1985)
Hypertrophic cardiomyopathy (HCM) can be caused by a MYH7 R403Q gene mutation, which drives pathological cardiac remodeling and may ultimately lead to heart failure. Here we sought to examine the effects of this mutation on cardiac mitochondrial function
Krause AA, Kelty TJ, Meers GM, Russell AJ, Evanchik MJ, Barthel B, Emter CA, Rector RS.   +7 more
europepmc   +2 more sources