PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
about
Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomasDigenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansSurvey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsA missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) miceMutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessDevelopment and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15.Autosomal recessive nonsyndromic deafness genes: a reviewA new spontaneous mutation in the mouse protocadherin 15 gene.Cadherins and mechanotransduction by hair cellsLarge genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndromeGenetics of Nonsyndromic Congenital Hearing LossReactive oxygen species, apoptosis, and mitochondrial dysfunction in hearing loss.Structures of usher syndrome 1 proteins and their complexesThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsPostsynaptic and differential localization to neuronal subtypes of protocadherin beta16 in the mammalian central nervous systemHCN1 and HCN2 proteins are expressed in cochlear hair cells: HCN1 can form a ternary complex with protocadherin 15 CD3 and F-actin-binding filamin A or can interact with HCN2A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouseVlgr1 is required for proper stereocilia maturation of cochlear hair cellsPhysical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cellsInteractions in the network of Usher syndrome type 1 proteinsRetinal transcriptome sequencing sheds light on the adaptation to nocturnal and diurnal lifestyles in raptorsFinding new genes for non-syndromic hearing loss through an in silico prioritization studyFCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro.Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Genetics of peripheral vestibular dysfunction: lessons from mutant mouse strains.Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways.Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy.Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.Calcium signaling in the cochlea - Molecular mechanisms and physiopathological implications.Function and expression pattern of nonsyndromic deafness genesA quantitative survey of gravity receptor function in mutant mouse strains.Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.Gene expression associated with the onset of hearing detected by differential display in rat organ of CortiNetwork-based bioinformatics analysis of spatio-temporal RNA-Seq data reveals transcriptional programs underpinning normal and aberrant retinal development.Differential expression of genes within the cochlea as defined by a custom mouse inner ear microarray.Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans.Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.
P2860
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P2860
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@ast
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@en
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@en-gb
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@nl
type
label
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@ast
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@en
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@en-gb
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@nl
prefLabel
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@ast
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@en
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@en-gb
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@nl
P2093
P3181
P356
P1476
PCDH15 is expressed in the neu ...... ible for both USH1F and DFNB23
@en
P2093
Andrew J Griffith
Edward R Wilcox
Inna A Belyantseva
Jamil Ahmad
Muhammad F Sabar
Paul Sieving
Saima Riazuddin
Sheikh Riazuddin
Steve L Bernstein
Thomas B Friedman
P304
P3181
P356
10.1093/HMG/DDG358
P407
P577
2003-12-15T00:00:00Z