Results 21 to 30 of about 9,138 (204)

Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy [PDF]

Pflügers Archiv - European Journal of Physiology, 2018
Mutations in cardiac myosin binding protein C (MYBPC3) represent the most frequent cause of familial hypertrophic cardiomyopathy (HCM), making up approximately 50% of identified HCM mutations. MYBPC3 is distinct among other sarcomere genes associated with HCM in that truncating mutations make up the vast majority, whereas nontruncating mutations ...
Amelia A, Glazier, Andrea, Thompson, Sharlene M, Day   +2 more
openaire   +2 more sources

Genetic Study of Hypertrophic Cardiomyopathy in Iranian children: The Role of a De novo Variant [PDF]

پژوهان, 2023
Background and Objectives: Hypertrophic cardiomyopathy is a common cardiac disease diagnosed in young adults and rarely detectable in childhood. Hypertrophic cardiomyopathy exhibits considerable diversity in its clinical and genetic characteristics.
Arastoo Kaki, Mohammad Dalili, Nejat Mahdieh, Mehrdad Noruzinia   +3 more
doaj  

A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity

Balkan Journal of Medical Genetics, 2023
Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death.
Peng Y, Xu J, Wang Y, Zhao J, Zhang L, Chen Z, Jiang Y, Banerjee S, Zhang Z, Bai M   +9 more
doaj   +1 more source

Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy

Stem Cell Research, 2021
MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins.
Nele Warnecke, Bärbel M. Ulmer, Sandra D. Laufer, Aya Shibamiya, Elisabeth Krämer, Christiane Neuber, Sophia Hanke, Charlotta Behrens, Malte Loos, Julia Münch, Jirko Kühnisch, Sabine Klaassen, Thomas Eschenhagen, Monica Patten-Hamel, Lucie Carrier, Giulia Mearini   +15 more
doaj   +1 more source

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology [PDF]

Gene, 2015
More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic ...
Lucie, Carrier, Giulia, Mearini, Konstantina, Stathopoulou, Friederike, Cuello   +3 more
openaire   +2 more sources

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy

International Journal of Molecular Sciences, 2023
Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of HCM cases can be attributed to mutation of the MYBPC3 gene, which encodes cMyBP-C, a crucial structural protein of the cardiac muscle. The manifestation of HCM’s morphological, histological,
Bogdan-Sorin Tudurachi, Alexandra Zăvoi, Andreea Leonte, Laura Țăpoi, Carina Ureche, Silviu Gabriel Bîrgoan, Traian Chiuariu, Larisa Anghel, Rodica Radu, Radu Andy Sascău, Cristian Stătescu   +10 more
openaire   +2 more sources

I-1-deficiency negatively impacts survival in a cardiomyopathy mouse model

International Journal of Cardiology: Heart & Vasculature, 2015
Aims: Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy, diastolic dysfunction and increased interstitial fibrosis. Current treatment is based on beta-adrenoceptor (AR) and calcium channel blockers.
Felix W. Friedrich, Hannieh Sotoud, Birgit Geertz, Silvio Weber, Frederik Flenner, Silke Reischmann, Thomas Eschenhagen, Lucie Carrier, Ali El-Armouche   +8 more
doaj   +1 more source

A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort [PDF]

, 2016
Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases.
Autore, Camillo, Bozzao, Cristina, Chessa, Luciana, Francia, Pietro, Germani, Aldo, Musumeci, Maria Beatrice, Pagannone, Erika, Pennacchini, Ermelinda, Piane, Maria, Rubattu, Speranza, Savio, Camilla, Volpe, Massimo   +11 more
core   +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

MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India [PDF]

Canadian Journal of Cardiology, 2008
Hypertrophic cardiomyopathy (HCM) is a complex cardiac muscular disorder, inherited as an autosomal dominant disease with variable penetrance. Cardiac myosin-binding protein C (MyBPC) is the predominant myosin-binding protein isoform in the heart muscle. One hundred forty-seven mutations have been detected in MYBPC3, accounting for 15% of all HCM cases.
Reena R, Tanjore, Advithi, Rangaraju, P G, Kerkar, Narsimhan, Calambur, Pratibha, Nallari   +4 more
openaire   +2 more sources