Results 41 to 50 of about 18,051 (238)

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source

Differential expression of skeletal muscle genes following administration of clenbuterol to exercised horses. [PDF]

, 2016
BackgroundClenbuterol, a beta2-adrenergic receptor agonist, is used therapeutically to treat respiratory conditions in the horse. However, by virtue of its mechanism of action it has been suggested that clenbuterol may also have repartitioning affects in
Chouicha, Nadira, Harrison, Linda M, Kass, Phil H, Knych, Heather K, Steinmetz, Stacy J   +4 more
core   +1 more source

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy

BMC Cardiovascular Disorders, 2020
Background Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3)
Lazar Velicki, Djordje G. Jakovljevic, Andrej Preveden, Miodrag Golubovic, Marija Bjelobrk, Aleksandra Ilic, Snezana Stojsic, Fausto Barlocco, Maria Tafelmeier, Nduka Okwose, Milorad Tesic, Paul Brennan, Dejana Popovic, Arsen Ristic, Guy A. MacGowan, Nenad Filipovic, Lars S. Maier, Iacopo Olivotto   +17 more
doaj   +1 more source

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. [PDF]

PLoS ONE, 2017
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding ...
Shiv Kumar Viswanathan, Heather K Sanders, James W McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A Jamil Tajik, Sakthivel Sadayappan   +6 more
doaj   +1 more source

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations

Stem Cell Research, 2021
MYH7 heterozygous mutations are common genetic causes of hypertrophic cardiomyopathy (HCM). HCM is characterized by hypertrophy of the left ventricle and diastolic dysfunction.
Xu Cao, James W.S. Jahng, Chelsea Lee, Yanjun Zha, Matthew T. Wheeler, Karim Sallam, Joseph C. Wu   +6 more
doaj   +1 more source

Single muscle fiber proteomics reveals unexpected mitochondrial specialization [PDF]

, 2015
Mammalian skeletal muscles are composed of multinucleated cells termed slow or fast fibers according to their contractile and metabolic properties. Here, we developed a high-sensitivity workflow to characterize the proteome of single fibers.
A. S., Deshmukh, Cancellara, Pasqua, I., Moretti, M., Mann, M., Zeiler, Murgia, Marta, N., Nagaraj, Reggiani, Carlo, Schiaffino, Stefano   +8 more
core   +1 more source

End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series

Internal medicine, 2023
The MYH7 R453 variant has been identified in inherited hypertrophic cardiomyopathy (HCM) and is associated with sudden death and a poor prognosis.
Susumu Naito, Shuichiro Higo, Satoshi Kameda, Shou Ogawa, Tomoka Tabata, Y. Akazawa, D. Nakamura, K. Nakamoto, F. Sera, Yuki Kuramoto, Y. Asano, S. Hikoso, S. Miyagawa, Y. Sakata   +13 more
semanticscholar   +1 more source

MYH7 mutation and non-isolated noncompaction

Journal of Cardiovascular Surgery and Heart Diseases, 2019
In a recent article, Hirano et al. reported about Ebstein’s anomaly, non-compaction/left ventricular hypertrabeculation (LVHT), and ventricular septal defect (VSD) in a single patient carrying a MYH7 mutation [1]. We have the following comments and concerns.
Josef Finsterer, Claudia Stöllberger
openaire   +1 more source

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Orphanet Journal of Rare Diseases, 2022
Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac ...
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr   +9 more
doaj   +1 more source

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +1 more source