FOXE1

Summary

Gene Symbol: FOXE1
Description: forkhead box E1
Alias: FKHL15, FOXE2, HFKH4, HFKL5, NMTC4, TITF2, TTF-2, TTF2, forkhead box protein E1, HNF-3/fork head-like protein 5, forkhead box protein E2, forkhead, drosophila, homolog-like 15, forkhead-related protein FKHL15, thyroid transcription factor 2
Species: human
Products:     FOXE1

Top Publications

  1. Hishinuma A, Ohyama Y, Kuribayashi T, Nagakubo N, Namatame T, Shibayama K, et al. Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis. Eur J Endocrinol. 2001;145:385-9 pubmed
    ..We performed genetic analysis of the TITF2 gene (encoding TTF-2) in patients with thyroid dysgenesis...
  2. Clifton Bligh R, Wentworth J, Heinz P, Crisp M, John R, Lazarus J, et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet. 1998;19:399-401 pubmed
    ..Here we report that the transcription factor FKHL15 (ref...
  3. Castanet M, Park S, Smith A, Bost M, Leger J, Lyonnet S, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet. 2002;11:2051-9 pubmed
    ..Here, we describe the second homozygous missense mutation in TTF-2 (or FOXE1), a transcription factor that has been implicated in thyroid development...
  4. Watkins W, Harris S, Craven M, Vincent A, Winship I, Gersak K, et al. An investigation into FOXE1 polyalanine tract length in premature ovarian failure. Mol Hum Reprod. 2006;12:145-9 pubmed
    ..We investigated variation in FOXE1 polyalanine tract length, following the observation that polyalanine tract deletions are seen in the closely ..
  5. Gudmundsson J, Sulem P, Gudbjartsson D, Jonasson J, Sigurdsson A, Bergthorsson J, et al. Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nat Genet. 2009;41:460-4 pubmed publisher
    ..7 x 10(-27)) and rs944289 on 14q13.3 (OR = 1.37; P = 2.0 x 10(-9)). The gene nearest to the 9q22.33 locus is FOXE1 (TTF2) and NKX2-1 (TTF1) is among the genes located at the 14q13.3 locus...
  6. Medici M, van der Deure W, Verbiest M, Vermeulen S, Hansen P, Kiemeney L, et al. A large-scale association analysis of 68 thyroid hormone pathway genes with serum TSH and FT4 levels. Eur J Endocrinol. 2011;164:781-8 pubmed publisher
    ..For FT(4), two DIO1 (P=8×10(-12)) and one FOXE1 (P=0.0003) polymorphisms remained significant in the meta-analysis...
  7. Kallel R, Belguith Maalej S, Akdi A, Mnif M, Charfeddine I, Galofré P, et al. Genetic investigation of FOXE1 polyalanine tract in thyroid diseases: new insight on the role of FOXE1 in thyroid carcinoma. Cancer Biomark. 2010;8:43-51 pubmed publisher
    b>FOXE1 polyalanine tract (poly-Ala) has been associated with thyroid dysgenesis. Recently, the SNP (rs1867277:-238G>A) within the FOXE1 5'UTR was involved in the genetic susceptibility to thyroid cancer (TC)...
  8. Bullock M, Duncan E, O Neill C, Tacon L, Sywak M, Sidhu S, et al. Association of FOXE1 polyalanine repeat region with papillary thyroid cancer. J Clin Endocrinol Metab. 2012;97:E1814-9 pubmed publisher
    ..The thyroid transcription factor forkhead factor E1 (FOXE1) contains a polymorphic polyalanine tract with 12-22 alanines...
  9. Tomaz R, Sousa I, Silva J, Santos C, Teixeira M, Leite V, et al. FOXE1 polymorphisms are associated with familial and sporadic nonmedullary thyroid cancer susceptibility. Clin Endocrinol (Oxf). 2012;77:926-33 pubmed publisher
    b>FOXE1 is a transcription factor required for thyroid differentiation and function. FOXE1 locus polymorphisms (chromosome 9q22.33) were recently associated with increased sporadic thyroid cancer risk...

More Information

Publications124 found, 100 shown here

  1. Köhler A, Chen B, Gemignani F, Elisei R, Romei C, Figlioli G, et al. Genome-wide association study on differentiated thyroid cancer. J Clin Endocrinol Metab. 2013;98:E1674-81 pubmed publisher
    ..33 (FOXE1), and 14q13.2 (NKX2-1). However, most of the inherited genetic risk factors of DTC remain to be discovered...
  2. Chadwick B, Obermayr F, Frischauf A. FKHL15, a new human member of the forkhead gene family located on chromosome 9q22. Genomics. 1997;41:390-6 pubmed
    b>FKHL15 was isolated from a cDNA library enriched for transcripts from 9q22. Isolation and sequencing of a 3...
  3. Macchia P, Mattei M, Lapi P, Fenzi G, Di Lauro R. Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). Biochimie. 1999;81:433-40 pubmed
    The human gene encoding the thyroid transcription factor 2 (TTF-2) was cloned and mapped to human chromosome 9q22...
