Results 141 to 150 of about 18,051 (238)

Predictors of outcome in genetic diagnostics for hypertrophic cardiomyopathy - a retrospective study [PDF]

, 2016
Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease, characterized by an unexplained hypertrophy of the left ventricle, which increases the risk of heart failure, arrhythmias and sudden death.
Dewerand, Madeleine
core  

Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier [PDF]

, 2013
Background: Angiotensin and serotonin have been identified as inducers of cardiac hypertrophy. DNA polymorphisms at the genes encoding components of the angiotensin and serotonin systems have been associated with the risk of developing cardiovascular ...
Berrazueta, J.R. (José), Castro, M.G. (Mónica), Corao, A.I. (Ana), Coto, Eliecer, Díaz, Marta, García, Cristina, Martín, María, Morales, Blanca, Morís, César, Ortega, Francisco, Palacín, María, Reguero, J.R. (Julián), Tavira, Beatriz, Álvarez, Victoria   +13 more
core  

A polymorphism of the MYH7 gene

Nucleic Acids Research, 1990
M A, Siewertsen, H P, Vosberg, D W, Cox
openaire   +3 more sources

Örökletes szívbetegségek klinikai és experimentális vizsgálata: genetikai analízis különböző eredetű szívizombetegségekben = Clinical and experimental examinations in inherited cardiac disorders: genetic analysis of heart muscle diseases of various origin [PDF]

, 2007
Munkatervünkben az örökletes szívbetegségek klinikai és experimentális vizsgálatát tűztük ki célul. Munkánk során, Magyarországon elsőként, sikerrel azonosítottunk kóroki mutációkat fenti betegcsoportokban.
Csanády, Miklós, Dongó, Ágnes, Forster, Tamás, Hőgye, Márta, Sepp, Róbert   +4 more
core  

Multi-scale models reveal hypertrophic cardiomyopathy MYH7 G256E mutation drives hypercontractility and elevated mitochondrial respiration

bioRxiv, 2023
Soah Lee, A. S. V. Roest, Cheavar A. Blair, Kerry Kao, Samantha B Bremner, M. Childers, Divya Pathak, P. Heinrich, Daniel Lee, Orlando Chirikian, Saffie Mohran, Brock Roberts, Jacqueline E. Smith, J. W. Jahng, David T. Paik, Joseph C. Wu, R. Gunawardane, J. Spudich, K. Ruppel, D. Mack, B. Pruitt, M. Regnier, Sean M. Wu, Daniel Bernstein   +23 more
semanticscholar   +1 more source

Exploring RNA-targeted gene therapy approaches for hypertrophic cardiomyopathy [PDF]

, 2012
Relatório de projeto no âmbito do Programa de Bolsas Universidade de Lisboa/Fundação Amadeu Dias (2011/2012). Universidade de Lisboa.
Freitas, Ana
core  

Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation.

Cell Calcium, 2023
Guangli Guo, Lu Wang, Xiaowei Li, Wanrong Fu, Jinhua Cao, Jianchao Zhang, Yangyang Liu, Mengduan Liu, Mengyu Wang, Guojun Zhao, Xi Zhao, Yangfan Zhou, Shaohui Niu, Gang-qiong Liu, Yanzhou Zhang, Jianzeng Dong, Hailong Tao, Xiaoyan Zhao   +17 more
semanticscholar   +1 more source

Identification of recurrent <i>MYH7</i> variant hypertrophic cardiomyopathy patients in Korea: a case series. [PDF]

Cardiovasc Diagn Ther
Ryu SW, Jang S, Son JW, Lee SH, Kim Y, Lee SY, Hong GR, Lee SC, Ko KY, Hwang JW, Seo GH, Jeong WC, Kim KH.   +12 more
europepmc   +1 more source

Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling. [PDF]

J Clin Invest
Loiben AM, Chien WM, McKinstry A, Ahmed D, Childers MC, Regnier M, Murry CE, Yang KC.   +7 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort. [PDF]

Int J Mol Sci
Šukys M, Ereminienė E, Aleknavičienė K, Jonikas R, Tamulėnaitė-Stuokė E, Ažukaitė J, Ugenskienė R.   +6 more
europepmc   +1 more source