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Eyes absent homolog 4

EYA4, DFNA10, eyes absent 4, CMD1J
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Defects in this gene are also associated with dilated cardiomyopathy 1J. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, AGE, ACID, BOP
Papers on EYA4
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
Kunst et al., Nijmegen, Netherlands. In Ear Hear, Jan 2016
OBJECTIVES: Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy.
Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss.
Mingroni-Netto et al., São Paulo, Brazil. In Clin Genet, Nov 2015
Rare copy number variants (CNVs) were detected in 12 probands; four of the detected CNVs comprised genes previously associated with hearing loss (POU4F3, EYA4, USH2A, BCAP31) and were considered causative, stressing the contribution of genomic imbalance to non-syndromic deafness.
A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.
Yao et al., Wuhan, China. In J Hum Genet, Jun 2015
To date, only three genes are reported to be associated with MFSNHL, including TECTA, EYA4 and COL11A2.
Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.
Choi et al., Seoul, South Korea. In Eur Arch Otorhinolaryngol, Jun 2015
After basic filtering of the variants, we identified one proband who carried a novel truncation mutation, c.1194delT (p.Met401TrpfsX3) of EYA4, making the frequency of DFNA10 to be 7.14 % (1/14) in Koreans.
Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.
Rendtorff et al., Uppsala, Sweden. In Gene, Jun 2015
The results imply that unidentified factors, genetic or environmental, other than the EYA4 mutation, are of importance for the age at onset of DFNA10, and that mutation early in the variable region of the EYA4 protein can occur in the absence of dilated cardiomyopathy.
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.
Kim et al., Taegu, South Korea. In Plos One, 2014
Since EYA4 and GRHL2 were identified as the transcription factors for the DFNA10 and DFNA28, 8 EYA4 mutations and 2 GRHL2 mutations have been reported worldwide.
Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study.
Zhu et al., Hangzhou, China. In Environ Health, 2014
The purpose of this study was to examine the associations between genetic variations in the EYA4, GRHL2 and DFNA5 genes and the risk to noise-induced hearing loss (NIHL) in a Chinese population.
A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.
Dai et al., Shijiazhuang, China. In J Transl Med, 2014
Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus.
Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.
Ma et al., Shanghai, China. In Plos One, 2014
Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Choi et al., Seoul, South Korea. In Korean J Audiol, 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
Genomic and molecular aberrations in malignant peripheral nerve sheath tumor and their roles in personalized target therapy.
Du et al., Tianjin, China. In Surg Oncol, 2013
The genomic and molecular aberrations of EGFR, IGF1R, SOX9, EYA4, TOP2A, ETV4, and BIRC5 exhibit great promise as personalized therapeutic targets for MPNST patients.
Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis.
Ratner et al., Cincinnati, United States. In Oncogene, 2010
Findings identify a role of EYA4 and possibly interacting SIX and DACH proteins in MPNSTs and suggest the EYA4 pathway as a rational therapeutic target.
Regulation of the innate immune response by threonine-phosphatase of Eyes absent.
Nagata et al., Kyoto, Japan. In Nature, 2009
that Eyes absent 4 (EYA4), originally identified as a co-transcription factor, stimulates the expression of IFN-beta and CXCL10 in response to the undigested DNA of apoptotic cells
Relationship between the expression of hTERT and EYA4 mRNA in peripheral blood mononuclear cells with the progressive stages of carcinogenesis of the esophagus.
Li et al., Jinan, China. In J Exp Clin Cancer Res, 2008
EYA4 and hTERT mRNA expression increased with the severity of esophageal pathological changes and may be useful for identifying high-risk endoscopy candidates or for monitoring changes in premalignant esophageal lesions.
Eya4-deficient mice are a model for heritable otitis media.
Seidman et al., Boston, United States. In J Clin Invest, 2008
Eya4(-/-) mice developed otitis media with effusion; anatomic studies revealed abnormal middle ear cavity and eustachian tube dysmorphology.
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
Dahl et al., Iowa City, United States. In Am J Med Genet A, 2007
Study is the first report of a point mutation in EYA4 that is hypothesized to lead to aberrant pre-mRNA splicing and human disease.
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.
Seidman et al., Boston, United States. In Nat Genet, 2005
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Smith et al., Iowa City, United States. In Arch Otolaryngol Head Neck Surg, 1998
DESIGN: In 2 large families with autosomal dominant HHI, genes for NSHL were mapped to chromosomes 6 (DFNA10) and 19 (DFNA4).
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