EYA4

Eyes absent homolog 4 (Drosophila), also known as EYA4, is a human gene.cite web | title = Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2070| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and be important 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. Three transcript variants encoding distinct isoforms have been identified for this gene.cite web | title = Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2070| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=O'Neill ME, Marietta J, Nishimura D, "et al." |title=A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. |journal=Hum. Mol. Genet. |volume=5 |issue= 6 |pages= 853–6 |year= 1996 |pmid= 8776603 |doi=
*cite journal | author=Borsani G, DeGrandi A, Ballabio A, "et al." |title=EYA4, a novel vertebrate gene related to Drosophila eyes absent. |journal=Hum. Mol. Genet. |volume=8 |issue= 1 |pages= 11–23 |year= 1999 |pmid= 9887327 |doi=
*cite journal | author=Schönberger J, Levy H, Grünig E, "et al." |title=Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. |journal=Circulation |volume=101 |issue= 15 |pages= 1812–8 |year= 2000 |pmid= 10769282 |doi=
*cite journal | author=Wayne S, Robertson NG, DeClau F, "et al." |title=Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. |journal=Hum. Mol. Genet. |volume=10 |issue= 3 |pages= 195–200 |year= 2001 |pmid= 11159937 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Pfister M, Tóth T, Thiele H, "et al." |title=A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. |journal=Mol. Med. |volume=8 |issue= 10 |pages= 607–11 |year= 2004 |pmid= 12477971 |doi=
*cite journal | author=Mungall AJ, Palmer SA, Sims SK, "et al." |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Schönberger J, Wang L, Shin JT, "et al." |title=Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. |journal=Nat. Genet. |volume=37 |issue= 4 |pages= 418–22 |year= 2005 |pmid= 15735644 |doi= 10.1038/ng1527
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Beausoleil SA, Villén J, Gerber SA, "et al." |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240
*cite journal | author=Makishima T, Madeo AC, Brewer CC, "et al." |title=Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain. |journal=Am. J. Med. Genet. A |volume=143 |issue= 14 |pages= 1592–8 |year= 2007 |pmid= 17567890 |doi= 10.1002/ajmg.a.31793
*cite journal | author=Hildebrand MS, Coman D, Yang T, "et al." |title=A novel splice site mutation in EYA4 causes DFNA10 hearing loss. |journal=Am. J. Med. Genet. A |volume=143 |issue= 14 |pages= 1599–604 |year= 2007 |pmid= 17568404 |doi= 10.1002/ajmg.a.31860

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