  4. Santarpia L, Valenzise M, Di Pasquale G, Arrigo T, San Martino G, Cicciò M, et al. TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. J Endocrinol Invest. 2007;30:13-9 pubmed
    Thyroid transcription factor-2 (TTF-2/FOXE1) is a polyalanine domain protein that regulates thyroid embryogenesis, but very few patients with permanent primary congenital hypothyroidism (pCH) harbor germline mutations of this or other ..
  5. Carre A, Castanet M, Sura Trueba S, Szinnai G, Van Vliet G, Trochet D, et al. Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Hum Genet. 2007;122:467-76 pubmed
    ..hypothyroidism from thyroid dysgenesis (TD) (OMIM 218700) occur with a frequency 15-fold higher than by chance, FOXE1 is one of the candidate genes for this genetic predisposition and contains an alanine tract...
  6. Takahashi M, Saenko V, Rogounovitch T, Kawaguchi T, Drozd V, Takigawa Imamura H, et al. The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. Hum Mol Genet. 2010;19:2516-23 pubmed publisher
    ..8 x 10(-12), OR = 1.65, 95% CI: 1.43-1.91). Rs965513 is located 57-kb upstream to FOXE1, a thyroid-specific transcription factor with pivotal roles in thyroid morphogenesis and was recently reported as ..
  7. Szczepanek E, Ruchala M, Szaflarski W, Budny B, Kilinska L, Jaroniec M, et al. FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid. Horm Res Paediatr. 2011;75:329-34 pubmed publisher
    Recent studies have pointed to the correlation between FOXE1 polyalanine tract (FOXE1-polyAla) length polymorphism and genetic susceptibility to thyroid dysgenesis causing congenital hypothyroidism...
  8. Matsuse M, Takahashi M, Mitsutake N, Nishihara E, Hirokawa M, Kawaguchi T, et al. The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population. J Med Genet. 2011;48:645-8 pubmed publisher
    b>FOXE1 and NKX2-1 are two known genetic risk factors for the predisposition to sporadic papillary thyroid carcinoma (PTC) in Europeans, but their association in other ethnicities is still unknown...
  9. Denny J, Crawford D, Ritchie M, Bielinski S, Basford M, Bradford Y, et al. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet. 2011;89:529-42 pubmed publisher
    ..Four single-nucleotide polymorphisms (SNPs) in linkage disequilibrium at 9q22 near FOXE1 were associated with hypothyroidism at genome-wide significance, the strongest being rs7850258 (odds ratio [OR] 0...
  10. Schröder H, Mekić A, Hupatz H, Sobottka S, Witte F, Urner L, et al. Switchable synchronisation of pirouetting motions in a redox-active [3]rotaxane. Nanoscale. 2018;10:21425-21433 pubmed publisher
    ..The controlled coupling of pirouetting motions in rotaxanes can lead to novel molecular gearing systems which transmit rotational motion by switchable non-covalent interactions. ..
  11. Long W, Lu G, Zhou W, Yang Y, Zhang B, Zhou H, et al. Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. Endocr J. 2018;65:1019-1028 pubmed publisher
    ..09% of patients (69/106) on the following nine genes: DUOX2, TG, TPO, TSHR, TTF1, TTF2, NKX2-5, PAX8 and GNAS. 69...
  12. Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, et al. Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. J Clin Endocrinol Metab. 2010;95:4031-6 pubmed publisher
    Homozygous loss-of-function mutations in forkhead box E1/thyroid transcription factor 2 (FOXE1/TTF-2) cause syndromic congenital hypothyroidism, with thyroid dysgenesis, cleft palate, spiky hair, and variable choanal atresia and bifid ..
  13. Jagomagi T, Nikopensius T, Krjutskov K, Tammekivi V, Viltrop T, Saag M, et al. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. Eur J Oral Sci. 2010;118:213-20 pubmed publisher
    ..This study provides further evidence implicating MSX1 and MTHFR in the etiology of nonsyndromic CL/P across different populations...
  14. Bychkov A, Saenko V, Nakashima M, Mitsutake N, Rogounovitch T, Nikitski A, et al. Patterns of FOXE1 expression in papillary thyroid carcinoma by immunohistochemistry. Thyroid. 2013;23:817-28 pubmed publisher
    b>FOXE1, a thyroid-specific transcription factor also known as TTF-2, was recently identified as a major genetic risk factor for papillary thyroid carcinoma (PTC). Its role in thyroid carcinogenesis, however, remains unknown...
  15. Xu Y, Chang R, Peng Z, Wang Y, Ji W, Guo J, et al. Loss of polarity protein AF6 promotes pancreatic cancer metastasis by inducing Snail expression. Nat Commun. 2015;6:7184 pubmed publisher
    ..Furthermore, AF6 deficiency in PC cells leads to increased formation of a Dishevelled 2 (Dvl2)-FOXE1 complex on the promoter region of Snail gene, and activation of Snail expression...
