Property Summary

NCBI Gene PubMed Count 35
Grant Count 40
R01 Count 30
Funding $6,600,179.79
PubMed Score 179.29
PubTator Score 139.47

Knowledge Summary

Patent

No data available

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.
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AA Sequence

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