Varaico: Literature-Extracted Genetic Variants

Gene:FOXE1
Variant:p.A65V
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FOXE1

NM_004473.4:p.A65V

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

Thyroid transcription factor FOXE1 interacts with ETS factor ELK1 to co-regulate TERT.

Bullock M et al.

Oncotarget, 2016

Somatic Mutations of FOXE1 in Papillary Thyroid Cancer.

Mond M et al.

Thyroid : Official Journal of the American Thyroid Association, 2015

Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.

Van Vliet G et al.

F1000prime Reports, 2015

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

Venza I et al.

Human Molecular Genetics, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

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

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

An outline of inherited disorders of the thyroid hormone generating system.

Knobel M et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

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

Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis.

Hishinuma A et al.

European Journal of Endocrinology, 2001

Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31.

Komatsu M et al.

The Journal of Pediatrics, 2001

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

De Baere E et al.

Human Molecular Genetics, 2001

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Bennett CL et al.

Nature Genetics, 2001

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

Clifton-Bligh RJ et al.

Nature Genetics, 1998

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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."