  16. Chen Y, Zhang Y. Exploration of the association between FOXE1 gene polymorphism and differentiated thyroid cancer: a meta-analysis. BMC Med Genet. 2018;19:83 pubmed publisher
    ..215)) was more than that of East Asians of 1.35 (OR = 0.897(0.680, 1.193)). This meta-analysis revealed that common variations of FOXE1 (rs965513, rs944289 and rs1867277) were risk factors associated with increased DTC susceptibility.
  17. Pereira J, da Silva J, Tomaz R, Pinto A, Bugalho M, Leite V, et al. Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC). Endocrine. 2015;49:204-14 pubmed publisher
    ..The transcription factors NKX2-1, FOXE1, PAX8, and HHEX are involved in the morphogenesis and differentiation of the thyroid...
  18. Melotte V, Yi J, Lentjes M, Smits K, Van Neste L, Niessen H, et al. Spectrin repeat containing nuclear envelope 1 and forkhead box protein E1 are promising markers for the detection of colorectal cancer in blood. Cancer Prev Res (Phila). 2015;8:157-64 pubmed publisher
    ..Here, we examined the utility of NDRG4, GATA5, and two additional markers [Forkhead box protein E1 (FOXE1) and spectrin repeat containing nuclear envelope 1 (SYNE1)] promoter methylation as biomarkers in ..
  19. Hata T, Dal Molin M, Hong S, Tamura K, Suenaga M, Yu J, et al. Predicting the Grade of Dysplasia of Pancreatic Cystic Neoplasms Using Cyst Fluid DNA Methylation Markers. Clin Cancer Res. 2017;23:3935-3944 pubmed publisher
    ..aspirated after surgical resection were analyzed for methylated DNA at selected genes (SOX17, BNIP3, FOXE1, PTCHD2, SLIT2, EYA4, and SFRP1) using methylation-specific droplet-digital PCR (dd-QMSP)...
  20. Qin C, Yao J, Zhu W, Wu W, Xie J. FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure. Reprod Biol Endocrinol. 2011;9:158 pubmed publisher
    b>FOXE1 is one of the candidate genes for genetic predisposition to premature ovarian failure (POF) and it contains an alanine tract...
  21. Sonpavde G, Bhor M, Hennessy D, Bhowmik D, Shen L, Nicacio L, et al. Sequencing of Cabazitaxel and Abiraterone Acetate After Docetaxel in Metastatic Castration-Resistant Prostate Cancer: Treatment Patterns and Clinical Outcomes in Multicenter Community-Based US Oncology Practices. Clin Genitourin Cancer. 2015;13:309-318 pubmed publisher
    ..of second-line therapy after administration of D (TTF1) and to the end of combined second- and third-line therapy (TTF2) for 3-drug sequences...
  22. Heinemann V, Vehling Kaiser U, Waldschmidt D, Kettner E, Marten A, Winkelmann C, et al. Gemcitabine plus erlotinib followed by capecitabine versus capecitabine plus erlotinib followed by gemcitabine in advanced pancreatic cancer: final results of a randomised phase 3 trial of the 'Arbeitsgemeinschaft Internistische Onkologie' (AIO-PK010. Gut. 2013;62:751-9 pubmed publisher
    ..The primary study endpoint was time to treatment failure (TTF) after 1st- and 2nd-line therapy (TTF2; non-inferiority design)...
  23. Endo T, Kobayashi T. Concurrent overexpression of RET/PTC1 and TTF1 confers tumorigenicity to thyrocytes. Endocr Relat Cancer. 2013;20:767-76 pubmed publisher
    ..mRNA than did FRTL (pcDNA) cells, but these two cell types did not differ significantly with respect to Pax8 or Ttf2 mRNA levels...
  24. Montesinos M, Nicola J, Nazar M, Peyret V, Lucero A, Pellizas C, et al. Nitric oxide-repressed Forkhead factor FoxE1 expression is involved in the inhibition of TSH-induced thyroid peroxidase levels. Mol Cell Endocrinol. 2016;420:105-15 pubmed publisher
    ..Moreover, we characterized the FoxE1 binding site Z as mediator of the NO-inhibited TPO expression...
  25. Bonora E, Rizzato C, Diquigiovanni C, Oudot Mellakh T, Campa D, Vargiolu M, et al. The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma. Int J Cancer. 2014;134:2098-107 pubmed publisher
    ..SNPs at 9q22.33 near FOXE1 showed convincing evidence of association with NMTC risk in these high-risk families...
  26. Giuliani C, Iezzi M, Ciolli L, Hysi A, Bucci I, Di Santo S, et al. Resveratrol has anti-thyroid effects both in vitro and in vivo. Food Chem Toxicol. 2017;107:237-247 pubmed publisher
    ..genes in the FRTL-5 rat thyroid cell line: thyroglobulin, thyroid peroxidase, TSH receptor, Nkx2-1, Foxe1 and Pax8. We observed decreased expression of these genes in FRTL-5 cells treated with 10 ?M resveratrol...
  27. Deshpande V, Luebeck J, Nguyen N, Bakhtiari M, Turner K, Schwab R, et al. Exploring the landscape of focal amplifications in cancer using AmpliconArchitect. Nat Commun. 2019;10:392 pubmed publisher
    ..integrated with metaphase fluorescence in situ hybridization (FISH) and PacBio sequencing on the cell-line UPCI:SCC090 confirm the extrachromosomal origin and fine structure of a Forkhead box E1 (FOXE1)-containing hybrid amplicon.
