Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
about
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeClass III POU genes: generation of homopolymeric amino acid repeats under GC pressure in mammalsA role for the POU-III transcription factor Brn-4 in the regulation of striatal neuron precursor differentiationThe 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt diseaseTargeted deletion of the mouse POU domain gene Brn-3a causes selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired sucklingLoss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2Nonsyndromic hearing impairment: unparalleled heterogeneityA gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24Genetics of Nonsyndromic Congenital Hearing LossDestabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutationCooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formationEssential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development.Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.POU domain transcription factor brain 4 confers pancreatic alpha-cell-specific expression of the proglucagon gene through interaction with a novel proximal promoter G1 elementFdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchymeFinding new genes for non-syndromic hearing loss through an in silico prioritization studyPolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencingA POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.Hearing loss: a common disorder caused by many rare alleles.Genetics of hearing loss: focus on DFNA2.Molecular and clinical studies of X-linked deafness among Pakistani families.Gene expression in cortical interneuron precursors is prescient of their mature function.At the speed of sound: gene discovery in the auditory systemThe new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Beginning of a molecular era in hearing and deafness.Characterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns.Alternative Polyadenylation Directs Tissue-Specific miRNA Targeting in Caenorhabditis elegans Somatic Tissues.GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.Whole-exome sequencing and its impact in hereditary hearing lossMutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.Molecular evolution of the homeodomain family of transcription factorsGene regulation in the magnocellular hypothalamo-neurohypophysial system.Auditory and vestibular mouse mutants: models for human deafness.Characterisation and genetic mapping of a new X linked deafness syndrome.Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing
P2860
Q24300737-B0B8C682-0EEA-4456-97AF-CFD2AC7C02E2Q24312400-057FA888-DD4C-46EE-9063-3D92B5B39F06Q24533540-F717B599-57AC-4F3C-9A36-898CD8250A06Q24540182-346E8ABA-3F2B-457E-9005-B9E9A3C1505CQ24602910-B94D7995-73DF-416B-A8E1-49ACFDD91D95Q24651113-D205CCF4-FED0-49C2-AB0B-8849F012392AQ24680416-0D7082AE-B271-41EF-9BEA-3985E93D0CDDQ24680575-63789592-20EA-4FA0-91B5-A07189920E9CQ26753842-1D1ADE8A-8FE1-4636-9DC2-0A8DDAAB0747Q28277345-0B3CAAEF-C325-4224-9859-9CDB395CB73EQ28506318-324C3BA5-E24D-464D-9F3C-891F77C326E1Q28508722-158DF4A7-FE51-4890-ADB3-AA1F65859EABQ28543664-EA63B225-D1E5-4405-8F78-369CDCF17CC6Q28577175-3E7A121C-89DA-4275-946A-A15DEECBC566Q28591745-AEA57C47-0FFB-4D09-A5C0-ED69BFBD8AA3Q28749118-0B35943F-A4E3-4793-80E9-CEB7FF03FDFDQ29618564-3D91C51E-9548-4B81-8194-751DF5338F50Q30363026-B76685CB-1D39-4FDF-8F2E-D96768748008Q30365781-0E5D5A46-5E5D-4C44-BC09-C63E91BF0618Q30397202-E5DCCE7A-1C9B-41F6-975A-13AA40D29A80Q30398827-683B95D4-D0A5-4A3E-9023-F5BCEE5F825AQ30412441-A09AF6B6-1071-4875-A8FC-0715DAEAADBBQ30433617-C729AD35-4EB8-4A77-903C-BCDFCCD98FBDQ30453298-9FE9AD39-EB4A-436B-B4DB-C7F82718FFECQ30453431-4175BF12-45DC-4098-97C5-F9E89B7CDBFFQ30471802-2DA1F659-8434-4BF4-9E53-D4883EDDB69DQ30486244-AD2CF2C3-41D4-412D-8149-5BC1C4122C4CQ30502974-F5556FF5-0777-45EB-8DC7-9FF14970E329Q30530871-FD4EA9BB-32FA-4AB3-8CB2-E91609195839Q33639128-252B25A2-623C-46EF-A1E3-60E53D98A442Q33786756-5F2C6250-55D9-48F9-A8FD-F32D4ED459F1Q33877485-9267AC81-DAD5-4E96-BB9C-44617A4904BCQ33886237-2AC245D1-9B72-4F32-9F8F-33280B68B5C7Q33889479-0282EE1E-15C1-4CBC-B29D-F72CAF3475C2Q33912298-A5D5A19C-63D1-4D5F-9477-47A18EA7FC57Q33941060-E6FCB3B5-A77F-4395-ADB4-993561DE3465Q33953261-A77A2708-6740-4E2E-9550-9E166204B981Q34065954-0527C775-425F-4639-96E9-964363687BA0Q34080221-9FBC30E4-4687-49E5-9DB4-A76D15B7F454Q34127314-6AC14181-C182-4398-8F8B-884CD82B0090
P2860
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
description
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Science
@fr
artículu científicu espublizáu en 1995
@ast
im Februar 1995 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1995/02/03)
@sk
vědecký článek publikovaný v roce 1995
@cs
wetenschappelijk artikel (gepubliceerd op 1995/02/03)
@nl
наукова стаття, опублікована в лютому 1995
@uk
name
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@ast
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@en
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@nl
type
label
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@ast
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@en
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@nl
prefLabel
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@ast
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@en
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@nl
P2093
P2860
P356
P1433
P1476
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
@en
P2093
F P Cremers
H H Ropers
M Bitner-Glindzicz
M E Pembrey
S M van der Maarel
Y J de Kok
P2860
P304
P356
10.1126/SCIENCE.7839145
P407
P577
1995-02-01T00:00:00Z