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DFNA5 methylation and expression were significantly different between breast cancer and normal breast samples. DFNA5 methylation, in 10 out of 22 CpGs, and expression were significantly higher in lobular compared to ductal breast cancers.
Study demonstrated that in addition to its pyroptotic activity, GSDME augments caspase-3/7 activation and apoptotic cell death by targeting the mitochondria and releasing cytochrome c. Like Bid, cleavage of GSDME by death receptor signaling bridges the extrinsic to the intrinsic apoptotic pathway.
the first exonic mutations in DFNA5 to cause deafness, are reported.
DFNA5 variant is associated with tobacco- and HPV-mediated oral oncogenesis.
DFNA5 methylation shows strong potential as a biomarker for detection of breast cancer. Slightly increased methylation in histologically normal breast tissue surrounding the tumor suggests that it may be a good early detection marker.
In conclusion, our findings firstly revealed that GSDME switches chemotherapy drug-induced caspase-3 dependent apoptosis into pyroptosis in gastric cancer cells.
findings suggest that caspase-3 activation can trigger necrosis by cleaving GSDME and offer new insights into cancer chemotherapy
Genetic variations in the EYA4, GRHL2 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) and microsatellite markers from the DFNA5 region; there exists no strong association between DFNA5 and ARHI
Here, we report another mutation in DFNA5, a CTT deletion in the polypyrimidine tract of intron 7.
A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined.
These results suggest that DFNA5 plays a role in the p53-regulated cellular response to genotoxic stress probably by cooperating with p53.
description of a DFNA5 mutation: the insertion of a cytosine at nucleotide position 640 (AF073308.1:_c.640insC, AAC69324.1:_p. Thr215HisfsX8) which does not lead to hearing impairment
Using an in vivo mouse model of B16 melanoma, study demonstrated that GSDME may possess a bona fide tumor suppressor activity as GSDME-deficient melanoma cells form and grow larger tumors than their wild-type counterparts.
Authors show that caspase-8 activation during TAK1 inhibition results in cleavage of both gasdermin D (GSDMD) and gasdermin E (GSDME) in murine macrophages, resulting in pyroptosis.
gasdermin-D is required for IL-1beta secretion by macrophages, dendritic cells and partially in neutrophils, and that secretion is a cell-lysis-independent event.
Because DFNA5-induced secondary necrosis and GSDMD-induced pyroptosis are dependent on CASP3 activation, we propose that they are forms of programmed necrosis.
The identification of the cochlear transcription initiation site (TIS), the core promoter region between relative to the TIS 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