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Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4 (zeige EYA4 Antikörper)), DFNA8/12 (TECTA), DFNA13 (COL11A2 (zeige COL11A2 Antikörper)), DFNA44 (CCDC50 (zeige CCDC50 Antikörper)), have been reported to date. [review]
A novel homozygous variant (c.734G > A) was found in exon 5 of the TECTA gene in one family leading to a nonsense mutation causing autosomal recessive nonsyndromic hearing loss.
To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment
the present report suggest that the association of RWDD3 (zeige RWDD3 Antikörper) and TECTA with paclitaxel-induced peripheral neuropathy may have been a false positive signal
Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin (zeige NID1 Antikörper) domain of the known deafness gene TECTA.
Identified the c.211delC mutation in the KCNQ4 (zeige KCNQ4 Antikörper) gene and the c.2967C>A (p.H989Q) mutation in the TECTA gene to be associated with high-frequency sensorineural hearing loss in a Japanese family.
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
Data indicate that sequencing of candidate gene TECTA (alpha-tectorin) revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp (zeige ASIP Antikörper) at a conservative position 1982.
this study failed to replicate a GWAS reporting an association between the 2 SNPs rs2296308 in RWDD3 (zeige RWDD3 Antikörper) and rs1829 in the intron of TECTA and time to neuropathy in ovarian cancer patients treated with paclitaxel
we have reported the prevalence of TECTA mutations in Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) patients detected by genetic screening, and confirmed the genotype-phenotype correlations.
Alpha-tectorin and beta-tectorin (zeige TECTB Antikörper) crosslink type II collagen (zeige COL2A1 Antikörper) fibrils and connect the tectorial membrane to the spiral limbus.
Tecta mutant mice all exhibit an enhanced tendency to have audiogenic seizures in response to white noise stimuli.
CEACAM16 (zeige CEACAM16 Antikörper) can probably form higher order structures with other tectorial membrane proteins such as alpha-tectorin and beta-tectorin (zeige TECTB Antikörper) and influences the physical properties of the tectorial membrane
The morphology and mechanical properties of wild-type, heterozygous, and homozygous Tecta tecta membrane, were analysed.
In Tecta(Y)(1870C/+) mice, the tectorin content of the tectorial membrane was reduced, as was the content of glycoconjugates reacting with the lectin wheat germ agglutinin.
The Tecta (A349D/A349D) mouse reveals that missense mutations in Tecta can be recessive and lead to tectorial membrane detachment
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness.
, alpha tectorin