| Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects. | Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.
Lee SY, Kim MY, Han JH, Park SS, Yun Y, Jee SC, Han JJ, Lee JH, Seok H, Choi BY., Free PMC Article | 08/7/2023 |
| Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses. | Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Singh S, Penney C, Griffin A, Woodland G, Werdyani S, Benteau TA, Abdelfatah N, Squires J, King B, Houston J, Dyer MJ, Roslin NM, Vincent D, Marquis P, O'Rielly DD, Hodgkinson K, Burt T, Baker A, Stanton SG, Young TL., Free PMC Article | 07/24/2023 |
| A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities. | A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
Bai D, Zhang X, Li Y, Ni J, Lan K., Free PMC Article | 09/25/2021 |
| Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. | Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Cui TY, Gao X, Huang SS, Sun YY, Zhang SQ, Jiang XX, Yang YZ, Kang DY, Zhu QW, Yuan YY., Free PMC Article | 07/3/2021 |
| Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families. | Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
Bai X, Zhang F, Xiao Y, Jin Y, Zheng Q, Wang H, Xu L., Free PMC Article | 05/1/2021 |
| Findings expanded the mutation spectrum of POU4F3 and suggest the pathogenesis associated with aberrant POU4F3 localization. | A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.
Lin YH, Lin YH, Lu YC, Liu TC, Chen CY, Hsu CJ, Chen PL, Wu CC., Free PMC Article | 03/2/2019 |
| POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss. | A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
Gao X, Xu JC, Wang WQ, Yuan YY, Bai D, Huang SS, Wang GJ, Su Y, Li J, Kang DY, Zhang MG, Lin X, Dai P., Free PMC Article | 10/6/2018 |
| report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism | A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.
Zhang C, Wang M, Xiao Y, Zhang F, Zhou Y, Li J, Zheng Q, Bai X, Wang H., Free PMC Article | 10/28/2017 |
| 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. | [Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
Bu FX, Peng Y, Wang SH, Pan Q, Hu ZM, Gong HY, Zhang J, Wu LQ, Liang DS, Pan Q, Feng Y, Xia K, Xia JH. | 09/28/2017 |
| Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans. | Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.
He L, Pang X, Chen P, Wu H, Yang T., Free PMC Article | 09/23/2017 |
| 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. | POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI., Free PMC Article | 09/16/2017 |
| 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 | Genetic Variation in POU4F3 and GRHL2 Associated with Noise-Induced Hearing Loss in Chinese Population: A Case-Control Study.
Xu X, Yang Q, Jiao J, He L, Yu S, Wang J, Gu G, Chen G, Zhou W, Wu H, Li Y, Zhang H., Free PMC Article | 08/5/2017 |
| this study identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 within a large hearing impaired Chinese family. | Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.
Cai XZ, Li Y, Xia L, Peng Y, He CF, Jiang L, Feng Y, Xia K, Liu XZ, Mei LY, Hu ZM. | 05/27/2017 |
| This study showed that Mendelian sensorineural hearing loss exhibits vestibular dysfunction, including DFNA9, DFNA11, DFNA15 and DFNA28. | Genetics of vestibular disorders: pathophysiological insights.
Frejo L, Giegling I, Teggi R, Lopez-Escamez JA, Rujescu D., Free PMC Article | 01/14/2017 |
| The pou4f3 gene is regulated by ATOH1 and other transcription factors in cochlear hair cells. | Transcription factors with conserved binding sites near ATOH1 on the POU4F3 gene enhance the induction of cochlear hair cells.
Ikeda R, Pak K, Chavez E, Ryan AF., Free PMC Article | 03/19/2016 |
| 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. | Regulation of the orphan nuclear receptor Nr2f2 by the DFNA15 deafness gene Pou4f3.
Tornari C, Towers ER, Gale JE, Dawson SJ., Free PMC Article | 11/28/2015 |
| Data indicate that POUF4F3 deletion associated with hearing impairment. | Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.
Freitas ÉL, Oiticica J, Silva AG, Bittar RS, Rosenberg C, Mingroni-Netto RC. | 12/20/2014 |
| new variants in genes such as POU4F3 is associated with nonsyndromic deafness and vestibular dysfunction | Genetics of dizziness: cerebellar and vestibular disorders.
Requena T, Espinosa-Sanchez JM, Lopez-Escamez JA. | 08/16/2014 |
| SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). | SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW., Free PMC Article | 07/12/2014 |
| 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. | A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss.
Lee HK, Park HJ, Lee KY, Park R, Kim UK. | 07/12/2010 |
| 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. | Molecular modelling insights into DFNA15 mediated enhancement of POU4F3 stability.
Frenz CM, Lefebvre PP. | 02/22/2010 |
| extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia in cochleovestibular disease | Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.
van Drunen FJ, Pauw RJ, Collin RW, Kremer H, Huygen PL, Cremers CW. | 01/21/2010 |
| Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P. | Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.
de Heer AM, Huygen PL, Collin RW, Kremer H, Cremers CW. | 01/21/2010 |
| report presents a detailed audiometric analysis of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in the POU4F3 gene | Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.
Pauw RJ, van Drunen FJ, Collin RW, Huygen PL, Kremer H, Cremers CW. | 01/21/2010 |
| Mutation analysis of the POU4F3 gene in 30 patients suffering from dominantly inherited hearing impairment revealed a second novel missense mutation (c.668T>C). | Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.
Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H., Free PMC Article | 01/21/2010 |