Results 211 to 220 of about 18,051 (238)

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants

Neuromuscular Disorders, 2016
TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac ...
Patricio, Brand, P James B, Dyck, Jie, Liu, Sarah, Berini, Duygu, Selcen, Margherita, Milone   +5 more
openaire   +2 more sources

Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration

Proceedings of the National Academy of Sciences of the United States of America
Significance Hypertrophic cardiomyopathy is the most common genetic heart disease and is linked to over 200 mutations in the sarcomeric protein β-myosin heavy chain (MYH7).
Soah Lee, A. V. Vander Roest, Cheavar A. Blair, Kerry Kao, Samantha B Bremner, M. Childers, Divya Pathak, P. Heinrich, Daniel Lee, Orlando Chirikian, Saffie Mohran, Brock Roberts, Jacqueline E. Smith, J. W. Jahng, David T. Paik, Joseph C. Wu, R. Gunawardane, K. Ruppel, David L. Mack, Beth l. Pruitt, Michael Regnier, Sean M. Wu, J. Spudich, Daniel Bernstein   +23 more
semanticscholar   +1 more source

The miRNA‐143‐3p–Sox6–Myh7 pathway is altered in obesogenic diet‐induced cardiac hypertrophy

Experimental Physiology, 2022
What is the central question of this study? What is the effect of an obesogenic diet on the expression of microRNAs (miRNAs) involved in cardiac hypertrophy in female mice? What is the main finding and its importance?
Tábatha de Oliveira Silva, C. Lino, Juliane B Miranda, Camila S Balbino-Silva, Guilherme Lunardon, V. Lima, Leonardo Jensen, J. Donato, M. Irigoyen, M. Barreto-Chaves, G. Diniz   +10 more
semanticscholar   +1 more source

Endogenous slow and fast myosin dynamics in myofibers isolated from mice expressing GFP-Myh7 and Kusabira Orange-Myh1.

American Journal of Physiology - Cell Physiology, 2022
Skeletal muscle consists of slow and fast myofibers in which different myosin isoforms are expressed. Approximately 300 myosins form a single thick filament in the myofibrils, where myosin is continuously exchanged.
K. Ojima, Masahiro Kigaki, Emi Ichimura, Takahiro Suzuki, Ken Kobayashi, S. Muroya, T. Nishimura   +6 more
semanticscholar   +1 more source

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model.

Journal of Visualized Experiments, 2022
Familial hypertrophic cardiomyopathy (HCM, OMIM: 613690) is the most common cardiomyopathy in China. However, the underlying genetic etiology of HCM remains elusive.
Yundan Xia, J. Hu, Xiang Li, Shuang-Shuang Zheng, Ge Wang, Song Tan, Zengxiao Zou, Qiong Ling, F. Yang, Xiaoping Fan   +9 more
semanticscholar   +1 more source

New phenotype and pathology features in MYH7-related distal myopathy

Neuromuscular Disorders, 2012
Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the human slow-β myosin heavy chain, MYH7. Most reports describe it as a mild, early onset myopathy with involvement usually restricted to foot extensors, hand finger extensors and neck flexors, and unspecific findings on muscle biopsy.
Tasca, Giorgio, Ricci, Enzo, Penttilä, S, Monforte, Mauro, Giglio, Vincenzo, Ottaviani, Pierfrancesco, Camastra, G, Silvestri, Gabriella, Udd, B.   +8 more
openaire   +2 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, Fiorillo C, Gibertini S, De Stefano F, MANGANELLI, FIORE, IODICE, ROSA, Vitale F, Zanotti S, GALDERISI, MAURIZIO, Mora M, SANTORO, LUCIO   +10 more
openaire   +5 more sources

Abstract Mo093: Rescue of Desmin Insufficiency Restores Contractile Function in Cardiomyocytes with MYH7 E848G Dilated Cardiomyopathy Variant

Circulation Research
Dilated cardiomyopathy (DCM), characterized by systolic dysfunction, is a significant cause of heart failure. Myosin heavy chain 7 ( MYH7 ) pathogenic variants are common causes of DCM; however, no specific disease-modifying therapy for MYH7 DCM ...
Alexander M. Loiben, Wei-Ming Chien, Ashley McKinstry, Dania Ahmed, Kai-Chun Yang   +4 more
semanticscholar   +1 more source

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

Neuromuscular Disorders, 2007
Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy ...
Overeem, S., Schelhaas, H.J., Blijham, P.J., Grootscholten, M.I., Laak, H.J. ter, Timmermans, J., Wijngaard, A. van de, Zwarts, M.J.   +7 more
openaire   +3 more sources

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

European journal of human genetics : EJHG, 2005
Familial hypertrophic cardiomyopathy (FHC) is, in most cases, a disease of the sarcomere, caused by a mutation in one of 10 known sarcomere disease genes. More than 266 mutations have been identified since 1989. The FHC disease gene first characterized MYH7, encodes the cardiac beta-myosin heavy chain, and contains more than 115 of these mutations ...
Hougs, Lotte, Havndrup, Ole, Bundgaard, Henning, Køber, Lars, Vuust, Jens, Larsen, Lars Allan, Christiansen, Michael, Andersen, Paal Skytt   +7 more
openaire   +2 more sources