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
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
A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.
Skuladottir AT et al.
Communications Biology, 2021
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.
Qi M et al.
Birth Defects Research, 2021
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Hu H et al.
Medicine, 2021
Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.
Renauld JM et al.
Current Protocols, 2021
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Neuroplastin Isoform Np55 Is Expressed in the Stereocilia of Outer Hair Cells and Required for Normal Outer Hair Cell Function.
Zeng WZ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
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 rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
Bai H et al.
Bmc Medical Genetics, 2014
The candidate splicing factor Sfswap regulates growth and patterning of inner ear sensory organs.
Moayedi Y et al.
Plos 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
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
Yang T et al.
Orphanet Journal of Rare Diseases, 2013
An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.
Kim BJ et al.
Plos One, 2013
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS et al.
Human Mutation, 2011
Structural and mechanical analysis of tectorial membrane Tecta mutants.
Gueta R et al.
Biophysical Journal, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 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
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
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
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.
Pfister M et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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
Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation.
Xia A et al.
Disease Models & Mechanisms, 0