Property Summary

NCBI Gene PubMed Count 35
PubMed Score 179.29
PubTator Score 139.47

Knowledge Summary

Patent

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Gene RIF (22)

PMID Text
26600195 POU3F4 mutation in profoundly deaf patients may have poorer prognosis after cochlear implantation, than other types.
26499074 findings may greatly contribute to the elucidation of the roles of the Oct and Myc proteins in osteoblast direct reprogramming. The results may also lead to establishment of novel regenerative therapy for various bone resorption diseases
25928534 POU3F4 mutations are associated with X-linked deafness
24687041 Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4.
24608376 Our data suggest that different POU3F4 mutations might show different recurrence rate in siblings of the incomplete partition type III anomaly especially in East Asian population
23606368 Results show three novel mutations in the POU3F4 gene resulting in profound hearing loss in both humans and mice.
23400403 We concluded that the probable presence of the third window effect is not limited to the particular type of POU3F4 mutation.
23076972 Frameshift truncation and extension mutations in the C-terminus of POU3F4 lead to cytoplasmic localization and subsequent proteosomal degradation due to structural aberrations, which cause transcriptional inactivity and thus nonsyndromic hearing loss.
22389666 Study found no mutations in GJB6 or POU3F4 in nonsyndromic Tibetan Chinese patients with hearing impairment.
21250553 novel mutations in the POU3F4 gene resulting in congenital X-linked deafness DFN3.
21209840 pou3f4 expression in inner ear might be under the control of distinct regulatory elements that fine-tune the spatio-temporal activity of this gene
21193157 DNA sequencing of the POU3F4 gene revealed a novel nucleotide variation, c.647G to A. The additional mutation confirms the crucial role of POU3F4 in auditory function.
20668882 Data suggest that multiple enhancers control the expression of Pou3f4 in the inner ear and these may contribute to the phenotype observed in DFN3 patients.
20412083 evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.
19930154 The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients.
19671658 Results strongly suggest that the deafness in DFN3 patients is largely due to the null function of POU3F4.
19438930 two novel mutations of the POU3F4 gene in X-linked deafness type 3 patients in the Korean population
16229168 POU3F4 did not contribute to Y linked familial deafness in a Chinese pedigree.
12062767 This publication describes mutations in a similar mouse gene.
12062767 model of DFN3 non-syndromic deafness
9889200 This publication describes mutations in a similar mouse gene.
9667433 This publication describes mutations in a similar mouse gene.

AA Sequence

MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTSLSDGGPWSST      1 - 70
LATSPLDQQDVKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAPNPSITSSGQPLNVYSQPGFT     71 - 140
VSGMLEHGGLTPPPAAASAQSLHPVLREPPDHGELGSHHCQDHSDEETPTSDELEQFAKQFKQRRIKLGF    141 - 210
TQADVGLALGTLYGNVFSQTTICRFEGLQLSFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRK    211 - 280
KRTSIEVSVKGVLETHFLKCPKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPGDQQPHEVYSH    281 - 350
TVKTDTSCHDL                                                               351 - 361
//

Text Mined References (35)

PMID Year Title
26600195 2016 Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.
26499074 2015 Transduction of Oct6 or Oct9 gene concomitant with Myc family gene induced osteoblast-like phenotypic conversion in normal human fibroblasts.
25928534 2015 Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
25130324 2014 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
24687041 2014 X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
24608376 2015 De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.
23606368 2013 Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
23400403 2013 Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations.
23076972 2013 Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation.
22455811 2012 [Prenatal genetic test and clinical guidance for 213 hereditary deaf families].
22389666 2012 Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.
22201925 2012 Nonsyndromic X-linked hearing loss.
21555964 2011 Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss.
21250553 2010 Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.
21209840 2010 Characterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns.
21193157 2010 Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
20668882 2010 Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.
20412083 2010 Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.
19930154 2009 Phenotype and genotype in females with POU3F4 mutations.
19671658 2009 Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
19438930 2009 Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants.
16229168 2005 [Detection of POU3F4 gene mutations in the Chinese pedigree with Y-linked hereditary hearing impairment].
15772651 2005 The DNA sequence of the human X chromosome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12062767 2002 Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses.
9889200 1999 A role for the POU-III transcription factor Brn-4 in the regulation of striatal neuron precursor differentiation.
9778298 1998 A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).
9667433 1998 Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule.
9298820 1997 The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.
9131020 1996 Transcribed sequences encoded in the region involved in contiguous deletion syndrome that comprises X-linked stapes fixation and deafness.
9105675 1997 The class III POU factor Brn-4 interacts with other class III POU factors and the heterogeneous nuclear ribonucleoprotein U.
8791518 1996 Transcription factors in disease.
7911044 1994 The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes.
7839145 1995 Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
7581392 1995 Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.