Varaico: Literature-Extracted Genetic Variants

Gene:FOXE1
Variant:p.S57N
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FOXE1

NM_004473.4:p.S57N

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.

Wang F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

Mendieta-Zerón H et al.

Case Reports in Genetics, 2017

Somatic Mutations of FOXE1 in Papillary Thyroid Cancer.

Mond M et al.

Thyroid : Official Journal of the American Thyroid Association, 2015

MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.

Venza I et al.

Human Molecular Genetics, 2011

Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.

Kang IN et al.

Biochemical Genetics, 2010

Spectrum of Human Foxe1/TTF2 Mutations.

Castanet M et al.

Hormone Research in Paediatrics, 2010

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Moreno LM et al.

Human Molecular Genetics, 2009

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

Baris I et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate.

Venza M et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2006

Gene symbol: FOXE1. Disease: Nonsyndromic cleft palate. Accession #Hm0535.

Teti D et al.

Human Genetics, 2006

Genetics of congenital hypothyroidism.

Park SM et al.

Journal of Medical Genetics, 2005

Thyroid development and its disorders: genetics and molecular mechanisms.

De Felice M et al.

Endocrine Reviews, 2004

Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate.

Tonacchera M et al.

Thyroid : Official Journal of the American Thyroid Association, 2004

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Castanet M et al.

Human Molecular Genetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."