Výsledky vyhledávání - "Amritkumar Pavithra"

Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India

Autor: C. R. Srikumari Srisailapathy, Subathra Mahalingam, Justin Margret Jeffrey, S. Paridhy Vanniya, N. P. Karthikeyen, Amritkumar Pavithra, Jayasankaran Chandru, G. Nandhini Devi

Publikováno v: European Archives of Oto-Rhino-Laryngology. 277:3021-3035

Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a0f757c369c6ad3c4eeae5ec6e8e620
https://doi.org/10.1007/s00405-020-06026-3

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Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India

Autor: Jayasankaran, Chandru, Justin Margret, Jeffrey, Amritkumar, Pavithra, S Paridhy, Vanniya, G Nandhini, Devi, Subathra, Mahalingam, Natarajan Padmavathy, Karthikeyen, C R Srikumari, Srisailapathy

Publikováno v: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. 277(11)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::068a5351aa98cb2c72e2cff08b29fc02
https://pubmed.ncbi.nlm.nih.gov/32417962

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Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family

Autor: Justin Margret Jeffrey, Amritkumar Pavithra, N. P. Karthikeyen, Jayasankaran Chandru, C. R. Srikumari Srisailapathy

Publikováno v: European Archives of Oto-Rhino-Laryngology. 274:119-125

Connexin 26 (Cx-26), a gap junction protein coded by GJB2 gene, plays a very important role in recycling of potassium ions, one of the vital steps in the mechanotransduction process of hearing. Mutations in the GJB2 gene have been associated with bot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f40ceeed0ff3b61ffcdf166e6100d07f
https://doi.org/10.1007/s00405-016-4229-5

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Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation

Autor: Srisailapathy C. R. Srikumari, Rajagopalan Ramakrishnan, Murugesan Kalaimathi, N. P. Karthikeyen, Paridhy Vanniya. S, Jayasankaran Chandru, Amritkumar Pavithra, Justin Margret Jeffrey

Publikováno v: Annals of human genetics. 82(2)

Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened for CDH23 mutations to identify prevalent and recurring mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0398e24535e8be9edce9029d5777106
https://pubmed.ncbi.nlm.nih.gov/29148562

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Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in theGJB2Gene: Nonsyndromic presentation in a South Indian Family

Autor: C. R. Srikumari Srisailapathy, Venkatesan Nityaa, Murali Narasimhan, Mathiyalagan Selvakumari, Amritkumar Pavithra, Narasimhan Sharanya, Rajagopalan Ramakrishnan

Publikováno v: Annals of Human Genetics. 79:76-82

Mutations in the GJB2 gene encoding the gap junction protein Connexin 26 have been associated with autosomal recessive as well as dominant nonsyndromic hearing loss. Owing to the involvement of connexins in skin homeostasis, GJB2 mutations have also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dea761fae24127c549121b9e38dfba2e
https://doi.org/10.1111/ahg.12086

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High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications

Autor: Justin Margret Jeffrey, Jayasankaran Chandru, Arabandi Ramesh, Amritkumar Pavithra, C. R. Srikumari Srisailapathy

Publikováno v: Journal of Genetics. 93:207-213

mutations to nonsyndromic hearing lossin a special cohort of assortatively mating HI individualsand their families from the state of Kerala in southern India.A comprehensive approach of screening the extended fam-ilies of the HI mates for studying th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6be9488f55cdddb6c802f8bdd3a61ed
https://doi.org/10.1007/s12041-014-0338-3

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