EYA1 Antibody, FITC conjugated

1. SIX1/EYA1 mutations might be partially responsible for conotruncal heart defects. PMID: 29043394
2. These results identify the conserved arginine residues of EYA1 that play an important role for its activity, thus implicating arginine methylation as a novel regulatory mechanism of EYA function. PMID: 28213359
3. A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing PMID: 28583505
4. Results found that EYA1 affects FBW7-Myc binding to regulate the FBW7-mediated Myc degradation machinery in breast cancer cells. PMID: 27795300
5. miR-101 is downregulated in breast cancer, and can inhibit cell proliferation and promote apoptosis by targeting EYA1 through the Notch signaling pathway. PMID: 27082308
6. Association between EYA1 three SNPs and NSOCs and suggested that maternal environmental tobacco smoke, common cold history, and alcohol consumption. PMID: 25640282
7. Our findings implicate this EYA1 partial duplication segregating with branchiootic phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the Branchiootorenal syndrome/BO syndrom PMID: 25926005
8. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown.[review] PMID: 24730701
9. we proved that the branchiooto (BO) syndrome in these cases was caused by germinal mosaicism of the EYA1 gene in either the mother or father. PMID: 25780253
10. PI3K/Akt signaling enhances Eya1 transcription activity, which largely attributes to the phosphorylation-induced reduction of Eya1 SUMOylation. PMID: 24954506
11. Low EYA1 expression is associated with gastric carcinoma. PMID: 24729159
12. results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and nonsyndromic orofacial clefts. PMID: 23601008
13. The EYA1 phosphatase regulates cell-cycle control via transcriptional complex formation at the cyclin D1 promoter. PMID: 23636126
14. Novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population. PMID: 23840632
15. A novel EYA1 splice site mutation was found to be associated with Branchio-Oto-Renal Syndrome and focal glomerulosclerosis. PMID: 23506628
16. EYA1 is efficiently degraded during mitotic exit in a ANAPC1-dependent manner and these two proteins physically interact. PMID: 23263983
17. Two novel EYA1 mutations (c.466C>T and c.1735delG) were identified in two families with BOR syndrome. PMID: 22447252
18. A 23 year old woman with Branchio-oto-renal syndrome presented with a novel heterozygous mutation 1420-1421delCC in exon 14 of EYA-1 gene. PMID: 21955869
19. Study reports a screening of 140 patients from 124 families with Branchio-oto-renal and identified 36 EYA1 mutations in 42 unrelated patients, 2 mutations, and 1 change of unknown significance in SIX1 in 3 unrelated patients, but no mutation in SIX5. PMID: 21280147
20. This report describes the expanded phenotype of individuals, resulting from contiguous gene deletion involving the EYA1 gene and provides a molecular description of the genomic rearrangements involving this gene in branchio-oto-renal syndrome. PMID: 20979191
21. Data report the identification of the related proteins Sipl1 (Shank-interacting protein-like 1) and Rbck1 (RBCC protein interacting with PKC1) as novel interaction partners of Eya1. PMID: 20956555
22. Hypomethylation of EYA1 in microtia may be related to the pathogenesis of the disease. PMID: 20209935
23. Mutations in the EYA1 gene have been identified in both branchio-oto and branchio-oto-renal syndromes. PMID: 11683347
24. Defective protein-protein interactions of mutations in the EYA domain underlie brachio-oto-renal syndrome. PMID: 11950062
25. These results suggest that the S189G mutation is a candidate mutation for Branchio-Oto syndrome. PMID: 12701758
26. three Six1 mutations are crucial for Eya1-Six1 interaction, and the two mutations within the homeodomain region are essential for specific Six1-DNA binding PMID: 15141091
27. EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome. PMID: 15493068
28. Mutations in the EYA1 gene on the chromosome band 8q13.3, have been identified to be the underlying genetic defects. We found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474_1475insC; R492PfsX40) in the EYA1 gene. PMID: 16005355
29. Point mutations altering the EYA1 reading frame, can be found in patients with oto-facio-cervical syndrome. PMID: 16441263
30. A novel EYA1 mutation was identified in a newborn with laryngomalacia, glossoptosis, retrognathism, and funnel chest. PMID: 16691597
31. We report a second Korean family with branchio-oto-renal syndrome with a novel nonsense EYA1 mutation PMID: 17049623
32. Four EYA1 mutations provide a molecular diagnosis of branchio-oto-renal syndrome in five out of six Danish families. PMID: 17637804
33. results indicate that mutations in EYA1 and TCF2 rarely result in an isolated Congenital anomalies of the kidney and urinary tract (CAKUT) phenotype. PMID: 18065799
34. EYA1 mutations were found in 31% of families fitting established clinical criteria for branchio-oto-renal syndrome (BOR) and 7% of families with questionable BOR phenotype PMID: 18220287
35. A mutation suggests that certain transcripts of EYA1 escape nonsense-mediated decay and encode truncated EYA proteins that may be capable of dominant-negative interactions producing distinct phenotypic features within the BOR spectrum. PMID: 19206155
36. Familial transmission of Goldenhar syndrome is not due to mutations in EYA1. PMID: 19213029
37. A novel one-base-pair deletion in the EYA1 gene, resulting in a truncated protein (c.321delT; p.Ala107fs), was found in Korean males with Branchio-oto-renal syndrome. PMID: 19667416
38. miR-562 expression is reduced in Wilms' tumor and may contribute to tumorigenesis by deregulating target gene EYA1. PMID: 19789318

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HGNC: 3519

OMIM: 113650

KEGG: hsa:2138

STRING: 9606.ENSP00000342626

UniGene: Hs.444971