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POU3F4 mutations can be predicted by incomplete partition type III anomaly by radiological examination of the inner ear. All six of the patients showed mixed hearing loss, but none showed fluctuations in hearing, which may be related to the lack of vestibular aqueduct enlargement at the operculum.
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Sequencing of the entire POU3F4 gene is recommended in patients with characteristic temporal bone malformations. Results of POU3F4 mutation testing are important not only for a proper genetic counseling, but also for adequate preparation and conduction of a surgical procedure.
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A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene.
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POU3F4 mutation in profoundly deaf patients may have poorer prognosis after cochlear implantation, than other types.
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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
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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.
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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
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POU3F4 mutations are associated with X-linked deafness
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We concluded that the probable presence of the third window effect is not limited to the particular type of POU3F4 mutation.
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Results show three novel mutations in the POU3F4 gene resulting in profound hearing loss in both humans and mice.
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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.
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Study found no mutations in GJB6 or POU3F4 in nonsyndromic Tibetan Chinese patients with hearing impairment.
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pou3f4 expression in inner ear might be under the control of distinct regulatory elements that fine-tune the spatio-temporal activity of this gene
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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.
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POU3F4 did not contribute to Y linked familial deafness in a Chinese pedigree.
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evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.
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novel mutations in the POU3F4 gene resulting in congenital X-linked deafness DFN3.
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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.
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Results strongly suggest that the deafness in DFN3 patients is largely due to the null function of POU3F4.
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The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients.
