Výsledky vyhledávání - "Rowmika Ravi"

Akademický článek

Effects of SLCO1B1 Genetic Variant on Metabolite Profile in Participants on Simvastatin Treatment

Autor: Lilian Fernandes Silva, Rowmika Ravi, Jagadish Vangipurapu, Anniina Oravilahti, Markku Laakso

Publikováno v: Metabolites, Vol 12, Iss 12, p 1159 (2022)

Organic-anion-transporting polypeptide 1B1 (OATP1B1), encoded by the solute carrier organic anion transporter family member 1B1 gene (SLCO1B1), is highly expressed in the liver and transports several endogenous metabolites into the liver, including s

Externí odkaz: https://doaj.org/article/5e9ace0544674fe28c5ea62eea833826

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Akademický článek

Metabolite Signature of Simvastatin Treatment Involves Multiple Metabolic Pathways

Autor: Lilian Fernandes Silva, Rowmika Ravi, Jagadish Vangipurapu, Markku Laakso

Publikováno v: Metabolites, Vol 12, Iss 8, p 753 (2022)

Statins inhibit the 3-hydroxy-3-methylglutaryl-CoA reductase enzyme and are the most widely used medication for hypercholesterolemia. Previous studies on the metabolite signature of simvastatin treatment have included only a small number of metabolit

Externí odkaz: https://doaj.org/article/ff7e311a3b6d4d75abe1ab3ce46ae7cc

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Akademický článek

Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study

Autor: Rowmika Ravi, Lilian Fernandes Silva, Jagadish Vangipurapu, Maleeha Maria, Joose Raivo, Seppo Helisalmi, Markku Laakso

Publikováno v: Metabolites, Vol 12, Iss 5, p 437 (2022)

Hypertrophic (HCM) and dilated (DCM) cardiomyopathies are among the leading causes of sudden cardiac death. We identified 38 pathogenic or likely pathogenic variant carriers for HCM in three sarcomere genes (MYH7, MYBPC3, TPMI) among 9.928 participan

Externí odkaz: https://doaj.org/article/2b89189764c84d4ba5739770ff64a84d

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Akademický článek

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency [version 2; referees: 2 approved, 1 not approved]

Autor: Geeta Madathil Govindaraj, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Rowmika Ravi, Ankit Verma, Krishnan Chakkiyar, Machinari Puthenpurayil Jayakrishnan, Riyaz Arakkal, Revathi Raj, Rajeevan Kunnaruvath, Sridhar Sivasubbu, Vinod Scaria

Publikováno v: F1000Research, Vol 5 (2017)

Severe combined immunodeficiency is a large clinically heterogeneous group of disorders caused by a defect in the development of humoral or cellular immune responses. At least 13 genes are known to be involved in the pathophysiology of the disease an

Externí odkaz: https://doaj.org/article/8cad0f28f0a14cf8a62aa37a6c226f01

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Akademický článek

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations]

Autor: Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria

Publikováno v: F1000Research, Vol 5 (2016)

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic m

Externí odkaz: https://doaj.org/article/1e0ec15a358c49f6b2ed64eae8da9cbb

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