Distinctive audiometric profile associated with DFNB21 alleles of TECTA

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Journal of Medical Genetics

• Publication date

  2003-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.40.5.360PMID 12746400PMCID PMC1735454
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss.

  2002cited by this paper
• Genetics of Auditory Disorders

  2002cited by this paper
• Autosomal and X-Linked Auditory Disorders

  2002cited by this paper
• The ZP domain is a conserved module for polymerization of extracellular proteins

  2002cited by this paper
• Curbing the nonsense: the activation and regulation of mRNA surveillance.

  2001cited by this paper
• A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family

  2001cited by this paper
• Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon.

  2000cited by this paper
• Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

  2000cited by this paper
• An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness , DFNB 21

  1999cited by this paper
• Alpha-tectorin involvement in hearing disabilities: one gene – two phenotypes

  1999cited by this paper
• Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

  1999cited by this paper
• An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

  1999cited by this paper
• Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss

  1999cited by this paper
• Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family

  1998cited by this paper
• Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

  1998cited by this paper
• Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

  1998cited by this paper
• The Mouse Tectorins

  1997cited by this paper
• Genetic Epidemiology of Hearing Impairment

  1991cited by this paper
• A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.

  1989cited by this paper
• Polypeptide composition of the mammalian tectorial membrane.

  1987cited by this paper

• Hearing Loss Secondary to TECTA Gene Mutations

  2025cites this paper
• Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades

  2024cites this paper
• Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies

  2024cites this paper
• The Cochlear Matrisome: Importance in Hearing and Deafness.

  2023cites this paper
• Ultrarare missense and frameshift variants in the TECTA gene may involve tectorial membrane in familial Meniere disease

  2022cites this paper
• Defective α‐tectorin may involve tectorial membrane in familial Meniere disease

  2022cites this paper
• Deficiency of Klc2 Induces Low-Frequency Sensorineural Hearing Loss in C57BL/6 J Mice and Human

  2021cites this paper
• Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families

  2021cites this paper
• Molecular genetic landscape of hereditary hearing loss in Pakistan

  2021cites this paper
• TECTA Gene

  2020cites this paper
• Role of Genetic Factors in the Causation of Non-Syndromic Hearing Loss (NSHL) in Indian Population

  2020cites this paper
• The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

  2019cites this paper
• Expanding the Genetic Landscape of Usher-Like Phenotypes.

  2019cites this paper
• Zebrafish models of human eye and inner ear diseases.

  2017cites this paper
• Genetic causes of moderate to severe hearing loss point to modifiers

  2017cites this paper
• Specific Distribution of GJB2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population

  2017cites this paper
• Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

  2017cites this paper
• A novel TECTA mutation causes ARNSHL.

  2017cites this paper
• Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in large families from Khuzestan Province.

  2017cites this paper
• An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

  2017cites this paper
• Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness

  2016cites this paper
• Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

  2016cites this paper
• A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

  2016cites this paper
• The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

  2015cites this paper
• Novel TECTA Mutations Identified in Stable Sensorineural Hearing Loss and Their Clinical Implications

  2014influential citation
• Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

  2014cites this paper
• A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

  2014influential citation
• NON-SYNDROMIC HEARING LOSS AND HIGH-THROUGHPUT STRATEGIES TO DECIPHER ITS GENETIC HETEROGENEITY

  2013cites this paper
• Search For A New Deafness Locus By Linkage Analysis

  2012cites this paper
• Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

  2012cites this paper
• Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene.

  2012cites this paper
• Genetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans

  2012influential citation
• Autosomal recessive nonsyndromic deafness genes: a review.

  2012cites this paper
• A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

  2012cites this paper
• Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).

  2012cites this paper
• Genetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans

  2012influential citation
• Genomics and Bioinformatics: An Introduction to Programming Tools for Life Scientists

  2012cites this paper
• Genomic Analysis of Complex Disease in the Norfolk Island Bounty Mutineer Descendents

  2011cites this paper
• DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

  2011cites this paper
• Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

  2011cites this paper
• Cochlin Induced TREK-1 Co-Expression and Annexin A2 Secretion: Role in Trabecular Meshwork Cell Elongation and Motility

  2011cites this paper
• DFNB93, a novel locus for autosomal recessive moderate‐to‐severe hearing impairment

  2011cites this paper
• Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.

  2010cites this paper
• Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

  2010cites this paper
• Positional cloning of deafness genes.

  2009cites this paper
• A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.

  2008cites this paper
• Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

  2008cites this paper
• Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

  2008cites this paper
• 3.07 – Genetic Hearing Loss

  2008cites this paper
• Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus

  2007cites this paper
• The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3

  2007cites this paper
• Non‐syndromic, autosomal‐recessive deafness

  2006cites this paper
• Phenotype Determination Guides Swift Genotyping of a DFNA2/KCNQ4 Family With a Hot Spot Mutation (W276S)

  2005cites this paper
• Extracellular matrix and inner ear development and function

  2005cites this paper
• Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.

  2005cites this paper
• Evidence and implications of inhomogeneity in tectorial membrane elasticity.

  2004cites this paper
• A Genotype-Phenotype Correlation with Gender-Effect for Hearing Impairment Caused by TECTA Mutations

  2004cites this paper
• Col11a1 and col11a2 mRNA expression in the developing mouse Cochlea: Implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype

  2004cites this paper
• homozygosity mapping, Genetic mapping of a new Lafora progressive myoclonus epilepsy locus ( EPM2B ) on 6p22

  2004cites this paper
• Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios

  2003cites this paper
• Human nonsyndromic sensorineural deafness.

  2003cites this paper