Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.
Yang Y et al.
Human Molecular Genetics, 2025
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.
Miyanohara I et al.
Genes, 2024
Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.
Yang Y et al.
Human Molecular Genetics, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O et al.
International Journal of Molecular Sciences, 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
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.
Pavlenkova Z et al.
Scientific Reports, 2021
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Brownstein Z et al.
Clinical Genetics, 2020
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
Yasukawa R et al.
Genes, 2019
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.
Nam GS et al.
Bmc Medical Genetics, 2019
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 2017
A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.
Behlouli A et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.
Kim AR et al.
Audiology & Neuro-otology, 2015
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Su Y et al.
Plos One, 2014
A commentary on 'TECTA mutations in Japanese with mid-frequency hearing loss affected by Zona Pellucida domain protein secretion'.
Maeda Y et al.
Journal of Human Genetics, 2012
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.
Moteki H et al.
Journal of Human Genetics, 2012
Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene.
Sagong B et al.
Gene, 2012
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z et al.
Genome Biology, 2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS et al.
Human Mutation, 2011
Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.
Sagong B et al.
Annals of Clinical and Laboratory Science, 2010
[Linkage analysis of one family with autosomal dominant high myopia].
Chang JX et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Study on ABO gene polymorphism in Uighur nationality in Xinjiang of China].
Yu Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
[Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases].
Yu F et al.
Zhonghua Yi Xue Za Zhi, 2007
[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].
Jin T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].
Zhu B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
[Study on gamma-synuclein gene in patients with idiopathic Parkinson's disease].
Su JJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
[A novel member of SH(2) signaling protein family: cloning and characterization of SH(2)A gene].
Dai S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002
[An extensive matrilineal nonsyndromic sensorineural deafness family and mtDNA 12SrRNA gene mutation].
Yan M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999
Genetic diagnosis of childhood sensorineural hearing loss.
Reda Del Barrio S et al.
Acta Otorrinolaringologica Espanola, 0