Homeobox protein Nkx-2.1
The NKX2-1 gene encodes a thyroid specific transcription factor. Mutations cause the following autosomal dominant conditions: non-medullary thyroid cancer, hypothyroidism, choreoathetosis, and neonatal respiratory distress.
Genetests:
Related Diseases:
References:
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Garcia-Barcelo M et al. (2005) TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.
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Taniguchi H et al. (2013) The spatial and temporal origin of chandelier cells in mouse neocortex.
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Winslow MM et al. (2011) Suppression of lung adenocarcinoma progression by Nkx2-1.
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4. |
Weir BA et al. (2007) Characterizing the cancer genome in lung adenocarcinoma.
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5. |
Holland PW et al. (2007) Classification and nomenclature of all human homeobox genes.
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6. |
Garcia-Barceló MM et al. (2007) Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus.
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7. |
Dentice M et al. (2005) Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.
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8. |
Seidman JG et al. (2002) Transcription factor haploinsufficiency: when half a loaf is not enough.
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9. |
Hamdan H et al. (1998) Structure of the human Nkx2.1 gene.
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Kimura S et al. (1996) The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary.
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11. |
Ikeda K et al. (1995) Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells.
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12. |
Acebrón A et al. (1995) Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.
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13. |
Guazzi S et al. (1990) Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity.
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14. |
Thorwarth A et al. (2014) Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
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15. |
Zhu NL et al. (2004) NKX2.1 regulates transcription of the gene for human bone morphogenetic protein-4 in lung epithelial cells.
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16. |
Trueba SS et al. (2005) PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.
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17. |
Breedveld GJ et al. (2002) Mutations in TITF-1 are associated with benign hereditary chorea.
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Kleiner-Fisman G et al. (2003) Benign hereditary chorea: clinical, genetic, and pathological findings.
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Devriendt K et al. (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.
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20. |
Iwatani N et al. (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.
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Pohlenz J et al. (2002) Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
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22. |
Krude H et al. (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
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23. |
Doyle DA et al. (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
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24. |
Asmus F et al. (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
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Carré A et al. (2009) Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
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Ngan ES et al. (2009) A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.
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NCBI article
NCBI 7080
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OMIM.ORG article
Omim 600635
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Orphanet article
Orphanet ID 156077
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30. |
Wikipedia article
Wikipedia EN (NK2_homeobox_1)
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Update: Aug. 14, 2020