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anti-Rat (Rattus) DFNA5 Antibodies:
anti-Human DFNA5 Antibodies:
anti-Mouse (Murine) DFNA5 Antibodies:
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Genetic variations in the EYA4 (show EYA4 Antibodies), GRHL2 (show GRHL2 Antibodies) and DFNA5 genes and their interactions with occupational noise exposure may play an important role in the incidence of noise-induced hearing loss (NIHL).
Study identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8.
We identified a novel c.991-2A>G mutation in DFNA5 which again may lead to exon 8 skipping at the mRNA level.
DFNA5 deletion mutation is associated with autosomal dominant hereditary hearing loss in Japanese families.
DFNA5 protein expression in hepatocellular carcinoma cells was significantly lower than that in normal cells.
DFNA5 is composed of two domains, separated by a hinge region. The first region induces apoptosis when transfected in HEK293T cells, the second region masks and probably regulates this apoptosis inducing capability
A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment.
A founder effect was demonstrated for the mutation of the DFNA5 gene casusing hearing loss in East Asians.
no significant linkage between age-related hearing impairment (ARHI (show DIRAS3 Antibodies)) and microsatellite markers from the DFNA5 region; there exists no strong association between DFNA5 and ARHI (show DIRAS3 Antibodies)
Here, we report another mutation in DFNA5, a CTT (show TNNT2 Antibodies) deletion in the polypyrimidine tract of intron 7.
These results suggest that DFNA5 plays a role in the p53 (show TP53 Antibodies)-regulated cellular response to genotoxic stress probably by cooperating with p53 (show TP53 Antibodies).
The identification of the cochlear transcription initiation site (TIS (show PDCD4 Antibodies)), the core promoter region between relative to the TIS (show PDCD4 Antibodies) and an enhancer and a silencer element of Dfna5, is described.
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene.
deafness, autosomal dominant 5
, deafness, autosomal dominant 5 homolog
, deafness, autosomal dominant 5 protein
, inversely correlated with estrogen receptor expression 1
, non-syndromic hearing impairment protein 5
, nonsyndromic hearing impairment protein
, hearing impairment protein DFNA5
, non-syndromic hearing impairment protein 5 homolog