  28. Oglio R, Salvarredi L, Rossich L, Copelli S, Pisarev M, Juvenal G, et al. Participation of NADPH 4 oxidase in thyroid regulation. Mol Cell Endocrinol. 2019;480:65-73 pubmed publisher
    ..Differentiated rat thyroid cells (FRTL-5) were incubated in the presence or absence of TSH/insulin and TTF2, PAX8, TPO, NIS, NOX4, TGFβ1, FOXO1/3 mRNA levels were examined by Real Time PCR...
  29. Maillard S, Damiola F, Clero E, Pertesi M, Robinot N, Rachédi F, et al. Common variants at 9q22.33, 14q13.3, and ATM loci, and risk of differentiated thyroid cancer in the French Polynesian population. PLoS ONE. 2015;10:e0123700 pubmed publisher
    ..For the GWAS SNP rs965513 near FOXE1, an association was found between genotypes G/A and A/A, and risk of DTC...
  30. Fan X, Fu C, Shen Y, Li C, Luo S, Li Q, et al. Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. Clin Chim Acta. 2017;468:76-80 pubmed publisher
    ..1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China...
  31. Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab. 2010;95:1981-5 pubmed publisher
    ..to define the prevalence of CH due to mutations of PAX8, NKX2-1 [encoding thyroid transcription factor (TTF)-1], FOXE1 (encoding TTF-2), and NKX2-5 among patients with permanent primary CH and in the general population in Japan...
  32. Nikopensius T, Kempa I, Ambrozaityte L, Jagomagi T, Saag M, Matuleviciene A, et al. Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol. 2011;91:218-25 pubmed publisher
    ..56 × 10(-4) ), WNT9B rs4968282 (p = 0.0013), and FOXE1 rs7860144 (p = 0.0021) were associated with a decreased risk of CL/P...
  33. Nikitski A, Saenko V, Shimamura M, Nakashima M, Matsuse M, Suzuki K, et al. Targeted Foxe1 Overexpression in Mouse Thyroid Causes the Development of Multinodular Goiter But Does Not Promote Carcinogenesis. Endocrinology. 2016;157:2182-95 pubmed publisher
    ..association studies have identified several single nucleotide polymorphisms in the forkhead box E1 gene (FOXE1) locus, which are strongly associated with the risk for thyroid cancer...
  34. Suzuki A, Abdallah N, Gajera M, Jun G, Jia P, Zhao Z, et al. Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018;150:21-27 pubmed publisher
    ..Human genotype-phenotype analysis revealed that variants in five human homologous CP genes (IRF6, FOXE1, VAX1, WNT9B, and GAD1) significantly contributed to the human CP phenotype...
  35. Nimmagadda S, Buchtová M, Fu K, Geetha Loganathan P, Hosseini Farahabadi S, Trachtenberg A, et al. Identification and functional analysis of novel facial patterning genes in the duplicated beak chicken embryo. Dev Biol. 2015;407:275-88 pubmed publisher
    ..Expression of TP63, TBX22, BMP4 and FOXE1, all human clefting genes, were upregulated...
  36. Carlson J, Standley J, Petrin A, Shaffer J, Butali A, Buxó C, et al. Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes. Genet Epidemiol. 2017;41:887-897 pubmed publisher
    ..evidence of gene-gene interactions between this modifier locus and two recognized CL/P risk loci: 8q21 and 9q22 (FOXE1) (P = 0.012 and 0.023, respectively)...
  37. Jang S, Yu X, Odorico S, Clark M, Jaskula Sztul R, Schienebeck C, et al. Novel analogs targeting histone deacetylase suppress aggressive thyroid cancer cell growth and induce re-differentiation. Cancer Gene Ther. 2015;22:410-6 pubmed publisher
    ..increased expression levels of sodium iodide symporter, paired box gene 8, thyroid transcription factor 1 (TTF1), TTF2 and thyroid-stimulating hormone receptors...
  38. Sigurdson A, Brenner A, Roach J, Goudeva L, Müller J, Nerlich K, et al. Selected single-nucleotide polymorphisms in FOXE1, SERPINA5, FTO, EVPL, TICAM1 and SCARB1 are associated with papillary and follicular thyroid cancer risk: replication study in a German population. Carcinogenesis. 2016;37:677-684 pubmed publisher
    ..17525 tag SNPs in 1129 candidate genes, we found associations with PTC risk in SERPINA5, FTO, HEMGN (near FOXE1) and other genes...
  39. Kariyawasam D, Rachdi L, Carré A, Martin M, Houlier M, Janel N, et al. DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome. Endocrinology. 2015;156:1171-80 pubmed publisher
    ..The expression of transcription factors Nkx2-1, Pax8, and Foxe1 involved in thyroidogenesis were studied by quantitative RT-PCR at the same embryonic stages...
