[HTML][HTML] The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

JG Seidman, C Seidman - Cell, 2001 - cell.com
The Genetic Basis for Cardiomyopathy: Cell Skip to Main Content Advertisement Cell This
journal offers authors two options (open access or subscription) to publish research This …

The failing heart

JA Towbin, NE Bowles - Nature, 2002 - nature.com
Cardiomyopathies are disorders affecting heart muscle that usually result in inadequate
pumping of the heart. They are the most common cause of heart failure and each year kill …

Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice

D Reichart, GA Newby, H Wakimoto, M Lun… - Nature medicine, 2023 - nature.com
Dominant missense pathogenic variants in cardiac myosin heavy chain cause hypertrophic
cardiomyopathy (HCM), a currently incurable disorder that increases risk for stroke, heart …

[HTML][HTML] Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells

F Lan, AS Lee, P Liang, V Sanchez-Freire, PK Nguyen… - Cell stem cell, 2013 - cell.com
Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder
linked to arrhythmia and sudden cardiac death. While the causes of HCM have been …

[HTML][HTML] Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era

P Teekakirikul, MA Kelly, HL Rehm… - The Journal of Molecular …, 2013 - Elsevier
Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy,
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …

Mitofusins 1 and 2 are essential for postnatal metabolic remodeling in heart

KN Papanicolaou, R Kikuchi, GA Ngoh… - Circulation …, 2012 - Am Heart Assoc
Rationale: At birth, there is a switch from placental to pulmonary circulation and the heart
commences its aerobic metabolism. In cardiac myocytes, this transition is marked by …

Molecular mechanisms of inherited cardiomyopathies

D Fatkin, RM Graham - Physiological reviews, 2002 - journals.physiology.org
Cardiomyopathies are diseases of heart muscle that may result from a diverse array of
conditions that damage the heart and other organs and impair myocardial function, including …

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

C Semsarian, I Ahmad, M Giewat… - The Journal of …, 2002 - Am Soc Clin Investig
Dominant mutations in sarcomere protein genes cause hypertrophic cardiomyopathy, an
inherited human disorder with increased ventricular wall thickness, myocyte hypertrophy …

Mitochondrial death protein Nix is induced in cardiac hypertrophy and triggers apoptotic cardiomyopathy

MG Yussman, T Toyokawa, A Odley, RA Lynch, G Wu… - Nature medicine, 2002 - nature.com
Loss of cardiomyocytes through programmed cell death is a key event in the development of
heart failure, but the inciting molecular mechanisms are largely unknown. We used …

[HTML][HTML] Genetic causes of human heart failure

H Morita, J Seidman, CE Seidman - The Journal of clinical …, 2005 - Am Soc Clin Investig
Factors that render patients with cardiovascular disease at high risk for heart failure remain
incompletely defined. Recent insights into molecular genetic causes of myocardial diseases …