Results 21 to 30 of about 13,305 (193)

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   +4 more sources

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

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

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   +3 more sources

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients [PDF]

, 2016
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation ...
Fiorillo, C., M. Grandis, C. Rodolico, E. Mercuri, Fanin, M., Messina, S, E. Pegoraro, Mercuri, E, Toscano, A., Tasca, G., Trovato, R., Santoro, L, Italian Network on Congenital Myopathies, ., M. Mora, Morandi, L, Minetti, C., Petrucci, A, Mongini, Tiziana Enrica, Massa, R., Nigro, V., Mongini, T, E. Bertini, L. Maggi, R. Trovato, Bertini, E., M. Savarese, T. Mongini, BELLO, LUCA, null null, Musumeci, O, Rodolico, C, S. Gibertini, Brisca, G., PEGORARO, ELENA, SANTORO, LUCIO, Grandis, M, D'AMICO, ANNA MARIA, O. Musumeci, A. D’Amico, Messina, S., M. Fanin, Vercelli, Liliana, Vercelli, L., Ruggiero, L, A. Toscano, Bruno, C., R. Massa, D. Cassandrini, FIORILLO, CHIARA, Pegoraro, E., Mora, M, L. Santoro, Cassandrini, D, F. Trucco, Ruggiero, L., Sframeli, M., C. Fiorillo, Grandis, M., M. Pane, M. Pedemonte, Mora, M., Pane, M, Rodolico, C., Petrucci, A., Bruno, C, Maggi, L, Santoro, L., D'Amico, A., Pedemonte, M, MINETTI, CARLO, Fanin, M, Bello, L, Savarese, M, Maggi, L., FANIN, MARINA, Broda, P, GRANDIS, MARINA, Pane, M., Mercuri, E., A. Petrucci, Astrea, G., Trucco, F., Tasca, G, Vita, G. L., C. Minetti, Bello, L., Fiorillo, C, Cassandrini, D., G. Brisca, F. M. Santorelli, Vita, GL, Vercelli, L, Toscano, A, Gibertini, S, G. L. Vita, C. Bruno, Santorelli, F. M., D'Amico, A, Trucco, F, RUGGIERO, LUCIA, Sframeli, M, V. Nigro, S. Messina, Minetti, C, Broda, P., Santorelli, FM, Massa, R, L. Ruggiero, L. Bello, G. Astrea, P. Broda, Gibertini, S., Savarese, M., Nigro, V, Musumeci, O., Bertini, E, Morandi, L., L. Vercelli, Pegoraro, E, Brisca, G, M. Sframeli, G. Tasca, Mongini, T., Trovato, R, Astrea, G, L. Morandi, Pedemonte, M., Pegoraro E., Petrucci A., Bello L., Messina S., Rodolico C., Trovato R., Vita G. L., Pedemonte M., Fanin M., Trucco F., Savarese M., Mongini T., TOSCANO, Antonio, Toscano A., Morandi L., Gibertini S., Minetti C., VITA, GIANLUCA, Bruno C., Brisca G., Cassandrini D., Astrea G., Mercuri E., Broda P., Grandis M., MESSINA, Sonia, Santoro L., Fiorillo C., Mora M., Ruggiero L., MUSUMECI, Olimpia, Maggi L., Bertini E., RODOLICO, Carmelo, Nigro V., SFRAMELI, MARIA, Pane M., Musumeci O., Vercelli L., D'Amico A., Santorelli F. M., Massa R., Sframeli M., Tasca G.   +170 more
core   +8 more sources

A Family with Myh7 Mutation and Different Forms of Cardiomyopathies

Biomedicines, 2023
Background: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. In this study, we describe a variant in the MHY7 gene, segregating in a family having three different phenotypes of cardiomyopathies.
Bianca Iulia Catrina, Florina Batar, Georgiana Baltat, Cornel Ioan Bitea, Andreea Puia, Oana Stoia, Sorin Radu Fleacă, Minodora Teodoru   +7 more
openaire   +3 more sources

Rapid diagnostic testing of a neonate in a family with hypertrophic cardiomyopathy

Clinical and Experimental Obstetrics & Gynecology, 2020
Familial hypertrophic cardiomyopathy (HCM) is a common but severe genetic disease. A pregnant woman with familial HCM was referred to our hospital as both the couple and their families were concerned that the baby would later develop HCM.
H. Ueda, T. Miyamoto, Y. Tsurusaki, G. Minase, N. Matsumoto, K. Sengoku   +5 more
doaj   +1 more source

Impaired muscle morphology in a Drosophila model of myosin storage myopathy was suppressed by overexpression of an E3 ubiquitin ligase

Disease Models & Mechanisms, 2020
Myosin is vital for body movement and heart contractility. Mutations in MYH7, encoding slow/β-cardiac myosin heavy chain, are an important cause of hypertrophic and dilated cardiomyopathy, as well as skeletal muscle disease. A dominant missense mutation (
Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, Michaela Norum, Katarina Ejeskär, Homa Tajsharghi   +5 more
doaj   +1 more source

The protective effect of Apelin-13 against cardiac hypertrophy through activating the PI3K-AKT-mTOR signaling pathway [PDF]

Iranian Journal of Basic Medical Sciences, 2023
Objective(s): To determine the protective effect of Apelin-13 on cardiac hypertrophy through activating the PI3K-AKT-mTOR signaling pathway.Materials and Methods: The phenylephrine-induced cardiomyocyte hypertrophy model was established in H9C2 cells in ...
Yu Peng, Ruan Jingming, Chen Shaowen, Huang Feng, Zhu Pengli   +4 more
doaj   +1 more source

Low-frequency maternal novel MYH7 mosaicism mutation in recurrent fetal-onset severe left ventricular noncompaction: a case report

Frontiers in Pediatrics, 2023
BackgroundLeft ventricular noncompaction (LVNC) is a rare inherited cardiomyopathy with a broad phenotypic spectrum. The genotype-phenotype correlations in fetal-onset LVNC have not yet been fully elucidated.
Hiroshi Kawamura, Masamichi Ikawa, Keiichi Hirono, Junya Kimura, Takashi Okuno, Masao Kawatani, Masao Kawatani, Kunihiro Inai, Yukiko Hata, Naoki Nishida, Yoshio Yoshida   +10 more
doaj   +1 more source

Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy

, 2021
Purpose: ClinGen provides gene-specific guidance for interpretation of sequence variants in MYH7. We assessed laboratory and clinical impact of reclassification by the American College of Medical Genetics and Genomics-Association for Molecular Pathology (
Belinda Chong, Ivan Macciocca, Lunke, Sebastian, Tan, Tiong Y, Chong, Belinda, Tiong Y. Tan, Sebastian Lunke, James, Paul A, Pantaleo, Sarah-Jane, Sarah-Jane Pantaleo, Richmond, Christopher M, Christopher M. Richmond, Macciocca, Ivan, Paul A. James   +13 more
core   +1 more source