  40. Pereda C, Lesueur F, Pertesi M, Robinot N, Lence Anta J, Turcios S, et al. Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population. BMC Genet. 2015;16:22 pubmed publisher
    ..3 near NK2 homeobox 1 (NKX2-1), on chromosome 9q22.33 near Forkhead factor E1 (FOXE1) and within the DNA repair gene Ataxia-Telangiectasia Mutated (ATM) in 203 cases and 212 age- and sex- matched ..
  41. Malinowski J, Denny J, Bielinski S, Basford M, Bradford Y, Peissig P, et al. Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. PLoS ONE. 2014;9:e111301 pubmed publisher
    ..Genome-wide association studies (GWAS) have identified variants in PDE8B and FOXE1 that are associated with TSH levels...
  42. Tryndyak V, de Conti A, Doerge D, Olson G, Beland F, Pogribny I. Furan-induced transcriptomic and gene-specific DNA methylation changes in the livers of Fischer 344 rats in a 2-year carcinogenicity study. Arch Toxicol. 2017;91:1233-1243 pubmed publisher
    ..Forty-eight percent of these genes (20 genes, including Areg, Jag1, and Foxe1) that exhibited the most significant methylation and gene expression changes were involved in key pathways ..
  43. Zhang D, Qu L, Ma L, Zhou Y, Wang G, Zhao X, et al. Genome-wide identification of transcription factors that are critical to non-small cell lung cancer. Cancer Lett. 2018;434:132-143 pubmed publisher
    ..CHD4, KANK2, NR3C2, PTEN, PRDM16, RB1, and STK11) and 10 potential oncogenic TFs (BARX1, DLX6, ELF3, EN1, ETV1, FOXE1, HOXB7, IRX4, IRX5, and SALL1)...
  44. Romanelli M, Tatò L, Lorenzi P, Morandi C. Nuclear localization domains in human thyroid transcription factor 2. Biochim Biophys Acta. 2003;1643:55-64 pubmed
    Thyroid transcription factor-2 (TTF2) is a nuclear protein involved in morphogenesis and gene expression in thyroid gland, belonging to the family of the forkhead/winged-helix transcription factors...
  45. Papadia C, Louwagie J, Del Rio P, Grooteclaes M, Coruzzi A, Montana C, et al. FOXE1 and SYNE1 genes hypermethylation panel as promising biomarker in colitis-associated colorectal neoplasia. Inflamm Bowel Dis. 2014;20:271-7 pubmed publisher
    ..Methylation markers may be able to do this. SYNE1, FOXE1, NDRG4, and PHACTR3 genes were screened using methylation-specific PCR that permit the methylation status of the ..
  46. He H, Li W, Liyanarachchi S, Srinivas M, Wang Y, Akagi K, et al. Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer. Proc Natl Acad Sci U S A. 2015;112:6128-33 pubmed publisher
    ..Previously, we noted that the expression of two genes in the region, forkhead box E1 (FOXE1) and PTC susceptibility candidate 2 (PTCSC2), is regulated by rs965513 in unaffected thyroid tissue, but the ..
  47. Weeks A, Wilson S, Ward L, Goldblatt J, Hui J, Walsh J. HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer. BMC Med Genet. 2016;17:60 pubmed publisher
    ..were examined for mutations in HABP2 and the thyroid cancer susceptibility genes SRGAP1, NKX2-1, SRRM2 and FOXE1. The population prevalence of the G534E variant in HABP2 was examined in two independent cohorts...
  48. Venza M, Visalli M, Venza I, Torino C, Tripodo B, Melita R, et al. Altered binding of MYF-5 to FOXE1 promoter in non-syndromic and CHARGE-associated cleft palate. J Oral Pathol Med. 2009;38:18-23 pubmed publisher
    Three different homozygous loss-of-function mutations of the Forkhead box E1 (FOXE1) gene have been associated with syndromic cleft palate...
  49. Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, et al. Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism. BMC Endocr Disord. 2014;14:69 pubmed publisher
    ..Loss of function mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes are responsible for some forms of inherited congenital hypothyroidism, with or without hypoplastic thyroid...
  50. Sun F, Zhang J, Yang C, Gao G, Zhu W, Han B, et al. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. Eur J Endocrinol. 2018;178:623-633 pubmed publisher
    ..Notably, eight mutations in four genes (FOXE1, NKX2-1, PAX8 and HHEX) that lead to thyroid dysgenesis were identified in eight probands...
  51. Vieira A, Avila J, Daack Hirsch S, Dragan E, Felix T, Rahimov F, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 2005;1:e64 pubmed
    ..Sequence analysis alone suggests that point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated cleft lip with or ..
  52. Venza I, Visalli M, Tripodo B, Lentini M, Teti D, Venza M. Investigation into FOXE1 genetic variations in cutaneous squamous cell carcinoma. Br J Dermatol. 2010;162:681-3 pubmed publisher
    b>FOXE1 is a candidate tumour suppressor gene at human chromosome locus 9q22. This is a region frequently lost in squamous cell cancer...
