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Human Polyclonal POU4F3 Primary Antibody for ELISA - ABIN562324
Chen, Johnson, Marcotti, Andrews, Moore, Rivolta: Human fetal auditory stem cells can be expanded in vitro and differentiate into functional auditory neurons and hair cell-like cells. in Stem cells (Dayton, Ohio) 2009
Human Polyclonal POU4F3 Primary Antibody for ELISA, WB - ABIN4346890
van Drunen, Pauw, Collin, Kremer, Huygen, Cremers: Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3. in Audiology & neuro-otology 2009
report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism
DFNA52 were mapped between STR (show STATH Antibodies) D5S2056 and D5S638 on chromosome, and analysis candidate genes in this region did not reveal any potentially pathogenic mutations segregating with congenital sensorineural hearing loss.
Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans.
Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants) were successfully identified in 15 probands (2.5%) among 602 families exhibiting autosomal dominant hearing loss, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown hearing loss.
results indicated GRHL2 (show GRHL2 Antibodies) might be a noise-induced hearing loss (NIHL) susceptibility gene, but the effect of POU4F3 on NIHL could only be detected when taking noise exposure into account and their effects were enhanced by higher levels of noise exposure
this study identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 within a large hearing impaired Chinese family.
This study showed that Mendelian sensorineural hearing loss exhibits vestibular dysfunction, including DFNA9 (show COCH Antibodies), DFNA11 (show MYO7A Antibodies), DFNA15 and DFNA28 (show GRHL2 Antibodies).
The pou4f3 gene is regulated by ATOH1 (show ATOH1 Antibodies) and other transcription factors in cochlear hair cells.
These data demonstrate that Nr2f2 (show NR2F1 Antibodies) is a direct target of POU4F3 in vitro and that this regulatory relationship may be relevant to hair cell development and survival.
new variants in genes such as POU4F3 is associated with nonsyndromic deafness and vestibular dysfunction
identify separate enhancers at various locations of pou4f3 gene that direct expression to different inner ear hair cells types at different ages and determine that 0.4 kb of upstream sequence determines expression level
Atoh1 (show ATOH1 Antibodies) function in hair cell differentiation is modulated by interaction with other transcription factors, such as Gfi1 (show ZNF163 Antibodies) and Pou4f3. (Review)
These data illuminate a genetic pathway that initiates auditory HC regeneration and suggest p27(Kip1 (show CDKN1B Antibodies)), GATA3 (show GATA3 Antibodies), and POU4F3 as additional therapeutic targets for ATOH1 (show ATOH1 Antibodies)-mediated auditory hair cells regeneration.
These data demonstrate that Nr2f2 (show NR2F2 Antibodies) is a direct target of POU4F3 in vitro and that this regulatory relationship may be relevant to hair cell development and survival.
Data indicate that Brn3 (show POU4F1 Antibodies) transcription factors Brn3b (show POU4F2 Antibodies) affects Brn3a (show POU4F1 Antibodies) and Brn3c positive Retinal Ganglion Cells (RGCs) in cell autonomous and non-cell autonomous fashion.
induction of POU4F3 by TFE2 and GATA3 (show GATA3 Antibodies)
neither Brn3a (show POU4F1 Antibodies) nor Brn3c are expressed in intrinsically photosensitive retinal ganglion cells
Data show that Ap-2delta occupies and activates the Pou4f3 and Bhlhb4 (show BHLHE23 Antibodies) promoters.
Stress-granule-associated protein Caprin-1 is downregulated by Pou4f3.
Taken together, our data suggest that SHH (show SHH Antibodies) plays an important role in the promotion of auditory hair cell differentiation via the Math1 (show ATOH1 Antibodies)-Brn3.1 signaling pathway.
This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15.
POU class 4 homeobox 3
, POU domain, class 4, transcription factor 3
, brain-specific homeobox/POU domain protein 3
, brain-specific homeobox/POU domain protein 3C
, brain POU domain gene 3.1
, brain-specific homeobox/POU domain protein 3.1
, brain-specific homeobox POU domain protein 3C