Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
about
Congenital sensorineural deafness in dalmatian dogs associated with quantitative trait lociIntegrating the biophysical and molecular mechanisms of auditory hair cell mechanotransductionAutosomal recessive nonsyndromic deafness genes: a reviewAudiogenic reflex seizures in cats.The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsHair cells use active zones with different voltage dependence of Ca2+ influx to decompose sounds into complementary neural codes.A Chromosome 17 Locus Engenders Frequency-Specific Non-Progressive Hearing Loss that Contributes to Age-Related Hearing Loss in Mice.Postnatal developmental changes in the medial nucleus of the trapezoid body in a mouse model of auditory pathology.Functional proteomics, human genetics and cancer biology of GIPC family membersHigh-frequency sensorineural hearing loss and its underlying genetics (Hfhl1 and Hfhl2) in NIH Swiss mice.Genome-wide association study for age-related hearing loss (AHL) in the mouse: a meta-analysisStructure analyses reveal a regulated oligomerization mechanism of the PlexinD1/GIPC/myosin VI complexGipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear.Progress and prospects in human genetic research into age-related hearing impairment.Challenges in whole exome sequencing: an example from hereditary deafness.Molecular characterization and ligand binding specificity of the PDZ domain-containing protein GIPC3 from Schistosoma japonicum.Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pEPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing lossEzrin-anchored protein kinase A coordinates phosphorylation-dependent disassembly of a NHERF1 ternary complex to regulate hormone-sensitive phosphate transportA QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J miceMutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentA p.C343S missense mutation in PJVK causes progressive hearing lossThe c.42_52del11 mutation in TPRN and progressive hearing loss in a family from PakistanGenetics: advances in genetic testing for deafness.New treatment options for hearing loss.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Filopodia formation and endosome clustering induced by mutant plus-end-directed myosin VI.Ephrin-A5/EphA4 signalling controls specific afferent targeting to cochlear hair cells.Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.Survival of BRCA2-Deficient Cells Is Promoted by GIPC3, a Novel Genetic Interactor of BRCA2.A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
P2860
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P2860
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Gipc3 mutations associated wit ...... earing loss in mouse and human
@nl
Gipc3 mutations associated wit ...... aring loss in mouse and human.
@ast
Gipc3 mutations associated wit ...... aring loss in mouse and human.
@en
type
label
Gipc3 mutations associated wit ...... earing loss in mouse and human
@nl
Gipc3 mutations associated wit ...... aring loss in mouse and human.
@ast
Gipc3 mutations associated wit ...... aring loss in mouse and human.
@en
prefLabel
Gipc3 mutations associated wit ...... earing loss in mouse and human
@nl
Gipc3 mutations associated wit ...... aring loss in mouse and human.
@ast
Gipc3 mutations associated wit ...... aring loss in mouse and human.
@en
P2093
P2860
P356
P1476
Gipc3 mutations associated wit ...... earing loss in mouse and human
@en
P2093
Andrea Lelli
Arabandi Ramesh
C R Srikumari Srisailapathy
Hannie Kremer
Harold R Neely
Jaap Oostrik
Jeffrey R Holt
John K Northup
Joseph R Latoche
Kausik Ray
P2860
P2888
P356
10.1038/NCOMMS1200
P407
P577
2011-02-15T00:00:00Z
P5875
P6179
1001388092