  53. Rogounovitch T, Bychkov A, Takahashi M, Mitsutake N, Nakashima M, Nikitski A, et al. The common genetic variant rs944289 on chromosome 14q13.3 associates with risk of both malignant and benign thyroid tumors in the Japanese population. Thyroid. 2015;25:333-40 pubmed publisher
    ..In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.33, FOXE1), rs944289 (14q13.3, PTCSC3), rs2439302 (8p12, NRG1), rs1867277 (9q22...
  54. Park E, Gong E, Romanelli M, Lee K. Suppression of estrogen receptor-alpha transactivation by thyroid transcription factor-2 in breast cancer cells. Biochem Biophys Res Commun. 2012;421:532-7 pubmed publisher
    ..Taken together, these data suggest that TTF-2 may modulate the function of ER? as a corepressor and play a role in ER-dependent proliferation of mammary cells. ..
  55. Kang I, Musa M, Harun F, Junit S. Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. Biochem Genet. 2010;48:141-51 pubmed publisher
    The FOXE1 gene was screened for mutations in a cohort of 34 unrelated patients with congenital hypothyroidism, 14 of whom had thyroid dysgenesis and 18 were normal (the thyroid status for 2 patients was unknown)...
  56. Somuncu E, Karatas A, Ferahman S, Saygılı N, Yilmaz E, Ozturk O, et al. The investigation of foxe1 variations in papillary thyroid carcinoma. Int J Clin Exp Pathol. 2015;8:13458-64 pubmed
    ..The aim of our study was to determine a possible relationship between Forkhead box E1 (FOXE1) gene variants and histopathological features of papillary thyroid carcinoma...
  57. Wallace B, Berman Z, Mueller G, Lin Y, Chang T, Andres S, et al. APE2 Zf-GRF facilitates 3'-5' resection of DNA damage following oxidative stress. Proc Natl Acad Sci U S A. 2017;114:304-309 pubmed publisher
    ..TOP3α) and NEIL3 (Nei-like DNA glycosylase 3), as well as transcription and RNA regulatory proteins, such as TTF2 (transcription termination factor 2), TFIIS, and RPB9...
  58. Bamforth J, Hughes I, Lazarus J, Weaver C, Harper P. Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet. 1989;26:49-51 pubmed
    ..Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome. ..
  59. Hirtz C, Vialaret J, Nouadje G, Schraen S, Benlian P, Mary S, et al. Development of new quantitative mass spectrometry and semi-automatic isofocusing methods for the determination of Apolipoprotein E typing. Clin Chim Acta. 2016;454:33-8 pubmed publisher
    ..Then, incubation of the gel with HRP secondary antibody followed by TTF1/TTF2 substrate allowed the visualization of ApoE bands. The results of the two techniques were compared to genotyping...
  60. Sugimachi K, Matsumura T, Shimamura T, Hirata H, Uchi R, Ueda M, et al. Aberrant Methylation of FOXE1 Contributes to a Poor Prognosis for Patients with Colorectal Cancer. Ann Surg Oncol. 2016;23:3948-3955 pubmed
    ..In the study, FOXE1 was newly identified as a gene associated with prognosis and metastasis in CRC...
  61. Moreno L, Mansilla M, Bullard S, Cooper M, Busch T, Machida J, et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet. 2009;18:4879-96 pubmed publisher
    ..45E - 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN...
  62. Yamamoto K, Kanematsu Y, Nagashima U, Ueda A, Mori H, Tachikawa M. Theoretical study of the H/D isotope effect on phase transition of hydrogen-bonded organic conductor ?-H3(Cat-EDT-TTF)2. Phys Chem Chem Phys. 2016;18:29673-29680 pubmed
    ..We concluded that the ?-stacking and the nuclear quantum effect were the key factors for the appearance of phase transition only in D-TTF. ..
  63. Wiese S, Emmerich D, Schroder B, Murphy D, Grzeschik K, van Kessel A, et al. The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern. DNA Cell Biol. 1997;16:165-71 pubmed
    ..6-kb HFKL5 cDNA. The transcript of HFKL5 is 4...
  64. Wu Y, Beland F, Fang J. Effect of triclosan, triclocarban, 2,2',4,4'-tetrabromodiphenyl ether, and bisphenol A on the iodide uptake, thyroid peroxidase activity, and expression of genes involved in thyroid hormone synthesis. Toxicol In Vitro. 2016;32:310-9 pubmed publisher
    ..of three genes involved in TH synthesis, Slc5a5, Tpo, and Tgo, and three thyroid transcription factor genes, Pax8, Foxe1, and Nkx2-1, was examined using quantitative real-time PCR...
  65. Wang F, Liu C, Jia X, Liu X, Xu Y, Yan S, et al. Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. Clin Chim Acta. 2017;470:36-41 pubmed publisher
    The abnormal expression of certain transcription factors (NKX2.1, FOXE1, NKX2.5, and PAX8) and thyroid stimulating hormone receptor (TSHR) genes has been associated with athyreosis, which is a form of thyroid dysgenesis (TD)...
  66. Mond M, Bullock M, Yao Y, Clifton Bligh R, Gilfillan C, Fuller P. Somatic Mutations of FOXE1 in Papillary Thyroid Cancer. Thyroid. 2015;25:904-10 pubmed publisher
    ..an association of single nucleotide polymorphisms close to the thyroid transcription factor forkhead box E1 (FOXE1) gene with thyroid cancer...
