Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

scientific journal article

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/10.3.195
P8608Fatcat IDrelease_ru4a3u7jfbahzfkb5n5u34kw5i
P3181OpenCitations bibliographic resource ID2890384
P698PubMed publication ID11159937
P5875ResearchGate publication ID12169681

P50authorGuy Van CampQ37645858
P2093author name stringR J Smith
C C Morton
S Prasad
N G Robertson
S Wayne
N Chen
A F Ryan
K Verhoeven
F DeClau
L Tranebjärg
P433issue3
P921main subjectdeafnessQ12133
P1104number of pages6
P304page(s)195-200
P577publication date2001-02-01
P1433published inHuman Molecular GeneticsQ2720965
P1476titleMutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
P478volume10

Reverse relations

cites work (P2860)
Q24676401A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10
Q30371643A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records
Q55481612A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
Q28115636A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
Q41742284A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10
Q37183412A molecular analysis of neurogenic placode and cranial sensory ganglion development in the shark, Scyliorhinus canicula.
Q24670142A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss
Q34366946A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
Q35663740A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
Q41158700A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing
Q92049097Analysis of EYA3 Phosphorylation by Src Kinase Identifies Residues Involved in Cell Proliferation
Q36088920Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study
Q30502974At the speed of sound: gene discovery in the auditory system
Q38084832Atypical protein phosphatases: emerging players in cellular signaling
Q36404119Can you hear me now? A genetic model of otitis media with effusion
Q34699453Continuing to break the sound barrier: genes in hearing
Q30310130Determination of the embryonic inner ear.
Q36449110Development and evolution of the vestibular sensory apparatus of the mammalian ear.
Q42073167Developmental expression patterns of candidate cofactors for vertebrate six family transcription factors
Q55052710Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders.
Q38056038EYA1-SIX1 complex in neurosensory cell fate induction in the mammalian inner ear
Q53224484EYA4 Acts as a New Tumor Suppressor Gene in Colorectal Cancer.
Q38768208Epigenetic Silencing of Eyes Absent 4 Gene by Acute Myeloid Leukemia 1-Eight-twenty-one Oncoprotein Contributes to Leukemogenesis in t(8;21) Acute Myeloid Leukemia
Q38191727Establishing the pre-placodal region and breaking it into placodes with distinct identities
Q35027888Etiology of syndromic and nonsyndromic sensorineural hearing loss
Q35187716Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss
Q34471407Evolution of electrosensory ampullary organs: conservation of Eya4 expression during lateral line development in jawed vertebrates.
Q30411232Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss
Q28585081Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear
Q41485484Eya1-Six1 interaction is sufficient to induce hair cell fate in the cochlea by activating Atoh1 expression in cooperation with Sox2.
Q35243673Eya2 is required to mediate the pro-metastatic functions of Six1 via the induction of TGF-β signaling, epithelial-mesenchymal transition, and cancer stem cell properties
Q88660937Eya3 promotes breast tumor-associated immune suppression via threonine phosphatase-mediated PD-L1 upregulation
Q28585781Eya4-deficient mice are a model for heritable otitis media
Q28593158Eyes absent represents a class of protein tyrosine phosphatases
Q34648361Eyes absent tyrosine phosphatase activity is not required for Drosophila development or survival
Q92405522Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
Q28749118Finding new genes for non-syndromic hearing loss through an in silico prioritization study
Q38393019Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness
Q40587352Genetic variation in EYA4 on the risk of noise-induced hearing loss in Chinese steelworks firm sample
Q26753842Genetics of Nonsyndromic Congenital Hearing Loss
Q36367641Genetics of deafness: recent advances and clinical implications
Q43074046High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
Q36983039Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss
Q35202865How clinicians add to knowledge of development
Q38011246Human HAD phosphatases: structure, mechanism, and roles in health and disease
Q35550640Human Nonsyndromic Sensorineural Deafness
Q33346003Human hereditary hearing impairment: mouse models can help to solve the puzzle
Q34426824Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss
Q50352502Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing
Q34573486Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics
Q36469493Induction and specification of cranial placodes
Q91817291Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
Q37783809Making senses development of vertebrate cranial placodes
Q35607378Molecular conservation and novelties in vertebrate ear development
Q24537783Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein
Q34398395Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
Q38384722New treatment options for hearing loss.
Q60307553Non-Syndromic Hearing Loss and High-Throughput Strategies to Decipher Its Genetic Heterogeneity
Q34747004Non-syndromic autosomal-dominant deafness
Q64052291Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Q89926715Prevalence and clinical features of hearing loss caused by EYA4 variants
Q38824822Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness
Q24292967SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
Q90589960Self-reported hearing loss questions provide a good measure for genetic studies: a polygenic risk score analysis from UK Biobank
Q58722472Sensorineural hearing loss and mild cardiac phenotype caused by an mutation
Q38169872Setting appropriate boundaries: fate, patterning and competence at the neural plate border.
Q92535164Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis
Q28507467Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development
Q89734622Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
Q27676610Structure-function analyses of the human SIX1–EYA2 complex reveal insights into metastasis and BOR syndrome
Q36392283Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families
Q28482486The EYA tyrosine phosphatase activity is pro-angiogenic and is inhibited by benzbromarone
Q38027074The EYA-SO/SIX complex in development and disease
Q36597900The Eyes Absent proteins in development and disease
Q38025839The peripheral sensory nervous system in the vertebrate head: a gene regulatory perspective
Q37341015The six family of homeobox genes in development and cancer
Q45168505The zebrafish dog-eared mutation disrupts eya1, a gene required for cell survival and differentiation in the inner ear and lateral line
Q28081644Transcriptional regulation of cranial sensory placode development
Q37170113USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.
Q37812277Unraveling the genetics of otitis media: from mouse to human and back again
Q34575519Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent
Q38115171What have we learned from murine models of otitis media?
Q48179924Xeya3 regulates survival and proliferation of neural progenitor cells within the anterior neural plate of Xenopus embryos
Q50447379[A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter].
Q33649267microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation