Recombinant Human Forkhead box protein E1 (FOXE1)

1. We confirmed the association of FOXE1 gene and cleft lip with or without cleft palate by a family based study. For the first time, rs1867277 was significantly associated with cleft lip with or without cleft palate PMID: 29509083
2. Mutations of TTF2 is associated with risk of Papillary Thyroid Cancer in Chinese. Patients with Multiplendular goiter and no metastasis are more likely to suffer PTC. G/A mutation of TTF2 had a high correlation with PTC in the overall population. PMID: 26356687
3. Report that PTCSC2 binds myosin-9 (MYH9). In a bidirectional promoter shared by FOXE1 and PTCSC2, MYH9 inhibits the promoter activity in both directions. This inhibition can be reversed by PTCSC2, which acts as a suppressor. PMID: 28049826
4. replication confirmed at genome-wide significance the association of loci at FOXE1 with hypothyroidism, and PDE8B, CAPZB and PDE10A with serum TSH. A total of 12 SNPs seemed to explain nearly 7% of the serum TSH variation PMID: 28727628
5. The functional variants rs965513 and rs1867277 independently contribute to genetic predisposition to papillary thyroid carcinoma, while a contributing role of the FOXE1 poly-Ala polymorphism could not be confirmed. PMID: 27824288
6. FOXE1 interacts with ELK1 on thyroid relevant gene promoters, establishing a new regulatory pathway for its role in adult thyroid function. Co-regulation of TERT suggests a mechanism by which allelic variants in/near FOXE1 are associated with thyroid cancer risk. PMID: 27852061
7. In a Cuban population, differentiated thyroid cancer risk was positively and strongly associated with the number of copies in the minor allele (A) for SNP rs965513 near FOXE1 among people who consumed less iodine than the median. PMID: 27610545
8. methylation-mediated silencing of FOXE1 expression may contribute to the progression of CRC. PMID: 27271927
9. The rs965513 polymorphism is a risk factor for thyroid cancer.[meta-analysis] PMID: 27191655
10. Patient-related factors modify the predisposition to papillary thyroid carcinoma by increasing the risk for rs944289 (near the NKX2-1 locus) per year of age, and by enhancing the protective effect of the FOXE1 GGT haplotype in men. PMID: 28660995
11. We identified a FOXE1: c.532_537delGCCGCC p.(Ala178_Ala179del) variant that predisposes to thyroid ectopia. Taken together, this is the first report of mosaic 11p13 deletion in association with thyroid dysgenesis PMID: 28398607
12. Our results implicate FOXE1 as an important locus whose polymorphic variation increases risks for all types of isolated clefts, and opens a new biological pathway to investigate in efforts to understand genetic factors underlying human clefting. PMID: 27604706
13. FOXE1 polyalanine repeat polymorphisms are associated with thyroid cancer, but only for tumours larger than 1 cm, suggesting a role in disease progression. PMID: 27474100
14. In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance PMID: 28054174
15. FOXE1 was the only gene which was over-expressed in six out of eight lung cancer cell lines and human cancer tissue specimens and is an important regulator by targeting autophagy and Matrix Metalloproteinases pathways in lung cancer development. PMID: 27755953
16. Taken together, this study showed that rs7043516 may be considered as a potentially susceptible marker of cleft lip only among Chinese Han populations. PMID: 26728781
17. this study shows that FOXE1 polymorphism is strongly associated with non-syndromic cleft lip and palate in populations in northeast China PMID: 26100861
18. High Levels of mRNA of both FOXE1 are associated with benign than in malignant thyroid lesions. PMID: 26370671
19. Our findings suggest that FOXE1 variations generate a higher risk for poor histopathological features of papillary thyroid carcinoma PMID: 26722557
20. genetic susceptibility to thyroid cancer seems likely to be associated with the risk alleles at rs1867277, rs965513, rs1443434, and rs907580 PMID: 26206751
21. analysis of novel somatic mutations of FOXE1 in papillary thyroid cancer PMID: 25950909
22. Causal mutations for orofacial clefting and thyroid diseases occur within cis-regulatory elements at the human FOXE1 locus. PMID: 25652407
23. In pancreatic cancer cells, AF6 is expressed at reduced levels, causing Dvl2 to be upregulated and available to bind and enhance FOXE1-induced trans-activation of Snail, which promotes proliferation and metastasis. PMID: 26013125
