Results 191 to 200 of about 9,138 (204)

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy. [PDF]

J Am Heart Assoc
Suzuki T, Lesurf R, Akilen R, Xu X, Batke EM, Rao VJ, Jobling R, Zahavich L, Henden N, Ingles J, Torres EA, Hirono K, Roux-Buisson N, Dhandapany PS, Sandmann C, Mital S.   +15 more
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Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy

Cardiology in the Young, 2021
AbstractObjectives:This study aims to investigate the pathogenic gene variant in a family with hypertrophic cardiomyopathy by using whole-exome sequencing and to explore the relationship between the gene variant and clinical phenotype.Methods:Peripheral blood was collected from a family with hypertrophic cardiomyopathy, and deoxyribonucleic acid was ...
Xiaofei Yang, Zhenghao Li, Qingfa Wang, Yongfa Zhang, Cuifen Zhao   +4 more
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Targeting the population for gene therapy with MYBPC3

Journal of Molecular and Cellular Cardiology, 2021
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited myocardial disease characterized by unexplained left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. Clinical heterogeneity is wide, ranging from asymptomatic individuals to heart failure, arrhythmias and sudden death.
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A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain

Revista Española de Cardiología (English Edition), 2017
Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c ...
María, Sabater-Molina, Daniel, Saura, Esperanza, García-Molina Sáez, Josefa, González-Carrillo, Luis, Polo, Inmaculada, Pérez-Sánchez, María Del Carmen, Olmo, María José, Oliva-Sandoval, Roberto, Barriales-Villa, Pablo, Carbonell, Domigo, Pascual-Figal, Juan R, Gimeno   +11 more
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Nueva mutación fundadora en MYBPC3: comparación fenotípica con la mutación de MYBPC3 más frecuente en España

Revista Española de Cardiología, 2017
Resumen Introduccion y objetivos Las mutaciones en MYBPC3 son causa de miocardiopatia hipertrofica (MCH). A pesar de que la mayoria de ellas producen una proteina truncada, la gravedad del fenotipo es diversa. Se describe el fenotipo clinico de una nueva mutacion en MYBPC3 , p.Pro108Alafs*9, presente en 13 familias del sur de Espana, y se compara
María Sabater-Molina, Daniel Saura, Esperanza García-Molina Sáez, Josefa González-Carrillo, Luis Polo, Inmaculada Pérez-Sánchez, María del Carmen Olmo, María José Oliva-Sandoval, Roberto Barriales-Villa, Pablo Carbonell, Domigo Pascual-Figal, Juan R. Gimeno   +11 more
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Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy

Basic Research in Cardiology, 2011
Several lines of evidence suggest that alterations of the ubiquitin-proteasome system (UPS) and autophagy-lysosome pathway (ALP) may be involved in cardiac diseases. Little is known, however, in hypertrophic cardiomyopathy (HCM). This study studied these pathways in two mouse models of HCM that mainly differ by the presence or absence of truncated ...
Schlossarek S, Englmann D, Sultan K, Sauer M, Eschenhagen T, Carrier L.   +5 more
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HYPERTROPHIC CARDIOMYOPATHY AND MYBPC3 VARIANT - A CLINICAL CASE

European Heart Journal Supplements
Abstract Introduction Hypertrophic cardiomyopathy is a primary pathology of the cardiac muscle. Sarcomeric forms of hypertrophic cardiomyopathy (HCM) often have autosomal dominant transmission. A pathogenetic or likely pathogenetic mutation affecting genes encoding sarcomeric proteins is present in 30-
M Bianco, G Nangeroni, C Biolè, L Garello, D Giachino, A Chinaglia   +5 more
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MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction

Pflügers Archiv - European Journal of Physiology, 2013
Mutations in MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), frequently cause hypertrophic cardiomyopathy (HCM), which affects 0.2 % of the general population. This myocardial autosomal-dominant disorder is the leading cause of sudden cardiac death particularly in young athletes.
Verena, Behrens-Gawlik, Giulia, Mearini, Christina, Gedicke-Hornung, Pascale, Richard, Lucie, Carrier   +4 more
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[Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].

Zhonghua xin xue guan bing za zhi, 2010
To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy (HCM).Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced.Four novel mutations and four common polymorphisms were identified in this patient cohort.
Zhan-feng, Ma, Wen-ling, Liu, Da-yi, Hu, Wen-li, Xie, Tian-gang, Zhu, Yi-hong, Sun, Song-na, Yang, Cui-lan, Li, Lei, Li, Xiao-yun, Nie, Jin-gang, Yang, Tian-chang, Li, Hong, Bian, Qi-guang, Tong, Jie, Xiao, Guo-hong, Wang, Wei, Cui, Rui-yun, Fan, Yun-tian, Li   +18 more
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Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation

European Journal of Medical Genetics, 2014
Josef, Finsterer, Sinda, Zarrouk-Mahjoub
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