Results 51 to 60 of about 9,138 (204)

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

Journal of Muscle Research and Cell Motility, 2011
It is well established that MYBPC3 mutations are the most common cause of hypertrophic cardiomyopathy, accounting for about half of identified mutations. However, when compared with mutations in other myofibrillar proteins that cause hypertrophic cardiomyopathy, MYBPC3 mutations seem to be the odd one out.
Marston, S, Copeland, O, Gehmlich, K, Schlossarek, S, Carrier, L, Carrrier, L   +5 more
openaire   +2 more sources

Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy [PDF]

, 2010
BACKGROUND: Myocardial fibrosis is a hallmark of hypertrophic cardiomyopathy and a proposed substrate for arrhythmias and heart failure. In animal models, profibrotic genetic pathways are activated early, before hypertrophic remodeling.
Cirino, A.L. (Alison L.), Coelho-Filho, O.R. (Otavio R.), Colan, S.D. (Steven D.), Diez-Martinez, J. (Javier), Gonzalez, A. (Arantxa), Ho, C.Y. (Carolyn Y.), Jarolim, P. (Petr), Kwong, R.Y. (Raymond Y.), Lakdawala, N.K. (Neal K.), Lopez-Salazar, M.B. (María Begoña), Seidman, C.E. (Christine E.), Seidman, J.G. (J.G.)   +11 more
core   +1 more source

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging

The Journal of Cardiovascular Aging
Hypertrophic cardiomyopathy (HCM) is characterized by abnormal thickening of the myocardium, leading to arrhythmias, heart failure, and elevated risk of sudden cardiac death, particularly among the young. This inherited disease is predominantly caused by mutations in sarcomeric genes, among which those in the cardiac myosin binding protein-C3 (MYBPC3 )
Kalyani Ananthamohan, Julian E. Stelzer, Sakthivel Sadayappan   +2 more
openaire   +2 more sources

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy. [PDF]

, 2014
Contraction in the mammalian heart is controlled by the intracellular Ca2+ concentration as it is in all striated muscle, but the heart has an additional signalling system that comes into play to increase heart rate and cardiac output during exercise or ...
Marston, SB, Messer, AE
core   +2 more sources

The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy. [PDF]

PLoS ONE, 2015
Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood.
Benedicte Jørgenrud, Mikko Jalanko, Tiina Heliö, Pertti Jääskeläinen, Mika Laine, Mika Hilvo, Markku S Nieminen, Markku Laakso, Tuulia Hyötyläinen, Matej Orešič, Johanna Kuusisto   +10 more
doaj   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3^Δ25bpIntronic Deletion in South Asian Descendants [PDF]

JAMA Cardiology, 2018
The genetic variant MYBPC3Δ25bp occurs in 4% of South Asian descendants, with an estimated 100 million carriers worldwide. MYBPC3 Δ25bp has been linked to cardiomyopathy and heart failure. However, the high prevalence of MYBPC3Δ25bp suggests that other stressors act in concert with MYBPC3Δ25bp.To determine whether there are additional genetic factors ...
Shiv Kumar, Viswanathan, Megan J, Puckelwartz, Ashish, Mehta, Chrishan J A, Ramachandra, Aravindakshan, Jagadeesan, Regina, Fritsche-Danielson, Ratan V, Bhat, Philip, Wong, Sangeetha, Kandoi, Jennifer A, Schwanekamp, Gina, Kuffel, Lorenzo L, Pesce, Michael J, Zilliox, U Nalla B, Durai, Rama Shanker, Verma, Robert E, Molokie, Domodhar P, Suresh, Philip R, Khoury, Annie, Thomas, Thriveni, Sanagala, Hak Chiaw, Tang, Richard C, Becker, Ralph, Knöll, Winston, Shim, Elizabeth M, McNally, Sakthivel, Sadayappan   +25 more
openaire   +2 more sources

Developmental temperature has persistent, sexually dimorphic effects on zebrafish cardiac anatomy [PDF]

, 2018
Over the next century, climate change of anthropogenic origin is a major threat to global biodiversity. We show here that developmental temperature can have significant effects on zebrafish cardiac anatomy and swimming performance. Zebrafish embryos were
Adriaens, Dominique, Arvanitidis, Christos, Beis, Dimitris, Dimitriadi, Anastasia, Koumoundouros, George   +4 more
core   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?

Journal of General Physiology, 2023
Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels.
openaire   +2 more sources