Associated Papers
Pharmacogenomic heterogeneity of N-acetyltransferase 2: a comprehensive analysis of real world data in Indian tuberculosis patients and from literature and database review.
Thomas L et al.
Annals of Medicine, 2025
A Novel COCH p.D544Vfs*3 Variant Associated with DFNA9 Sensorineural Hearing Loss Causes Pathological Multimeric Cochlin Formation.
Peng Y et al.
Life (basel, Switzerland), 2023
Radiologic Features in Cochlear Implant Candidates: A Prospective Study Comparing Candidates Carrying the p.Pro51Ser Mutation in Coagulation Factor C Homology With Noncarriers.
Beerten A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2022
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS et al.
Human Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
Robijn SMM et al.
Biomolecules, 2022
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R et al.
Genes, 2021
On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
Verdoodt D et al.
Hearing Research, 2021
First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.
Basu A et al.
Head and Neck Pathology, 2020
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
Masuda M et al.
Biochemical and Biophysical Research Communications, 2016
Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).
Burgess BJ et al.
Audiology & Neuro-otology, 2016
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
Bae SH et al.
Human Mutation, 2014
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Chang MY et al.
Korean Journal of Audiology, 2014
Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY et al.
Plos One, 2013
Genetic polymorphism in N-Acetyltransferase (NAT): Population distribution of NAT1 and NAT2 activity.
Walker K et al.
Journal of Toxicology and Environmental Health. Part B, Critical Reviews, 2009
Polymorphism of selected enzymes involved in detoxification and biotransformation in relation to lung cancer.
Gresner P et al.
Lung Cancer (amsterdam, Netherlands), 2007