The genetic basis of nonsyndromic hearing loss in Indian and Pakistani populations

D Yan, A Kannan-Sundhari, S Vishwanath… - Genetic Testing and …, 2015 - liebertpub.com
Deafness encompasses a series of etiologically heterogeneous disorders with mutations in
more than 400 independent genes. However, several studies indicate that a large proportion …

Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness

A Vila-Sanjurjo, N Mallo, JL Elson, PM Smith… - Frontiers in …, 2023 - frontiersin.org
The last few years have witnessed dramatic advances in our understanding of the structure
and function of the mammalian mito-ribosome. At the same time, the first attempts to …

Genetics landscape of nonsyndromic hearing loss in Indian populations

M Ray, S Sarkar, MN Sable - Journal of Pediatric Genetics, 2022 - thieme-connect.com
Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most
prevalent chronic disorder in children. It affects the physical and mental conditions of a large …

Spectrum of rare and common mitochondrial DNA variations from 1029 whole genomes of self-declared healthy individuals from India

V Gupta, B Jolly, RC Bhoyar, MK Divakar, A Jain… - … Biology and Chemistry, 2024 - Elsevier
Mitochondrial disorders are a class of heterogeneous disorders caused by genetic
variations in the mitochondrial genome (mtDNA) as well as the nuclear genome. The …

Complete Mitochondrial Genome Analysis and Clinical Documentation of a Five‐Generational Indian Family with Mitochondrial 1555A> G Mutation and Postlingual …

M Subathra, M Selvakumari, A Ramesh… - Annals of Human …, 2014 - Wiley Online Library
Hearing loss is the most common sensory disorder and is genetically heterogeneous. Apart
from nuclear gene mutations, a number of inherited mitochondrial mutations have also been …

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India

PK Singh, M Ghosh, S Sharma, S Shastri… - Indian Journal of …, 2017 - journals.lww.com
Methods: Forty seven families including 26 consanguineous families with at least two
hearing impaired children and one normal hearing child and 21 non-consanguineous …

[PDF][PDF] Screening for Mitochondrial A1555G Mutation among Assortative Mating Hearing Impaired Families in South India: Some Vital Insights

P Amritkumar, CRS Srisailapathy - New Frontiers in Medicine and …, 2021 - researchgate.net
Unravelling the mechanism of non-syndromic hearing loss (NSHL) through genetic studies
have till date been perplexed by several factors such as genetic heterogeneity, multiple …

The detection and partial localisation of heteroplasmic mutations in the mitochondrial genome of patients with Diabetic Retinopathy

AN Malik, HS Rosa, E S. de Menezes… - International Journal of …, 2019 - mdpi.com
Diabetic retinopathy (DR) is a common complication of diabetes and a major cause of
acquired blindness in adults. Mitochondria are cellular organelles involved in energy …

[PDF][PDF] Is screening for mitochondrial A1555G mutation among assortative mating hearing impaired families important?: A prefatory quest

A Pavithra, PT Harini, J Chandru, C Sarvani… - Res …, 2014 - academia.edu
Genetic heterogeneity, multiple phenotypes, consanguinity and marriages between hearing
impaired persons have confounded the genetic studies on non-syndromic hearing loss …

[PDF][PDF] DNA Marker Screening for High-Risk Non-syndromic Hearing Loss Associated to Gene Mutations

YK Amin - Indian Journal of Forensic Medicine & …, 2022 - pdfs.semanticscholar.org
Background: Congenital hearing loss is a debilitating disease affecting 1–3 out of 1,000 live
births. According to WHO's associated figures, in both ears, 278 million people globally …