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
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 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
Age-related degradation of tectorial membrane dynamics with loss of CEACAM16.
Mansour A et al.
Biophysical Journal, 2021
Cryo-EM structure of native human uromodulin, a zona pellucida module polymer.
Stsiapanava A et al.
The Embo Journal, 2020
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
Ruiz-Llorente L et al.
Gene, 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
Genetics of auditory mechano-electrical transduction.
Michalski N et al.
Pflugers Archiv : European Journal of Physiology, 2015
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
Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family.
Ramsebner R et al.
International Journal of Pediatric Otorhinolaryngology, 2014
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
Bai H et al.
Bmc Medical 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
Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
Choi BY et al.
Plos One, 2014
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
A structural view of egg coat architecture and function in fertilization.
Monné M et al.
Biology of Reproduction, 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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
The tectorial membrane: one slice of a complex cochlear sandwich.
Richardson GP et al.
Current Opinion in Otolaryngology & Head and Neck Surgery, 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
Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.
Moreno-Pelayo MA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 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
Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.
Plantinga RF et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2007
Mouse models to study inner ear development and hereditary hearing loss.
Friedman LM et al.
The International Journal of Developmental Biology, 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
A deafness mutation isolates a second role for the tectorial membrane in hearing.
Legan PK et al.
Nature Neuroscience, 2005
[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