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Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy.

• Eduardo Garcia-Gras, Raffaella Lombardi, +4 authors Ali J Marian
• The Journal of clinical investigation
• 2006

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is a genetic disease caused by mutations in desmosomal proteins. The phenotypic hallmark of ARVC is fibroadipocytic replacement of… (More)

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

• Dong-chuan Guo, Christina L. Papke, +28 authors Dianna Milewicz
• American journal of human genetics
• 2009

The vascular smooth muscle cell (SMC)-specific isoform of alpha-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2… (More)

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.

• Hariyadarshi Pannu, Van Tran-Fadulu, +12 authors Dianna Milewicz
• Human molecular genetics
• 2007

Non-syndromic thoracic aortic aneurysms and dissections (TAADs) are inherited in an autosomal dominant manner in approximately 20% of cases. Familial TAAD is genetically heterogeneous and four loci… (More)

Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy.

• Raffaella Lombardi, Maria da Graça Cabreira-Hansen, Achim Bell, Richard R Fromm, James T. Willerson, Ali J Marian
• Circulation research
• 2011

RATIONALE Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease of desmosome proteins characterized by fibroadipogenesis in the myocardium. We have implicated signaling properties of… (More)

The molecular genetic basis for hypertrophic cardiomyopathy.

• Ali J Marian, Robert Roberts
• Journal of molecular and cellular cardiology
• 2001

Hypertrophic cardiomyopathy (HCM), a relatively common disease, is diagnosed clinically by unexplained cardiac hypertrophy and pathologically by myocyte hypertrophy, disarray, and interstitial… (More)

Endothelial lipase is a major genetic determinant for high-density lipoprotein concentration, structure, and metabolism.

• Ke Ma, Mehmet Cilingiroglu, James D. Otvos, Christie M. Ballantyne, Ali J Marian, Lawrence K Chan
• Proceedings of the National Academy of Sciences…
• 2003

High-density lipoprotein (HDL) protects against atherosclerosis. Endothelial lipase (EL) has been postulated to be involved in lipoprotein, and possibly HDL, metabolism, yet the evidence has been… (More)

A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary…

• Suet Nee Chen, Christie M. Ballantyne, Antonio M. Gotto, Yanli Tan, James T. Willerson, Ali J Marian
• Journal of the American College of Cardiology
• 2005

OBJECTIVES We sought to determine the effects of PCSK9 variants on plasma low-density lipoprotein cholesterol (LDL-C) levels, severity of coronary atherosclerosis, and response to statin therapy in… (More)

Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy.

• Raffaella Lombardi, Jinjiang Dong, +6 authors Ali J Marian
• Circulation research
• 2009

The phenotypic hallmark of arrhythmogenic right ventricular cardiomyopathy, a genetic disease of desmosomal proteins, is fibroadipocytic replacement of the right ventricle. Cellular origin of excess… (More)

Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death

• Ali J Marian, Qiu Tao Yu, Robert Workman, Gottfried Greve, Robert Roberts
• The Lancet
• 1993

We determined the distribution frequency of angiotensin converting enzyme (ACE) polymorphism in 100 patients with hypertrophic cardiomyopathy and 106 of their unaffected siblings and offspring. The… (More)

Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of…

• Sherif F. Nagueh, Linda L. Bachinski, +6 authors Ali J Marian
• Circulation
• 2001

BACKGROUND Left ventricular hypertrophy (LVH), the clinical hallmark of familial hypertrophic cardiomyopathy (FHCM), is absent in a significant number of subjects with causal mutations. In transgenic… (More)

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