Forkhead box protein E1

Definition:

Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.

References:

[1]. Isabella Venza, et al. MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1. Hum Mol Genet. 2011 Mar 1;20(5):1016-25. [Content Brief]

[2]. Aurore Carré, et al. A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression. Thyroid. 2014 Apr;24(4):649-54. [Content Brief]

[3]. R J Clifton-Bligh, et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet. 1998 Aug;19(4):399-401. [Content Brief]

[4]. Joana S Pereira, et al. Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC). Endocrine. 2015 May;49(1):204-14. [Content Brief]

[5]. I Baris, et al. A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. J Clin Endocrinol Metab. 2006 Oct;91(10):4183-7. [Content Brief]

[6]. Mireille Castanet, 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 Aug 15;11(17):2051-9. [Content Brief]

[7]. Mireille Castanet, et al. Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. J Clin Endocrinol Metab. 2010 Aug;95(8):4031-6. [Content Brief]

[8]. In-Nee Kang, et al. Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. Biochem Genet. 2010 Feb;48(1-2):141-51. [Content Brief]

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