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 …
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 …
and function of the mammalian mito-ribosome. At the same time, the first attempts to …
Genetics landscape of nonsyndromic hearing loss in Indian populations
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 …
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
Mitochondrial disorders are a class of heterogeneous disorders caused by genetic
variations in the mitochondrial genome (mtDNA) as well as the nuclear genome. The …
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 …
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 …
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 …
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 …
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 …
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 …
births. According to WHO's associated figures, in both ears, 278 million people globally …