Browsing Research Papers (Anuranjan Anand) by Author "Pandey, Nishtha"

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Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma

Pandey, Nishtha; Xavier, Dennis F.; Chatterjee, Arunima; Mani, Ram-Shankar; Hiremagalore, Ravi; Tharakan, Ajith; Rajashekhar, B.; Anand, Anuranjan (Wiley-Blackwell, 2016)

Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is ...
Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

Ganapathy, Aparna; Pandey, Nishtha; Srisailapathy, C. R. Srikumari; Jalvi, Rajeev; Malhotra, Vikas; Venkatappa, Mohan; Chatterjee, Arunima; Sharma, Meenakshi; Santhanam, Rekha; Chadha, Shelly; Ramesh, Arabandi; Agarwal, Arun K.; Rangasayee, Raghunath R.; Anand, Anuranjan (Public Library of Science, 2014)

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL) in ...

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