anti-POU4F3 (POU4F3) Antikörper

Human POU Domain, Class 4, Transcription Factor 3 (POU4F3) Interaktionspartner

1. report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism

2. DFNA52 were mapped between STR (zeige STATH Antikörper) 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.

3. Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans.

4. 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.

5. results indicated GRHL2 (zeige GRHL2 Antikörper) 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

6. this study identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 within a large hearing impaired Chinese family.

7. This study showed that Mendelian sensorineural hearing loss exhibits vestibular dysfunction, including DFNA9 (zeige COCH Antikörper), DFNA11 (zeige MYO7A Antikörper), DFNA15 and DFNA28 (zeige GRHL2 Antikörper).

8. The pou4f3 gene is regulated by ATOH1 (zeige ATOH1 Antikörper) and other transcription factors in cochlear hair cells.

9. These data demonstrate that Nr2f2 (zeige NR2F1 Antikörper) is a direct target of POU4F3 in vitro and that this regulatory relationship may be relevant to hair cell development and survival.

10. new variants in genes such as POU4F3 is associated with nonsyndromic deafness and vestibular dysfunction

Mouse (Murine) POU Domain, Class 4, Transcription Factor 3 (POU4F3) Interaktionspartner

1. Atoh1 (zeige ATOH1 Antikörper) function in hair cell differentiation is modulated by interaction with other transcription factors, such as Gfi1 (zeige ZNF163 Antikörper) and Pou4f3. (Review)

2. These data illuminate a genetic pathway that initiates auditory HC regeneration and suggest p27(Kip1 (zeige CDKN1B Antikörper)), GATA3 (zeige GATA3 Antikörper), and POU4F3 as additional therapeutic targets for ATOH1 (zeige ATOH1 Antikörper)-mediated auditory hair cells regeneration.

3. These data demonstrate that Nr2f2 (zeige NR2F2 Antikörper) is a direct target of POU4F3 in vitro and that this regulatory relationship may be relevant to hair cell development and survival.

4. Data indicate that Brn3 (zeige POU4F1 Antikörper) transcription factors Brn3b (zeige POU4F2 Antikörper) affects Brn3a (zeige POU4F1 Antikörper) and Brn3c positive Retinal Ganglion Cells (RGCs) in cell autonomous and non-cell autonomous fashion.

5. induction of POU4F3 by TFE2 and GATA3 (zeige GATA3 Antikörper)

6. neither Brn3a (zeige POU4F1 Antikörper) nor Brn3c are expressed in intrinsically photosensitive retinal ganglion cells

7. Data show that Ap-2delta occupies and activates the Pou4f3 and Bhlhb4 (zeige BHLHE23 Antikörper) promoters.

8. Stress-granule-associated protein Caprin-1 is downregulated by Pou4f3.

9. Taken together, our data suggest that SHH (zeige SHH Antikörper) plays an important role in the promotion of auditory hair cell differentiation via the Math1 (zeige ATOH1 Antikörper)-Brn3.1 signaling pathway.

10. Brn3c null mice show severe compromised production of these neurotrophins and should therefore show a comparable pattern of nerve fiber loss.