  67. Raimundo J, Alvelos M, Azevedo T, Martins T, Rodrigues F, Lemos M. Association of FOXE1 polyalanine repeat region with thyroid cancer is dependent on tumour size. Clin Endocrinol (Oxf). 2017;86:243-246 pubmed publisher
    Polymorphisms in the thyroid transcription factor forkhead factor E1 (FOXE1) gene have been implicated in the genetic susceptibility to differentiated thyroid cancer, but little is known about their effect on tumour characteristics...
  68. Gao Y, Chen F, Niu S, Lin S, Li S. Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer. Medicine (Baltimore). 2015;94:e1246 pubmed publisher
    ..Thyroid transcription factor 1 (TTF1) and 2 (TTF2) were thyroid-specific transcription factors, and regulated expression of the thyroid-specific genes...
  69. Trueba S, Auge J, Mattei G, Etchevers H, Martinovic J, Czernichow P, et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab. 2005;90:455-62 pubmed
    ..Mutations in PAX8, TITF1, or FOXE1 may account for congenital hypothyroidism in patients with either isolated TD or TD with associated malformations ..
  70. Saruwatari K, Umemura S, Nomura S, Kirita K, Matsumoto S, Yoh K, et al. Prognostic Factor Analysis in Patients With Small-Cell Lung Cancer Treated With Third-Line Chemotherapy. Clin Lung Cancer. 2016;17:581-587 pubmed publisher
    ..Median time to treatment failure after second-line chemotherapy (TTF2) was 4.5 months (TTF2 ? 5/< 5 months, 82/120). The median overall survival after third-line chemotherapy was 5...
  71. Peiling Yang S, Ngeow J. Familial non-medullary thyroid cancer: unraveling the genetic maze. Endocr Relat Cancer. 2016;23:R577-R595 pubmed
    ..To date, 4 susceptibility genes have been identified (SRGAP1 gene (12q14), TITF-1/NKX2.1 gene (14q13), FOXE1 gene (9q22.33) and HABP2 gene (10q25...
  72. Sequeira M, Al Khafaji F, Park S, Lewis M, Wheeler M, Chatterjee V, et al. Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis. Thyroid. 2003;13:927-32 pubmed
    Germline mutations in thyroid transcription factor 2 (TTF2) cause thyroid agenesis, spiky hair, and cleft palate, indicating thyroidal and extrathyroidal expression...
  73. Baris I, Arisoy A, Smith A, Agostini M, Mitchell C, Park S, et al. A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. J Clin Endocrinol Metab. 2006;91:4183-7 pubmed
    ..Hitherto, two mutations in the human thyroid transcription factor 2 (TTF-2) gene have been described in unrelated cases of CH with cleft palate, spiky hair, variable ..
  74. Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M. MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1. Hum Mol Genet. 2011;20:1016-25 pubmed publisher
    b>FOXE1 mutations cause the Bamforth-Lazarus syndrome characterized by thyroid and craniofacial defects. Although a pioneer activity of FOXE1 in thyroid development has been reported, FOXE1 regulation in other contexts remains unexplored...
  75. Fan Y, Ding Z, Yang Z, Deng X, Kang J, Wu B, et al. Expression and clinical significance of FOXE1 in papillary thyroid carcinoma. Mol Med Rep. 2013;8:123-7 pubmed publisher
    ..blot analysis were used to detect the mRNA and protein expression levels, respectively, of forkhead box E1 (FOXE1) in 30 PTC tissue specimens matched with adjacent non-tumor thyroid tissues...
  76. Carre A, Hamza R, Kariyawasam D, Guillot L, Teissier R, Tron E, et al. A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression. Thyroid. 2014;24:649-54 pubmed publisher
    Homozygous loss-of-function mutations in the FOXE1 gene have been reported in several patients with partial or complete Bamforth-Lazarus syndrome: congenital hypothyroidism (CH) with thyroid dysgenesis (usually athyreosis), cleft palate, ..
  77. Penna Martinez M, Epp F, Kahles H, Ramos Lopez E, Hinsch N, Hansmann M, et al. FOXE1 association with differentiated thyroid cancer and its progression. Thyroid. 2014;24:845-51 pubmed publisher
    Single nucleotide polymorphisms (SNPs) near thyroid transcription factor genes (FOXE1 rs965513/NKX2-1 rs944289) have been shown to be associated with differentiated thyroid cancer (DTC) in Caucasoid populations...
  78. Nudel R, Simpson N, Baird G, O HARE A, Conti Ramsden G, Bolton P, et al. Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Genes Brain Behav. 2014;13:418-29 pubmed publisher
    ..In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders. ..
  79. Zhan M, Chen G, Pan C, Gu Z, Zhao S, Liu W, et al. Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations. Hum Mol Genet. 2014;23:5505-17 pubmed publisher
    ..1 (rs2622590, Pcombined = 2.21 × 10(-10)), and we confirmed two previously reported TSH susceptibility loci near FOXE1 at 9q22.33 and near CAPZB at 1p36.13, respectively...
