POU4F3 Antibody

1. POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss. PMID: 29850532
2. report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism PMID: 27999687
3. DFNA52 were mapped between STR 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. PMID: 19138900
4. Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans. PMID: 28053790
5. 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. PMID: 28545070
6. results indicated GRHL2 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 PMID: 27271650
7. this study identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 within a large hearing impaired Chinese family. PMID: 27535032
8. The pou4f3 gene is regulated by ATOH1 and other transcription factors in cochlear hair cells. PMID: 25015561
9. These data demonstrate that Nr2f2 is a direct target of POU4F3 in vitro and that this regulatory relationship may be relevant to hair cell development and survival. PMID: 25372459
10. Data indicate that POUF4F3 deletion associated with hearing impairment. PMID: 24556497
11. new variants in genes such as POU4F3 is associated with nonsyndromic deafness and vestibular dysfunction PMID: 24275721
12. SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PMID: 24260153
13. This is the first report of a POU4F3 mutation in Asia, and moreover our data suggest that further investigation will need to delineate ethnicity-specific genetic background for autosomal dominant non-syndromic hearing loss within Asian populations. PMID: 20434433
14. Molecular modelling is utilised to propose a mechanism of stability enhancement, via an interaction between the truncated POU(HD) domain and the POU(S) domain of the transcription factor. PMID: 20054994
15. Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma PMID: 12209986
16. Mutant POU4F3 loses most of its transcriptional activity and most of its ability to bind to DNA. The mutation causes autosomal-dominant nonsyndromic hearing loss and eventually leads to hair cell morbidity in affected family H members. PMID: 14585957
17. Data show that Brn-3c is capable of activating both BDNF and NT-3 promoters in inner ear sensory epithelial cell lines. PMID: 15465029
18. our data show there are common sequence variants in the Brn-3c 5'-flanking region that affect transcriptional regulation in vitro PMID: 17611044
19. Mutation analysis of the POU4F3 gene in 30 patients suffering from dominantly inherited hearing impairment revealed a second novel missense mutation (c.668T>C). PMID: 18228599
20. report presents a detailed audiometric analysis of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in the POU4F3 gene PMID: 18347256
21. extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia in cochleovestibular disease PMID: 19372648
22. Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P. PMID: 19462854

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HGNC: 9220

OMIM: 602459

KEGG: hsa:5459

STRING: 9606.ENSP00000230732

UniGene: Hs.553499