Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
about
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Autosomal recessive nonsyndromic deafness genes: a reviewGenetics of Nonsyndromic Congenital Hearing LossThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsFinding new genes for non-syndromic hearing loss through an in silico prioritization studyMurine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function.Noise-induced cochlear F-actin depolymerization is mediated via ROCK2/p-ERM signalingGenetics of auditory mechano-electrical transduction.Large membrane domains in hair bundles specify spatially constricted radixin activation.Actin in hair cells and hearing loss.Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.Function and expression pattern of nonsyndromic deafness genesDifferential involvement of ezrin/radixin/moesin proteins in sphingosine 1-phosphate-induced human pulmonary endothelial cell barrier enhancementERM proteins at a glanceCLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI.Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX GeneChallenges and solutions for gene identification in the presence of familial locus heterogeneity.Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.New treatment options for hearing loss.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cellsThe BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrityThe study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district PeshawarNoise stresses the junctions to deaf.Identification and functional implication of a Rho kinase-dependent moesin-EBP50 interaction in noradrenaline-stimulated artery.Staurosporine-induced collapse of cochlear hair bundles.miRNA mutations are not a common cause of deafness.A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
P2860
Q24300298-18309FD5-0424-4FA5-9C3C-94C04670A940Q24611997-ECFACE45-60AF-4D70-87A9-C413AFE45693Q26753842-1EBF760D-3628-4726-9070-4EB3FD28897EQ28087697-6C24546C-17FD-4A86-A65B-94C1A30D8F5AQ28749118-14B6C094-F4D9-41F4-82B1-02E13C6D07FFQ29347270-F8A7776F-FC46-4C15-991D-FE50D95AB175Q30382426-3C0230F7-EB4C-44D5-8F59-DDBEB8733238Q30421422-C4C91D93-7A39-4329-A7C7-1C27D97CF35CQ30424853-05D39818-40EB-4B48-969A-1B85FCFFA779Q30454015-2CEA96F1-3320-480D-8AAA-4BE0FA1A1D12Q30463528-79A725E0-327E-4888-BB16-5C80BC6F5E06Q30482629-A29A6721-317E-419C-BEFE-90EC575EE053Q30539732-B89DD402-26F0-4DF0-959D-DA26BC1114D5Q33980498-471AABE7-8895-4F87-9978-A213199D9646Q35795161-88BC2E15-FCD2-4B1F-AC99-8E0A31B59538Q35910328-86324CEE-7332-4B45-A345-E36BE408387FQ35959689-6D4E260A-72E8-48D3-90FA-101728A84A52Q36289232-1277C9B1-F916-4C5B-A693-B3904F61BC75Q36559143-1E1BEBAC-8648-468C-896E-691346FC031EQ36680215-BBFAB8C8-F6E6-4455-8C1F-C2C39DFEE943Q37170113-2B7B6719-4655-4D72-BFC8-927A23924923Q37782545-02238193-5B69-4EB9-BD19-DFDFD9779140Q38178411-5E26AC6E-9BFA-4A39-9866-29DA36F82B5FQ38384722-9AE0D5E1-5DB9-4A31-A1D4-D7FB9E1E9AC7Q38393019-54A62297-412E-4B28-9C5B-48318B613C4FQ38612571-AC853E21-28E8-4C5F-8FCE-13C44C9F98C7Q40052599-6A769793-7BC4-4335-BA22-0FC95F0BF7D4Q41011996-5B78A638-3917-47A4-9232-B04F9FDF5BA5Q41434111-F3757B42-392D-49FB-B2BB-75B953DD4AD9Q42206172-87356F30-0AB7-4B18-B695-FB17204E18CEQ42868138-B6B78E27-1463-438F-BE26-E04F63599D28Q43137845-6E2EBBD2-813B-481C-97A2-2FA5C8BD4487Q52598841-B1E98675-FD50-4969-B9D2-F862459E3E5BQ55051482-2CF40BC5-C706-4A90-AC75-523E2F6A3B6C
P2860
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
description
2007 nî lūn-bûn
@nan
2007 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@ast
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@en
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@nl
type
label
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@ast
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@en
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@nl
prefLabel
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@ast
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@en
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@nl
P2093
P3181
P356
P1433
P1476
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
@en
P2093
Arabandi Ramesh
Muhammad I Shabbir
Richard J H Smith
Saba Tasneem
Saeeda Kalsoom
Saima Riazuddin
Sara Shayiq
Shaheen N Khan
Shahid Y Khan
Sheikh Riazuddin
P2860
P304
P3181
P356
10.1002/HUMU.20469
P407
P577
2007-05-01T00:00:00Z