Matches in SemOpenAlex for { <https://semopenalex.org/work/W2006356064> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2006356064 abstract "ProblemPug is an ENU mutated mouse model for X-linked dominant hypophosphatemic rickets (XLH) in human. Mapping and sequence analysis revealed that Pug mutation is a unique Phe-to-Ser transition at amino acid 80 of PHEX protein leading to the loss of Phex function. Patients with XLH and Pug mutant mice exhibit abnormal phenotypes including growth retardation, hypophosphatemia and osteomalacia. In addition, hearing impairment was also found in some hypophosphatemic mouse models and patients. Here, we used the Pug mutant mice to study the role of Phex gene in the pathology of hearing impairment.MethodsAuditory brainstem responses(ABR) to click and 8,16,32kHz stimuli were employed to measure pug mice of 1–8 months old. Serial sections were used to detect the abnormalities involving the temporal bone, stria vascularis, the organ of Corti, spiral ganglion cells, and scanning electron microscopy was performed to exam the basilar membrane of pug mice.ResultsAuditory brainstem responses test showed that Pug mice have elevated hearing thresholds. Histology analysis demonstrated a thickened temporal bone with many interspersed areas of nonmineralization surrounding the mutant cochlea and decreased numbers of neuronal processes in the organ of Corti, mostly in basal turns. Furthermore, abnormal stereocilia of inner and outer hair cells of the Corti organ were identified by scanning electron microscopy. Inner and outer hair cells were also greatly reduced in Pug mice.ConclusionThe impaired hearing function and the morphological abnormalities of inner ears are induced by the mutation of Phex gene.SignificancePug mice have structural and functional defects in the inner ear and may serve as a new disease model of sensorineural deafness.SupportThis work was supported by the ground of JiangSu Province Femouse Doctor Project(RC2007010)." @default.
- W2006356064 created "2016-06-24" @default.
- W2006356064 creator A5001807566 @default.
- W2006356064 date "2008-08-01" @default.
- W2006356064 modified "2023-10-18" @default.
- W2006356064 title "R448 – Phex Mutation Causes Sensorineural Deafness in Mice" @default.
- W2006356064 doi "https://doi.org/10.1016/j.otohns.2008.05.604" @default.
- W2006356064 hasPublicationYear "2008" @default.
- W2006356064 type Work @default.
- W2006356064 sameAs 2006356064 @default.
- W2006356064 citedByCount "0" @default.
- W2006356064 crossrefType "journal-article" @default.
- W2006356064 hasAuthorship W2006356064A5001807566 @default.
- W2006356064 hasConcept C104317684 @default.
- W2006356064 hasConcept C105702510 @default.
- W2006356064 hasConcept C124490489 @default.
- W2006356064 hasConcept C134018914 @default.
- W2006356064 hasConcept C142724271 @default.
- W2006356064 hasConcept C143065580 @default.
- W2006356064 hasConcept C2776338720 @default.
- W2006356064 hasConcept C2776489590 @default.
- W2006356064 hasConcept C2776557274 @default.
- W2006356064 hasConcept C2778500370 @default.
- W2006356064 hasConcept C2778585322 @default.
- W2006356064 hasConcept C2779152698 @default.
- W2006356064 hasConcept C2780130748 @default.
- W2006356064 hasConcept C2780493683 @default.
- W2006356064 hasConcept C2780607864 @default.
- W2006356064 hasConcept C2780659331 @default.
- W2006356064 hasConcept C54355233 @default.
- W2006356064 hasConcept C548259974 @default.
- W2006356064 hasConcept C71924100 @default.
- W2006356064 hasConcept C86803240 @default.
- W2006356064 hasConceptScore W2006356064C104317684 @default.
- W2006356064 hasConceptScore W2006356064C105702510 @default.
- W2006356064 hasConceptScore W2006356064C124490489 @default.
- W2006356064 hasConceptScore W2006356064C134018914 @default.
- W2006356064 hasConceptScore W2006356064C142724271 @default.
- W2006356064 hasConceptScore W2006356064C143065580 @default.
- W2006356064 hasConceptScore W2006356064C2776338720 @default.
- W2006356064 hasConceptScore W2006356064C2776489590 @default.
- W2006356064 hasConceptScore W2006356064C2776557274 @default.
- W2006356064 hasConceptScore W2006356064C2778500370 @default.
- W2006356064 hasConceptScore W2006356064C2778585322 @default.
- W2006356064 hasConceptScore W2006356064C2779152698 @default.
- W2006356064 hasConceptScore W2006356064C2780130748 @default.
- W2006356064 hasConceptScore W2006356064C2780493683 @default.
- W2006356064 hasConceptScore W2006356064C2780607864 @default.
- W2006356064 hasConceptScore W2006356064C2780659331 @default.
- W2006356064 hasConceptScore W2006356064C54355233 @default.
- W2006356064 hasConceptScore W2006356064C548259974 @default.
- W2006356064 hasConceptScore W2006356064C71924100 @default.
- W2006356064 hasConceptScore W2006356064C86803240 @default.
- W2006356064 hasIssue "S2" @default.
- W2006356064 hasLocation W20063560641 @default.
- W2006356064 hasOpenAccess W2006356064 @default.
- W2006356064 hasPrimaryLocation W20063560641 @default.
- W2006356064 hasRelatedWork W1964248735 @default.
- W2006356064 hasRelatedWork W1964572263 @default.
- W2006356064 hasRelatedWork W2006356064 @default.
- W2006356064 hasRelatedWork W2009018206 @default.
- W2006356064 hasRelatedWork W2143032922 @default.
- W2006356064 hasRelatedWork W2381170239 @default.
- W2006356064 hasRelatedWork W2971428538 @default.
- W2006356064 hasRelatedWork W2976085360 @default.
- W2006356064 hasRelatedWork W3135364577 @default.
- W2006356064 hasRelatedWork W4313596500 @default.
- W2006356064 hasVolume "139" @default.
- W2006356064 isParatext "false" @default.
- W2006356064 isRetracted "false" @default.
- W2006356064 magId "2006356064" @default.
- W2006356064 workType "article" @default.