24. FOXE1 germline rare variant is involved in familal non-medullary thyroid carcinoma. PMID: 25381600
25. our data suggest that SYNE1 and FOXE1 are promising markers for colorectal cancer detection. PMID: 25538088
26. Our data suggest a role for PTCSC2, FOXE1, and TSHR in the predisposition to papillary thyroid carcinoma. PMID: 25303483
27. Findings suggest that the SNPs in XKR4 and near FOXE1 are involved in the regulation of TSH levels. PMID: 24852370
28. study identifies probable susceptibility variants of FOXE1 for oral clefts in the Thai population PMID: 24252547
29. genetic association studies in population in Germany: Data suggest that an SNP in FOXE1 (rs965513) is associated with increased risk for differentiated thyroid cancer (of an aggressive nature) in the population studied. PMID: 24325646
30. FOXE1 and SYNE1 hypermethylation markers demonstrated significantly increased expression in neoplastic tissue. PMID: 24280874
31. Common variations of FOXE1 are a risk factor associated with increased thyroid cancer susceptibility. PMID: 24489898
32. The current meta-analysis provided evidence that FOXE1 genetic polymorphisms may contribute to increased papillary thyroid carcinoma risk..ATM genetic polymorphisms may not be important dominants of susceptibility to this neoplasm. PMID: 24756757
33. three common variations on FOXE1 is a risk factor associated with increased thyroid cancer susceptibility, but these associations vary in different ethnic populations PMID: 24744143
34. A tissue-dependent differentially methylated regions (DMR) in the FOXE1 promoter. This DMR contains two consecutive CpG dinucleotides, which are epigenetic modifiers of FOXE1 expression in nontumoral tissues. PMID: 24646064
35. These results strongly support the FOXE1 locus as a risk factor for nsOFC. With the data of the initial study, there is now considerable evidence that this locus is the first conclusive risk factor shared between nsCL/P and nsCPO. PMID: 24563486
36. Significant association with PTC was found for rs1801516 (D1853N) in ATM and rs1867277 in the promoter region of FOXE1 (OR = 1.55, 95% CI 1.03, 2.34). PMID: 24105688
37. single nucleotide polymorphisms at 9q22.33 near FOXE1 showed convincing evidence of association with nonmedullary thyroid carcinoma risk in high-risk families PMID: 24127282
38. Nuclear FOXE1 expression in tumor cells in vicinity of the PTC border is associated with presence of a risk allele of rs1867277 (c.-238G>A) in the 5' untranslated region of the FOXE1 gene, as well as with pathological characteristics of PTC. PMID: 23327367
39. the FOXE1 gene exhibits significant differential expression levels between PTC tissues and adjacent non-tumor thyroid tissues. PMID: 23715628
40. In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. PMID: 23512105
41. study showed evidence of association between forkhead box E1 (FOXE1) variants and thyroid cancer risk in the Portuguese population PMID: 22882326
42. coding polyalanine expansion in FOXE1 may be responsible for the observed association between FOXE1 and papillary thyroid cancer PMID: 22736773
43. FOXE1 genes suggest a role for orofacial clefting in hispanic polulation. PMID: 22753311
44. Novel associations for hypothyroidism and autoimmune risk loci include SNPs near the FOXE1 gene. PMID: 22493691
45. Polyalanine repeat expansions in FOXE1 is associated with the genetic aetiology of POF in Chinese women. PMID: 22177572
46. Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC. PMID: 21730105
47. these results excluded the association of poly (Ala) polymorphism with autoimmune thyroid diseases; however it confirms the involvement of FOXE1 in the genesis of thyroid carcinoma. PMID: 21896990
48. FOXE1-polyAla tract expansion may contribute to the molecular background of familial but not sporadic forms of thyroid hemiagenesis. PMID: 21311165
49. Polymorphisms in TIMP2 and WNT9B are novel loci predisposing to cleft palate. PMID: 21462296
50. Effects of genetic variation in FOXE1 on serum free thyroxine (FT4) levels in Caucasian populations are demonstrated, as well as borderline significant effects on serum thyroid hormone (TSH) levels. PMID: 21367965

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HGNC: 3806

OMIM: 241850

KEGG: hsa:2304

STRING: 9606.ENSP00000364265

UniGene: Hs.159234