  80. Yin X, Zhang H, Zhu Z, Wang H, Du Y, Li S, et al. FOXE1 polymorphisms and non-syndromic orofacial cleft susceptibility in a Chinese Han population. Oral Dis. 2016;22:274-9 pubmed publisher
    b>FOXE1 plays an important role in craniofacial development. The aim of this study was to investigate associations between genetic variants of FOXE1 and risk of non-syndromic orofacial clefts in a Chinese population...
  81. Leslie E, Carlson J, Shaffer J, Butali A, Buxó C, Castilla E, et al. Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. Hum Genet. 2017;136:275-286 pubmed publisher
    ..1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × 10-9)...
  82. Huynh M, Boudry Labis E, Duban B, Andrieux J, Tran C, Tampere H, et al. WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. Am J Med Genet A. 2017;173:1690-1693 pubmed publisher
    ..We identified a FOXE1: c.532_537delGCCGCC p.(Ala178_Ala179del) variant that predisposes to thyroid ectopia...
  83. Wang J, Waltner Law M, Yamada K, Osawa H, Stifani S, Granner D. Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta. J Biol Chem. 2000;275:18418-23 pubmed
    ..These results lead us to suggest that TLE proteins could influence the expression of mammalian genes regulated by HNF3. ..
  84. Sequeira M, Morgan J, Fuhrer D, Wheeler M, Jasani B, Ludgate M. Thyroid transcription factor-2 gene expression in benign and malignant thyroid lesions. Thyroid. 2001;11:995-1001 pubmed
    ..Compared with normal thyroids, transcripts were more abundant in 24% of thyroid lesions tested by ISH. In conclusion, we report for the first time on TTF-2 gene expression in normal and diseased adult human thyroids. ..
  85. Castanet M, Polak M. Spectrum of Human Foxe1/TTF2 Mutations. Horm Res Paediatr. 2010;73:423-9 pubmed publisher
    b>FOXE1 (or TTF-2) has been recognized as one of the thyroid dysgenesis (TD)-related genes based on its early expression at the thyroid bud stage and on the finding in Foxe1 knock-out mice of a sublingual or absent thyroid gland...
  86. Damiola F, Byrnes G, Moissonnier M, Pertesi M, Deltour I, Fillon A, et al. Contribution of ATM and FOXE1 (TTF2) to risk of papillary thyroid carcinoma in Belarusian children exposed to radiation. Int J Cancer. 2014;134:1659-68 pubmed publisher
    ..34, 95% confidence interval (CI) 0.16, 0.73) and rs1867277 in the promoter region of FOXE1 (OR = 1.55, 95% CI 1.03, 2.34)...
  87. Zhu H, Xi Q, Liu L, Wang J, Gu M. Quantitative assessment of common genetic variants on FOXE1 and differentiated thyroid cancer risk. PLoS ONE. 2014;9:e87332 pubmed publisher
    Forkhead box E1 encodes the transcription factor FOXE1 (or TTF-2), which together with Homeobox protein NKX2-1, PAX8 and HHEX, are pivotal proteins required for thyroid gland formation, differentiation and function...
  88. Abu Khudir R, Magne F, Chanoine J, Deal C, Van Vliet G, Deladoey J. Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glands. J Clin Endocrinol Metab. 2014;99:E1120-9 pubmed publisher
    ..In addition, the methylation profile of the human FOXE1, PAX8, and NKX2.1 promoter was examined using bisulfite sequencing...
  89. Liu K, Lu Y, Ai L, Jiao B, Yu J, Zhang B, et al. Association between FOXE1 and non-syndromic orofacial clefts in a northeastern Chinese population. Br J Oral Maxillofac Surg. 2015;53:705-10 pubmed publisher
    ..Non-syndromic orofacial clefts are among the most common congenital defects, and several reports have shown that the FOXE1 gene has strong associations with them...
  90. Batista F, Ward L, Marcello M, Martins M, Peres K, Torricelli C, et al. Gene expression of thyroid-specific transcription factors may help diagnose thyroid lesions but are not determinants of tumor progression. J Endocrinol Invest. 2016;39:423-9 pubmed publisher
    ..We quantified TTF-1, FOXE1 and PAX8 mRNA levels, relating their expression to diagnostic and prognostic features of thyroid tumors...
  91. Lammer E, Mohammed N, Iovannisci D, Ma C, Lidral A, Shaw G. Genetic variation of FOXE1 and risk for orofacial clefts in a California population. Am J Med Genet A. 2016;170:2770-2776 pubmed publisher
    We investigated whether orofacial clefts are associated with polymorphic variation within and around FOXE1. This California population-based case control study focused on white Hispanic and white nonHispanic infants among which there ..
  92. Wang Y, He H, Li W, Phay J, Shen R, Yu L, et al. MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus. Proc Natl Acad Sci U S A. 2017;114:474-479 pubmed publisher
    ..The locus also comprises the forkhead box E1 (FOXE1) gene, which is implicated in thyroid development, and a long noncoding RNA (lncRNA) gene, papillary thyroid ..