Results 31 to 40 of about 9,138 (204)

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

Prevalence of cardiac myosin-binding protein C3 mutations in Maine Coon cats with hypertrophic cardiomyopathy [PDF]

Veterinary World, 2022
Background and Aim: Hypertrophic cardiomyopathy (HCM) is a common heart problem that affects many cats. Although cats with HCM are symptomatic, some die suddenly or develop congestive heart failure.
Pratch Sukumolanan, Soontaree Petchdee
doaj   +1 more source

Unique Transcriptional Profile of Sustained Ligand-Activated Preconditioning in Pre- and Post-Ischemic Myocardium [PDF]

, 2013
BACKGROUND: Opioidergic SLP (sustained ligand-activated preconditioning) induced by 3–5 days of opioid receptor (OR) agonism induces persistent protection against ischemia-reperfusion (I-R) injury in young and aged hearts, and is mechanistically distinct
Ashton, Kevin J., Headrick, John P., Kiessling, Can J., Peart, Jason N., See Hoe, Louise E., Tupicoff, Amanda, Williams-Pritchard, Grant   +6 more
core   +3 more sources

Oxidative Stress in Dilated Cardiomyopathy Caused byMYBPC3Mutation [PDF]

Oxidative Medicine and Cellular Longevity, 2015
Cardiomyopathies can result from mutations in genes encoding sarcomere proteins includingMYBPC3, which encodes cardiac myosin binding protein-C (cMyBP-C). However, whether oxidative stress is augmented due to contractile dysfunction and cardiomyocyte damage inMYBPC3-mutated cardiomyopathies has not been elucidated. To determine whether oxidative stress
Lynch, T.L., Sivaguru, M., Velayutham, M., Cardounel, A.J., Michels, M., Barefield, D., Govindan, S., dos Remedios, C., van der Velden, J., Sadayappan, S.   +9 more
openaire   +4 more sources

Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus). [PDF]

, 2017
Hypertrophic cardiomyopathy (HCM) is the most common single gene inherited cardiomyopathy. In cats (Felix catus) HCM is even more prevalent and affects 16% of the outbred population and up to 26% in pedigree breeds such as Maine Coon and Ragdoll ...
Chan, J, Connolly, D J, Copeland, O, Daley, A, Marston, S B, Messer, A E   +5 more
core   +2 more sources

Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy [PDF]

JCI Insight, 2020
Mutations in cardiac myosin binding protein C (MyBP-C, encoded by MYBPC3) are the most common cause of hypertrophic cardiomyopathy (HCM). Most MYBPC3 mutations result in premature termination codons (PTCs) that cause RNA degradation and a reduction of MyBP-C in HCM patient hearts.
Adam S. Helms, Vi T. Tang, Thomas S. O’Leary, Sabrina Friedline, Mick Wauchope, Akul Arora, Aaron H. Wasserman, Eric D. Smith, Lap Man Lee, Xiaoquan W. Wen, Jordan A. Shavit, Allen P. Liu, Michael J. Previs, Sharlene M. Day   +13 more
openaire   +3 more sources

Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy. [PDF]

, 2014
BACKGROUND: Sarcomere protein mutations in hypertrophic cardiomyopathy induce subtle cardiac structural changes before the development of left ventricular hypertrophy (LVH).
Bassett, P, Bluemke, DA, Canter, CE, Captur, G, Day, SM, Elliott, PM, Esteban, MT, Ferreira, VM, Finocchiaro, G, Ho, CY, Li, C, Lopes, LR, McKenna, WJ, Mohun, TJ, Moon, JC, Muthurangu, V, Patel, V, Seidman, CE, Sherrid, MV   +18 more
core   +1 more source

MYBPC3 deficiency in cardiac fibroblasts drives their activation and contributes to fibrosis

Cell Death and Disease, 2022
Genetic mutations in the MYBPC3 gene encoding cardiac myosin binding protein C (cMyBP-C) are the most common cause of hypertrophic cardiomyopathy (HCM). Myocardial fibrosis (MF) plays a critical role in the development of HCM.
Xiaodong Zou, Hongsheng Ouyang, Feng Lin, Huanyu Zhang, Yang Yang, Daxin Pang, Renzhi Han, Xiaochun Tang   +7 more
doaj   +1 more source

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy

Cardiogenetics, 2021
Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate ...
Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman   +6 more
doaj   +1 more source

Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction [PDF]

, 2009
Background-Mutations in the MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), are a frequent cause of familial hypertrophic cardiomyopathy.
Carrier, L., Cate, F.J. ten, Dijk, S.J. van, Dooijes, D., Lamers, J.M.J., Michels, M., Remedios, C. dos, Schlossarek, S., Stienen, G.J.M., Velden, J. van der, Winegrad, S.   +10 more
core   +2 more sources