Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.
about
Molecular complexes that direct rhodopsin transport to primary ciliaDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeThe E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammalsUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortiumThe cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Congenital deafness is associated with specific somatosensory deficits in adolescents.Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.MYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeCombined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.MALDI imaging mass spectrometry to investigate endogenous peptides in an animal model of Usher's disease.Bilateral uveitis and Usher syndrome: a case report.New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicingWhole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patientsTargeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.Visual function of children with visual and other disabilities in Oman: A case series.Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosisWhole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosaAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsThe very large G protein coupled receptor (Vlgr1) in hair cells.Genotype phenotype correlations for hearing impairment: approaches to management.Sorting out a promiscuous superfamily: towards cadherin connectomics.Photoreceptor Cilia and Retinal Ciliopathies.The genetics of hair-cell function in zebrafish.miRNA-mediated post-transcriptional silencing of transgenes leads to increased adeno-associated viral vector yield and targeting specificity.Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing RestorationA genomic region encompassing a newly identified exon provides enhancing activity sufficient for normal myo7aa expression in zebrafish sensory hair cells.Correlation between optical coherence tomography and multifocal electroretinogram findings with visual acuity in retinitis pigmentosa.Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
P2860
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P2860
Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@ast
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@en
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@nl
type
label
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@ast
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@en
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@nl
prefLabel
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@ast
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@en
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@nl
P1476
Usher syndrome (sensorineural ...... is and therapeutic approaches.
@en
P356
10.1097/WCO.0B013E32834EF8B2
P577
2012-02-01T00:00:00Z