EYA1

An Error has occured retrieving Wikidata item for infobox EYA1‏ (EYA transcriptional coactivator and phosphatase 1) هوَ بروتين يُشَفر بواسطة جين EYA1 في الإنسان.^[1]^[1]^[2]

الوظيفة

الأهمية السريرية

المراجع

^ ^أ ^ب "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)". مؤرشف من الأصل في 2010-12-05.
^ Abdelhak S، Kalatzis V، Heilig R، Compain S، Samson D، Vincent C، Weil D، Cruaud C، Sahly I، Leibovici M، Bitner-Glindzicz M، Francis M، Lacombe D، Vigneron J، Charachon R، Boven K، Bedbeder P، Van Regemorter N، Weissenbach J، Petit C (مارس 1997). "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nat Genet. ج. 15 ع. 2: 157–64. DOI:10.1038/ng0297-157. PMID:9020840.

قراءة متعمقة

Stoppa-Lyonnet D، Carter PE، Meo T، Tosi M (1990). "Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements". Proc. Natl. Acad. Sci. U.S.A. ج. 87 ع. 4: 1551–5. Bibcode:1990PNAS...87.1551S. DOI:10.1073/pnas.87.4.1551. PMC:53513. PMID:2154751.
Vincent C، Kalatzis V، Abdelhak S، وآخرون (1998). "BOR and BO syndromes are allelic defects of EYA1". Eur. J. Hum. Genet. ج. 5 ع. 4: 242–6. PMID:9359046.
Abdelhak S، Kalatzis V، Heilig R، وآخرون (1998). "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1". Hum. Mol. Genet. ج. 6 ع. 13: 2247–55. DOI:10.1093/hmg/6.13.2247. PMID:9361030.
Pignoni F، Hu B، Zavitz KH، وآخرون (1998). "The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development". Cell. ج. 91 ع. 7: 881–91. DOI:10.1016/S0092-8674(00)80480-8. PMID:9428512.
Kumar S، Kimberling WJ، Weston MD، وآخرون (1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome". Hum. Mutat. ج. 11 ع. 6: 443–9. DOI:10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S. PMID:9603436.
Kalatzis V، Sahly I، El-Amraoui A، Petit C (1999). "Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome". Dev. Dyn. ج. 213 ع. 4: 486–99. DOI:10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L. PMC:305826. PMID:9853969.
Kumar S، Deffenbacher K، Cremers CW، وآخرون (1999). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing". Genet. Test. ج. 1 ع. 4: 243–51. DOI:10.1089/gte.1997.1.243. PMID:10464653.
Ohto H، Kamada S، Tago K، وآخرون (1999). "Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya". Mol. Cell. Biol. ج. 19 ع. 10: 6815–24. DOI:10.1128/mcb.19.10.6815. PMC:84678. PMID:10490620.
Azuma N، Hirakiyama A، Inoue T، وآخرون (2000). "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies". Hum. Mol. Genet. ج. 9 ع. 3: 363–6. DOI:10.1093/hmg/9.3.363. PMID:10655545.
Rickard S، Boxer M، Trompeter R، Bitner-Glindzicz M (2000). "Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes". J. Med. Genet. ج. 37 ع. 8: 623–7. DOI:10.1136/jmg.37.8.623. PMC:1734672. PMID:10991693.
Rickard S، Parker M، van't Hoff W، وآخرون (2001). "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". Hum. Genet. ج. 108 ع. 5: 398–403. DOI:10.1007/s004390100495. PMID:11409867.
Namba A، Abe S، Shinkawa H، وآخرون (2001). "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis". J. Hum. Genet. ج. 46 ع. 9: 518–21. DOI:10.1007/s100380170033. PMID:11558900.
Fukuda S، Kuroda T، Chida E، وآخرون (2002). "A family affected by branchio-oto syndrome with EYA1 mutations". Auris Nasus Larynx. 28 Suppl: S7–11. DOI:10.1016/s0385-8146(01)00082-7. PMID:11683347.
Buller C، Xu X، Marquis V، وآخرون (2002). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. ج. 10 ع. 24: 2775–81. DOI:10.1093/hmg/10.24.2775. PMID:11734542.
Ozaki H، Watanabe Y، Ikeda K، Kawakami K (2002). "Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins". J. Hum. Genet. ج. 47 ع. 3: 107–16. DOI:10.1007/s100380200011. PMID:11950062.
Xu PX، Zheng W، Laclef C، وآخرون (2002). "Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid". Development. ج. 129 ع. 13: 3033–44. PMID:12070080.
Vervoort VS، Smith RJ، O'Brien J، وآخرون (2003). "Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome". Eur. J. Hum. Genet. ج. 10 ع. 11: 757–66. DOI:10.1038/sj.ejhg.5200877. PMID:12404110.
Fougerousse F، Durand M، Lopez S، وآخرون (2003). "Six and Eya expression during human somitogenesis and MyoD gene family activation". J. Muscle Res. Cell. Motil. ج. 23 ع. 3: 255–64. DOI:10.1023/A:1020990825644. PMID:12500905.
Yashima T، Noguchi Y، Ishikawa K، وآخرون (2003). "Mutation of the EYA1 gene in patients with branchio-oto syndrome". Acta Otolaryngol. ج. 123 ع. 2: 279–82. DOI:10.1080/0036554021000028103. PMID:12701758.

هذه بذرة مقالة عن جين على كروموسوم 8 بحاجة للتوسيع. فضلًا شارك في تحريرها.

[entrez-1] أ ^ب "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)". مؤرشف من الأصل في 2010-12-05.

[pmid9020840-2] Abdelhak S، Kalatzis V، Heilig R، Compain S، Samson D، Vincent C، Weil D، Cruaud C، Sahly I، Leibovici M، Bitner-Glindzicz M، Francis M، Lacombe D، Vigneron J، Charachon R، Boven K، Bedbeder P، Van Regemorter N، Weissenbach J، Petit C (مارس 1997). "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nat Genet. ج. 15 ع. 2: 157–64. DOI:10.1038/ng0297-157. PMID:9020840.

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