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EYA4 encodes a member of the eyes absent (EYA) family of proteins. Additionally we are shipping EYA4 Antibodies (57) and EYA4 Proteins (4) and many more products for this protein.
results implicate Eya4/Six1 (show SIX1 ELISA Kits) regulates normal cardiac function via p27 (show CDKN1B ELISA Kits)/casein kinase-2alpha/histone deacetylase 2 (show HDAC2 ELISA Kits) and indicate that mutations within this transcriptional complex and signaling cascade lead to the development of cardiomyopathy.
constructs of the homologous region ( Eya1HR and Eya4HR) interact with Six1 (show SIX1 ELISA Kits) prey constructs, although no interaction with Dach1 (show DACH1 ELISA Kits) prey was demonstrable
Eya4(-/-) mice developed otitis media with effusion; anatomic studies revealed abnormal middle ear cavity and eustachian tube dysmorphology.
that Eyes absent 4 (EYA4), originally identified as a co-transcription factor, stimulates the expression of IFN-beta (show IFNB1 ELISA Kits) and CXCL10 (show CXCL10 ELISA Kits) in response to the undigested DNA of apoptotic cells
results implicate Eya4/Six1 (show SIX1 ELISA Kits) regulates normal cardiac function via p27 (show PAK2 ELISA Kits)/casein kinase-2alpha/histone deacetylase 2 (show HDAC2 ELISA Kits) and indicate that mutations within this transcriptional complex and signaling cascade lead to the development of cardiomyopathy.
In a Dutch family with c.464del EYA4 mutation, hearing impairment begins as a mid-frequency hearing impairment in childhood and develops into a high-frequency, moderate hearing impairment later in life.
Genetic variations in the EYA4, GRHL2 and DFNA5 genes and their interactions with occupational noise exposure may play an important role in the incidence of noise-induced hearing loss (NIHL).
analysis of an EYA4 mutation causing hearing loss in a Chinese DFNA family
A novel missense mutation c.1643C>G (p.T548R) in EYA4 may cause autosomal dominant non-syndromic hearing impairment.
EYA4 mutations are associated with autosomal dominant non-syndromic hearing loss.
Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss
EYA4 methylation may be identified in stool samples.
Results provide molecular and clinical information in order to gain improved understanding of the pathogenesis of DFNA10 protein EYA4 mutations and the genotypephenotype correlations of DFNA10 hearing loss.
Autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation:a novel heterozygous frame-shift mutation (c.579_580insTACC, p.(Asp194Tyrfs*52)) in EYA4 was identified that truncates the so-called variable region of the protein.
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.
eyes absent homolog 4
, dJ78N10.1 (eyes absent)
, eyes absent 4