Search Results - "Dhandapany, Perundurai S"
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Heterogeneous Distribution of Genetic Mutations in Myosin Binding Protein-C Paralogs
Published in Frontiers in genetics (27-06-2022)“…Myosin binding protein-C (MyBP-C) is a sarcomeric protein which regulates the force of contraction in striated muscles. Mutations in the MYBPC family of genes,…”
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Sleep fragmentation induces heart failure in a hypertrophic cardiomyopathy mouse model by altering redox metabolism
Published in iScience (15-03-2024)“…Sleep fragmentation (SF) disrupts normal biological rhythms and has major impacts on cardiovascular health; however, it has never been shown to be a risk…”
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A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM)
Published in PloS one (03-07-2014)“…Cardiomyopathy is a major cause of heart failure and sudden cardiac death; several mutations in sarcomeric protein genes have been associated with this…”
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Novel Mutations in β-MYH7 Gene in Indian Patients With Dilated Cardiomyopathy
Published in CJC open (Online) (01-01-2022)“…Heart failure is a hallmark of severe hypertrophic cardiomyopathy and dilated cardiomyopathy (DCM). Several mutations in the β-MYH7 gene lead to hypertrophic…”
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Association of Sleep Duration with Stroke in Diabetic Patients: Analysis of the National Health Interview Survey
Published in Journal of stroke and cerebrovascular diseases (01-03-2016)“…Background Habitual sleep duration is increasingly being recognized as an important risk factor for stroke. We sought to describe the association between sleep…”
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Targeted genome-wide enrichment of functional regions
Published in PloS one (16-06-2010)“…Only a small fraction of large genomes such as that of the human contains the functional regions such as the exons, promoters, and polyA sites. A platform…”
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A field-based quantitative analysis of sublethal effects of air pollution on pollinators
Published in Proceedings of the National Academy of Sciences - PNAS (25-08-2020)“…While the impact of air pollution on human health is well studied, mechanistic impacts of air pollution on wild systems, including those providing essential…”
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Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes
Published in Journal of molecular and cellular cardiology (01-07-2011)“…Abstract RAS activation is implicated in physiologic and pathologic cardiac hypertrophy. Cross-talk between the Ras and calcineurin pathways, the latter also…”
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Cardiomyocyte orientation recovery at micrometer scale reveals long-axis fiber continuum in heart walls
Published in The EMBO journal (04-10-2023)“…Coordinated cardiomyocyte contraction drives the mammalian heart to beat and circulate blood. No consensus model of cardiomyocyte geometrical arrangement…”
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REPLY TO NEGRI ET AL: Air pollution and health impacts on bees: Signs of causation
Published in Proceedings of the National Academy of Sciences - PNAS (27-10-2020)Get full text
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Cardiac isoform of alpha-2 macroglobulin—A new biomarker for myocardial infarcted diabetic patients
Published in Atherosclerosis (01-05-2006)“…Cardiac isoform of alpha-2 macroglobulin [cardiac α2M] has been shown to be an early marker in cardiac hypertrophy and left ventricular mass in humans. We,…”
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Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy
Published in Journal of medical genetics (01-10-2022)“…Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with preserved or increased ejection fraction in the absence of secondary causes. Mutations…”
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Mindin (SPON2) Is Essential for Cutaneous Fibrogenesis in a Mouse Model of Systemic Sclerosis
Published in Journal of investigative dermatology (01-05-2023)“…Systemic sclerosis is a fibrotic disease that initiates in the skin and progresses to internal organs, leading to a poor prognosis. Unraveling the etiology of…”
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A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
Published in Nature genetics (01-02-2009)“…Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown. Cardiomyopathies due to sarcomeric…”
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Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3Δ25bp variant
Published in Stem cell research (01-12-2022)“…Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle…”
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Mitochondrial genome variations in idiopathic dilated cardiomyopathy
Published in Mitochondrion (01-09-2019)“…Idiopathic dilated cardiomyopathy (DCM) is a structural heart disease with strong genetic background. The aim of this study was to assess the role of…”
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Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia
Published in Cell reports (Cambridge) (20-10-2015)“…Somatic PTPN11 mutations cause juvenile myelomonocytic leukemia (JMML). Germline PTPN11 defects cause Noonan syndrome (NS), and specific inherited mutations…”
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RAF1 mutations in childhood-onset dilated cardiomyopathy
Published in Nature genetics (01-06-2014)“…Bruce Gelb and colleagues identify rare RAF1 mutations in individuals with childhood-onset dilated cardiomyopathy in three cohorts from South India, North…”
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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
Published in European journal of human genetics : EJHG (01-07-2019)“…Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known…”
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Dominant negative Ras attenuates pathological ventricular remodeling in pressure overload cardiac hypertrophy
Published in Biochimica et biophysica acta (01-11-2015)“…The importance of the oncogene Ras in cardiac hypertrophy is well appreciated. The hypertrophic effects of the constitutively active mutant Ras-Val12 are…”
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