EYA1

Eyes absent homolog 1 (Drosophila), also known as EYA1, is a human gene.cite web | title = Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2138| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene.cite web | title = Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2138| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M |title=Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 4 |pages= 1551–5 |year= 1990 |pmid= 2154751 |doi=
*cite journal | author=Abdelhak S, Kalatzis V, Heilig R, "et al." |title=A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. |journal=Nat. Genet. |volume=15 |issue= 2 |pages= 157–64 |year= 1997 |pmid= 9020840 |doi= 10.1038/ng0297-157
*cite journal | author=Vincent C, Kalatzis V, Abdelhak S, "et al." |title=BOR and BO syndromes are allelic defects of EYA1. |journal=Eur. J. Hum. Genet. |volume=5 |issue= 4 |pages= 242–6 |year= 1998 |pmid= 9359046 |doi=
*cite journal | author=Abdelhak S, Kalatzis V, Heilig R, "et al." |title=Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. |journal=Hum. Mol. Genet. |volume=6 |issue= 13 |pages= 2247–55 |year= 1998 |pmid= 9361030 |doi=
*cite journal | author=Pignoni F, Hu B, Zavitz KH, "et al." |title=The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development. |journal=Cell |volume=91 |issue= 7 |pages= 881–91 |year= 1998 |pmid= 9428512 |doi=
*cite journal | author=Kumar S, Kimberling WJ, Weston MD, "et al." |title=Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. |journal=Hum. Mutat. |volume=11 |issue= 6 |pages= 443–9 |year= 1998 |pmid= 9603436 |doi= 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S |doilabel=10.1002/(SICI)1098-1004(1998)11:6443::AID-HUMU43.0.CO;2-S
*cite journal | author=Kalatzis V, Sahly I, El-Amraoui A, Petit C |title=Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome. |journal=Dev. Dyn. |volume=213 |issue= 4 |pages= 486–99 |year= 1999 |pmid= 9853969 |doi= 10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L |doilabel=10.1002/(SICI)1097-0177(199812)213:4486::AID-AJA133.0.CO;2-L
*cite journal | author=Kumar S, Deffenbacher K, Cremers CW, "et al." |title=Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. |journal=Genet. Test. |volume=1 |issue= 4 |pages= 243–51 |year= 1999 |pmid= 10464653 |doi=
*cite journal | author=Ohto H, Kamada S, Tago K, "et al." |title=Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya. |journal=Mol. Cell. Biol. |volume=19 |issue= 10 |pages= 6815–24 |year= 2000 |pmid= 10490620 |doi=
*cite journal | author=Azuma N, Hirakiyama A, Inoue T, "et al." |title=Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. |journal=Hum. Mol. Genet. |volume=9 |issue= 3 |pages= 363–6 |year= 2000 |pmid= 10655545 |doi=
*cite journal | author=Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M |title=Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. |journal=J. Med. Genet. |volume=37 |issue= 8 |pages= 623–7 |year= 2000 |pmid= 10991693 |doi=
*cite journal | author=Rickard S, Parker M, van't Hoff W, "et al." |title=Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. |journal=Hum. Genet. |volume=108 |issue= 5 |pages= 398–403 |year= 2001 |pmid= 11409867 |doi=
*cite journal | author=Namba A, Abe S, Shinkawa H, "et al." |title=Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. |journal=J. Hum. Genet. |volume=46 |issue= 9 |pages= 518–21 |year= 2001 |pmid= 11558900 |doi=
*cite journal | author=Fukuda S, Kuroda T, Chida E, "et al." |title=A family affected by branchio-oto syndrome with EYA1 mutations. |journal=Auris, nasus, larynx |volume=28 Suppl |issue= |pages= S7–11 |year= 2002 |pmid= 11683347 |doi=
*cite journal | author=Buller C, Xu X, Marquis V, "et al." |title=Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. |journal=Hum. Mol. Genet. |volume=10 |issue= 24 |pages= 2775–81 |year= 2002 |pmid= 11734542 |doi=
*cite journal | author=Ozaki H, Watanabe Y, Ikeda K, Kawakami K |title=Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. |journal=J. Hum. Genet. |volume=47 |issue= 3 |pages= 107–16 |year= 2002 |pmid= 11950062 |doi=
*cite journal | author=Xu PX, Zheng W, Laclef C, "et al." |title=Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. |journal=Development |volume=129 |issue= 13 |pages= 3033–44 |year= 2002 |pmid= 12070080 |doi=
*cite journal | author=Vervoort VS, Smith RJ, O'Brien J, "et al." |title=Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 11 |pages= 757–66 |year= 2003 |pmid= 12404110 |doi= 10.1038/sj.ejhg.5200877
*cite journal | author=Fougerousse F, Durand M, Lopez S, "et al." |title=Six and Eya expression during human somitogenesis and MyoD gene family activation. |journal=J. Muscle Res. Cell. Motil. |volume=23 |issue= 3 |pages= 255–64 |year= 2003 |pmid= 12500905 |doi=
*cite journal | author=Yashima T, Noguchi Y, Ishikawa K, "et al." |title=Mutation of the EYA1 gene in patients with branchio-oto syndrome. |journal=Acta Otolaryngol. |volume=123 |issue= 2 |pages= 279–82 |year= 2003 |pmid= 12701758 |doi=

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