Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
about
ESDN, a novel neuropilin-like membrane protein cloned from vascular cells with the longest secretory signal sequence among eukaryotes, is up-regulated after vascular injuryA novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.NMR structure of the LCCL domain and implications for DFNA9 deafness disorderIsolation from cochlea of a novel human intronless gene with predominant fetal expressionSubcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9Genetics of vestibular disorders: pathophysiological insightsGenetics of Nonsyndromic Congenital Hearing LossGenetics of hearing and deafnessHigh prevalence of symptoms of Menière's disease in three families with a mutation in the COCH geneMutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's diseaseIntegration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner earHearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.Finding new genes for non-syndromic hearing loss through an in silico prioritization studyDifferent Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.Cochlin expression in vestibular endorgans obtained from patients with Meniere's disease.Current aspects of hearing loss from occupational and leisure noiseGene discovery in the auditory system: characterization of additional cochlear-expressed sequences.A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunctionExpression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient miceCochlin and glaucoma: a mini-review.A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.At the speed of sound: gene discovery in the auditory systemHereditary non-syndromic sensorineural hearing loss: transforming silence to soundA subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear.Molecular screens for inner ear genes.Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.Beginning of a molecular era in hearing and deafness.Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin.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.Inner ear proteomics of mouse models for deafness, a discovery strategy.Role of protein misfolding in DFNA9 hearing loss.COCH transgene expression in cultured human trabecular meshwork cells and its effect on outflow facility in monkey organ cultured anterior segments.Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.The LCCL module.Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from PakistanGene expression profiling elucidates a specific role for RARgamma in the retinoic acid-induced differentiation of F9 teratocarcinoma stem cellsAK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineagesPolymorphisms of CD16A and CD32 Fcγ receptors and circulating immune complexes in Ménière's disease: a case-control study
P2860
Q24291432-A5153A44-BF00-440A-B994-6117F5643A59Q24324025-ECC214D0-9B84-4F30-A787-C6FCCC8287CAQ24535809-C5565A64-D31A-4B05-A9E6-D2725A41A519Q24650440-CB51AD5B-1AD5-475A-9AA7-8FBE41968609Q24676750-16E24CF6-E315-47D3-83B0-2CF0644353A6Q26753131-2341A432-DCB1-4D7F-8AD0-EEBC4D1C111DQ26753842-F2069F9B-082D-43D1-BDB4-89A64B64685BQ26865293-0A4EB682-7844-45A5-9A6B-38773349D763Q28139351-0007D9AF-049F-4B52-92EF-397AEB707DEBQ28205212-7CCA5AE9-A9ED-48A5-8C47-768C9BDA74B6Q28477652-464D33F0-9155-493D-B60D-5414A9147494Q28511832-FDD9B165-7A3C-4E09-B40F-040C12B2755EQ28749118-EDE669D9-2307-4885-B7BD-3619680617DCQ30364085-939D4227-2537-48E3-9E7F-81D6ED9494D2Q30412669-DF9D0BB8-85B8-41AA-B990-C8BF006B74DDQ30473044-F583475E-5B00-4ED5-97D8-4EF389D3A3CEQ30473494-CE45AAE7-6525-4205-996D-D157F1E702F5Q30485607-90617D28-839B-40DE-B7DF-784E7F0B7F49Q30490937-BB40144E-ABC1-4FD7-846F-05C395E78D40Q30499664-35F1EB0B-B686-4FF3-A930-9FC91300DA86Q30501418-8562EF76-2BCC-41F5-97AA-A0FC33E0B733Q30502974-89713DC2-6E1B-4465-B9B9-F37C255DCF0BQ30543886-F24DDE97-5158-43CE-966F-7F23DDFBD074Q31066454-EF3730B7-7EFE-4BC8-B1AC-6BFD2CEBBA4BQ31114341-00E82BC4-7A0A-4AA5-AAA0-9538FA4F1DE9Q33244318-B54DBA1B-6F7D-4F50-A245-57BAF9D316CEQ33639128-41A63FB9-0C22-4E01-83A6-119A34F7B22FQ33695098-E0493CAB-39CC-4EE4-8BA8-93D41C353236Q33755837-BA8335E1-37E3-409E-8813-2FFD432CB93BQ33785922-AC73CE23-769F-4C86-AF38-6CF208E0EB84Q33832439-18D83AC3-0534-4ABE-99BA-8D9591E70C19Q33845029-D07CDEA1-A830-4632-A1E3-52ABD8C1A480Q33881296-7D01A48B-A2DC-4160-A150-8804755E8603Q33912298-137200BE-E933-438E-9522-291A028141EEQ33916421-28F5E030-3382-44CD-A824-ABD73C16FECEQ33965187-A00DDD38-C008-44D9-B724-054BD018EA8EQ34050202-061B5541-FA56-41FF-AD5E-E81D308B79E0Q34335628-C1109BBD-D43B-454E-B688-65BE94400A1CQ34489406-E475F191-63A5-4A49-83A3-7EFB11562D42Q34499693-18A2E7FB-0454-45D3-AA60-064B4E0762FF
P2860
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
description
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1998
@ast
im November 1998 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1998/11/01)
@sk
vědecký článek publikovaný v roce 1998
@cs
wetenschappelijk artikel (gepubliceerd op 1998/11/01)
@nl
наукова стаття, опублікована в листопаді 1998
@uk
name
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@ast
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@en
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@nl
type
label
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@ast
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@en
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@nl
prefLabel
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@ast
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@en
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@nl
P2093
P3181
P356
P1433
P1476
Mutations in a novel cochlear ...... ss with vestibular dysfunction
@en
P2093
A. J. Hudspeth
C. C. Morton
C. E. Seidman
F. H. Linthicum
J. B. Nadol
J. F. Lubianca Neto
J. G. Seidman
M. McKenna
N. G. Robertson
P2888
P304
P3181
P356
10.1038/3118
P407
P577
1998-11-01T00:00:00Z