Výsledky vyhledávání - "M.V. Kranthi Kumar"

Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients

Autor: Shalini Mani, M.V. Kranthi Kumar, S. Narasimha Rao

Publikováno v: Journal of the Neurological Sciences. 404:91-100

In our previously published study, we cared for 165 thiamine deficient Leigh syndrome (LS) patients who presented in acute life threatening conditions with severe neurological abnormalities. However the molecular basis for this atypical phenotype was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d7cd3390d098f583b6b1d0fb17c4f8b7
https://doi.org/10.1016/j.jns.2019.07.007

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G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients

Autor: M.V. Kranthi Kumar, S. Narasimha Rao, Shalini Mani

Publikováno v: Journal of the neurological sciences. 415

Cytochrome c oxidase (COX) deficiency is known to be associated with Leigh syndrome (LS), however there are limited studies on genetic screening of mitochondrial (mt) DNA encoding COX genes as well as the functional validation of identified variants.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c37c99c0e1e98344321a5dd6d0d0fbd
https://pubmed.ncbi.nlm.nih.gov/32428756

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Impact of Common Variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the Risk of Type 2 Diabetes in 5,164 Indians

Autor: Chittaranjan S. Yajnik, Sreenivas Chavali, Smita R. Kulkarni, Rubina Tabassum, Om Prakash Dwivedi, Giriraj R. Chandak, Ganesh Chauhan, Seema Bhaskar, S. Prakash, M.V. Kranthi Kumar, Saurabh Ghosh, Nikhil Tandon, Dwaipayan Bharadwaj, Anubha Mahajan, Charles J. Spurgeon

Publikováno v: Diabetes

OBJECTIVE Common variants in PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 genes have been shown to be associated with type 2 diabetes in European populations by genome-wide association studies. We have studied the association of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27608b53e3dfb2c0d32850efda8cfec5
https://doi.org/10.2337/db09-1386

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High Prevalence of Infantile Encephalitic Beriberi with Overlapping Features of Leigh's Disease

Autor: Karuna Madap, M.V. Kranthi Kumar, Giriraj R. Chandak, Lalji Singh, Shalini Mani, S. Narasimha Rao

Publikováno v: Journal of Tropical Pediatrics. 54:328-332

Infantile encephalitic beriberi (IEBB) is a rare form of thiamine deficiency and is poorly described. A proportion of Leigh's disease (LD) patients have similar clinical picture and response to thiamine as beriberi, leading to confusion in diagnosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3723cc388049b45881796c07f0e0ef
https://doi.org/10.1093/tropej/fmn031

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Common variants of SLAMF1 and ITLN1 on 1q21 are associated with type 2 diabetes in Indian population

Autor: Charles J. Spurgeon, Rubina Tabassum, Sandeep Kumar Mathur, Giriraj R. Chandak, Ganesh Chauhan, Om Prakash Dwivedi, M.V. Kranthi Kumar, Saurabh Ghosh, Nikhil Tandon, Dwaipayan Bharadwaj, Sri Venkata Madhu, Anubha Mahajan

Publikováno v: Journal of human genetics. 57(3)

Though multiple studies link chromosomal regions 1q21-q23 and 20q13 with type 2 diabetes, fine mapping of these regions is yet to confirm gene(s) explaining the linkages. These candidate regions remain unexplored in Indians, which is a high-risk popu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9bbfb62b39293618f124caacc306932
https://pubmed.ncbi.nlm.nih.gov/22277902

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Associations of FTO and MC4R Variants with Obesity Traits in Indians and the Role of Rural/Urban Environment as a Possible Effect Modifier

Publikováno v: Journal of Obesity, Vol 2011 (2011)
Journal of Obesity

Few studies have investigated the association between genetic variation and obesity traits in Indian populations or the role of environmental factors as modifiers of these relationships. In the context of rapid urbanisation, resulting in significant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c7c4ec4f65c354aade966de9a22ec8b
https://researchonline.lshtm.ac.uk/id/eprint/329/1/307542.f1.pdf

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Response to Comment on: Chauhan et al. (2010) Impact of Common Variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the Risk of Type 2 Diabetes in 5,164 Indians. Diabetes;59:2068–2074

Autor: S. Prakash, Rubina Tabassum, Giriraj R. Chandak, Ganesh Chauhan, Chittaranjan S. Yajnik, Sreenivas Chavali, Seema Bhaskar, M.V. Kranthi Kumar, Saurabh Ghosh, Om Prakash Dwivedi, Smita R. Kulkarni, Nikhil Tandon, Dwaipayan Bharadwaj, Anubha Mahajan, Charles J. Spurgeon

Publikováno v: Diabetes. 59:e16-e16

We read with interest the letter by Gupta and Ebrahim (1) complimenting our article (2) published recently in Diabetes . As mentioned rightly by the authors, there have not been many well-powered association studies on type 2 diabetes in the Indian p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::337a465907c8b05df282d3972ab7564e
https://doi.org/10.2337/db10-0868

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