i-DHANS: Indian database of healthy aging nucleotide sequences

Manuscript under preparation

Indian database of healthy aging nucleotide sequences (i-DHANS) is the first Indian exome database for healthy aging individuals. It provides comprehensive information of different types of genetic variation on the Indian aging alleles that help to distinguish disease associated mutations. A total of 1500 control participants were analyzed and 94 healthy aging individuals were selected with the...

Myocardin ablation in a cardiac-renal rat model

Sci Rep. 2019; 10;9(1):5872.

Dilated cardiomyopathy (DCM) is a major co-existing form of heart failure (HF) with renal diseases. Myocardin (MYOCD), a cardiac-specific co-activator of serum response factor (SRF), is increased in DCM porcine and patient cardiac tissues and plays a crucial role in the pathophysiology of DCM. Inhibiting the increased MYOCD has shown to be partially rescuing the DCM phenotype in porcine model. However, expression levels of MYOCD in...

Database for Cardiomyopathy: CardioDatabase

CardioDatabase is a comprehensive integrated platform for cardiomyopathy disease, which links dynamic information such as molecular pathogenesis, genetic variants and frequencies, modulation of important pathways, available therapies and therapeutic targets and basic information of disease associated genes. The information was collected in cohesive manner from different databases along with in-house curation. The...

Mir-19b-3p Regulates Autophagy by Targeting Raf-1 During Hypertrophic Cardiomyopathy

Circulation Research. 2018;121:A484

Hypertrophic cardiomyopathy (HCM) is a heterogenous disease predominantly caused by sarcomeric genes. However, 40-50% cases etiology are not known. RAF1 mutations cause syndromic and isolated childhood cardiomyopathies. Functional mutations in untranslated regions (UTRs) of RAF-1 gene are rare, and their role in cardiomyopathy is unexplored. UTRs are important sites for interaction of epigenetic regulators...

Raf1, a nexus for cardiac hypertrophic signaling in human disease

In the current issue of the Journal of Molecular and Cellular Cardiology (July 2011), Dhandapany et al. further explore the ability of Raf1 to regulate hypertrophy of cardiomyocytes. The authors employ three common Raf1 mutations observed in Noonan/LEOPARD syndromes to dissect downstream signaling pathways ultimately impacting myocyte growth control.

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Children heart disease causing gene identified

We discovered the variants in RAF1 (a RAS-MAPK member) as a primary cause of childhood-onset DCM (~10%). This is the first gene causing isolated DCM to be strongly associated with pediatric-onset disease and the first report of DCM principally attributable to altered RAS-MAPK signaling. Implications of these study on public health include various companies across the world use these variants as diagnostic
markers to identify the risk associated with cardiomyopathies.