Associated Papers
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
The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice.
Hale EB et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.
Lin PH et al.
Clinical and Experimental Otorhinolaryngology, 2025
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.
Kim AR et al.
Audiology & Neuro-otology, 2015
Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.
Legan PK et al.
Human Molecular Genetics, 2014
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Su Y et al.
Plos One, 2014
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS et al.
Human Mutation, 2011
Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.
de Heer AR et al.
Audiology & Neuro-otology, 2009
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
Collin RW et al.
European Journal of Human Genetics : Ejhg, 2008
[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
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
Alasti F et al.
International Journal of Pediatric Otorhinolaryngology, 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
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
Meyer NC et al.
Clinical Genetics, 2007
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
Meyer NC et al.
American Journal of Medical Genetics. Part A, 2007
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
Plantinga RF et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2006
[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
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
Mustapha M et al.
Human Molecular Genetics, 1999
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Verhoeven K et al.
Nature Genetics, 1998