Publications by authors named "Chinmay Sundar Ray"
Article Synopsis
- Hereditary nonsyndromic hearing loss (NSHL) is a complex disorder with various genetic causes, and Myosin VI mutations can lead to different forms of hearing loss, including those occurring after language acquisition.
- In this study, researchers used next-generation sequencing to analyze an Indian family's postlingual hearing loss, discovering a unique mutation in the Myosin VI gene that appears to disrupt its function.
- The findings underscore the importance of genetic testing for deafness in families where traditional causes are not identified, aiding in better diagnosis and genetic counseling.
Otosclerosis (OTSC) is a focal and diffuse bone disorder of the human middle ear characterized by abnormal bone growth and deposition at the stapes' footplate. This hinders the transmission of acoustic waves to the inner ear leading to subsequent conductive hearing loss. The plausible convections for the disease are genetic and environmental factors with yet an unraveled root cause.
View Article and Find Full Text PDFOtosclerosis (OTSC) is the primary form of conductive hearing loss characterized by abnormal bone remodelling within the otic capsule of the human middle ear. A genetic association of the RELN SNP rs3914132 with OTSC has been identified in European population. Previously, we showed a trend towards association of this polymorphism with OTSC and identified a rare variant rs74503667 in a familial case.
View Article and Find Full Text PDFBackground: Otitis media (OM) is a middle ear inflammatory complex disorder involving genetic and environmental factors. It onsets during childhood and often recurs and perplexes in genetically susceptible patients. Previously, murine models had shown the association of ISL LIM homeobox 1 (ISL1) gene with otitis media with effusion.
View Article and Find Full Text PDFArticle Synopsis
- Otosclerosis (OTSC) is a genetic disorder involving abnormal bone growth in the middle ear, impacting the stapes bone, with certain gene variants linked to its risk.
- A study of 320 otosclerotic patients and 320 controls investigated associations between specific gene SNPs and OTSC and found two SNPs (rs1800012 and rs17563) linked to the condition.
- The research indicated that the GT genotype of rs1800012 may provide protection against OTSC, while the TC genotype at rs17563 could increase risk, alongside alterations in gene expression potentially influencing susceptibility to the disorder.
Otosclerosis (OTSC) is defined by abnormal bone remodeling in the otic capsule of middle ear which leads to conductive hearing loss. In our previous study, we have identified a de novo heterozygous mutation -832G > A in the promoter of TGFB1 in an otosclerosis patient. In the present study, we progressively screened this mutation in a cohort of 254 cases and 262 controls.
View Article and Find Full Text PDFOtosclerosis (OTSC) is a late-onset hearing disorder characterized by increased bone turnover in the otic capsule. Disturbed osteoprotegerin expression has been found in the otosclerotic foci which may have an important role in the pathogenesis of OTSC. To identify the genetic risk factors, we sequenced the coding region and exon-intron boundaries of the OPG gene in 254 OTSC patients and 262 controls.
View Article and Find Full Text PDFOtosclerosis (OTSC) is a common form of acquired hearing loss resulting from disturbed bone remodeling in the otic capsule of the middle ear. Transforming growth factor-beta1 (TGFB1) produced by osteoblasts is the most abundant growth factor in human bone. Previous studies have shown the contribution of single-nucleotide polymorphisms (SNPs) in TGFB1 toward the risk of developing OTSC in some ethnic populations.
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