Background: Alpha-tectorin is a noncollagenous component of the tectorial membrane which plays an essential role in auditory transduction. In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation. Methods/Results: Here we report a Turkish family displaying autosomal dominant inherited HI. Linkage analysis revealed significant cosegregation (LOD score: 4.6) of the disease to markers on chromosome 11q23.3- q24. This region contains the TECTA gene which was subsequently sequenced. A nucleotide change in exon 13, 4526T>G, was detected leading to a substitution from cysteine to glycine at codon 1509 of the TECTA...
An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-freque...
Abstract Background To date, 102 genes have been reported as responsible for non-syndromic hearing l...
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bun...
WOS: 000223489700021PubMed ID: 15319541Background: Alpha-tectorin is a noncollagenous component of t...
Mutations in the TECTA gene result in sensorineural non-syndromic hearing impairment. TECTA-related ...
A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant s...
TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA...
Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission...
<div><p>Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the tran...
TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA...
Contains fulltext : 80694.pdf (publisher's version ) (Closed access)A novel TECTA ...
In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafn...
Abstract Background Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-sy...
International audienceCongenital deafness is certainly one of the most common monogenic diseases in ...
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (A...
An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-freque...
Abstract Background To date, 102 genes have been reported as responsible for non-syndromic hearing l...
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bun...
WOS: 000223489700021PubMed ID: 15319541Background: Alpha-tectorin is a noncollagenous component of t...
Mutations in the TECTA gene result in sensorineural non-syndromic hearing impairment. TECTA-related ...
A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant s...
TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA...
Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission...
<div><p>Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the tran...
TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA...
Contains fulltext : 80694.pdf (publisher's version ) (Closed access)A novel TECTA ...
In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafn...
Abstract Background Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-sy...
International audienceCongenital deafness is certainly one of the most common monogenic diseases in ...
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (A...
An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-freque...
Abstract Background To date, 102 genes have been reported as responsible for non-syndromic hearing l...
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bun...