EYA1
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.
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معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): NM_001370336  
| ع ن جينات الكروموسوم 8 | ع ن جينات الكروموسوم 8 |
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جينات الكروموسوم 8:  CNOT7  DEFA5  MRPL15  TTC35  RB1CC1  TCIM  MTMR9  PLEKHF2  MTUS1  TTI2  GTF2E2  Neurocalcin  CSMD1  ZHX1  MTSS1  STAU2  TONSL  DEFA6  DDEF1  STMN2  ZHX2  LACTB2  TPD52  FBXO32  INTS9  DEFB103A  HOOK3  ZNF7  RALYL  PLAG1  SNTG1  DEPTOR  RAB11FIP1  EXTL3  AZIN1  LY6E  KCNU1  RAD21  TRMT12  PMP2  FGF20  RRS1  SGCZ  KIAA1967  ERLIN2  NEFM  RSPO2  EEF1D  EPB49  ODF1  KHDRBS3  MRPS28  C8orf58  BAG4  BOP1  ZNF707  TCEA1  POLR2K  HEY1  RAD54B  CHMP4C  YTHDF3  PREX2  E2F5  EXT1  SNTB1  CHRNA6  TMEM66  RNF139  Syndecan-2  GPIHBP1  KLF10  KCTD9  ARHGEF10  PSD3  PUF60  DCC1  VCPIP1  PHYHIP  Syntenin-1  EGR3  TOX  TUSC3  VPS28  ATP6V0D2  PKIA  LSM1  GSDMC  GRINA  SOX7  RGS20  ZNF16  TRIM55  RP1  MAF1  PNMA2  SLURP1  ELP3  SH2D4A  SORBS3  TRAPPC9  TMEM67  PURG  RAB2A  DEFA1  PDLIM2  ARFGEF1  VPS37A  OXR1  CDH17  RNF122  FGF17  CYC1  HMBOX1  RBPMS  GPAA1  TP53INP1  RHOBTB2  GDAP1  EYA1  LZTS1  PAG1  SNHG6  OTUD6B  GDF6  DEFA1B  SOX17  TAF2  LOC642658  FGL1  EIF3H  EIF3S6  FOXH1  JPH1  INTS8  CPSF1  FABP9  ANGPT2  DLGAP2  UBE2V2  DOK2  PRSS55  DEFA3  Matrilin-2  Dock5  EIF2C2  Derlin-1  MAK16  BNIP3L 
بوابة طب
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
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التصنيفات الطبية:  دليل الوراثة المندلية عند البشر (OMIM): 601653  
المعرفات الخارجية:  Ensembl Transcript ID: ENST00000645793  نظام اللغة الطبية الموحدة (UMLS CUI): C1414490