| 1 | NKX2-1, TGDRD
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| NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
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| Monti S, Nicoletti A, Cantasano A, Krude H, Cassio A.
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| Ital J Pediatr 41:45. doi: 10.1186/s13052-015-0150-6.
2015
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| 2 | NKX2-1, TGDRD
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| A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
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| Veneziano L, Parkinson MH, Mantuano E, Frontali M, Bhatia KP, Giunti P.
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| Cerebellum 13(5):588-95. doi: 10.1007/s12311-014-0570-7. Review.
2014
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| 3 | BHC, NKX2-1
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| Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
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| Peall KJ, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, Lewis H, Hedderly T, Meyer E, Robb SA, Lynch B, King MD, Lin JP, Morris HR, Jungbluth H, Kurian MA.
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| Dev Med Child Neurol 56(7):642-8. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31.
2014
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| 4 | NKX2-1, NKX2-4
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| nkx2.1 and nkx2.4 genes function partially redundant during development of the zebrafish hypothalamus, preoptic region, and pallidum.
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| Manoli M, Driever W.
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| Front Neuroanat. Dec 2;8:145. doi: 10.3389/fnana.2014.00145. 2014
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| 5 | NKX2-1
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| The complexity of thyroid transcription factor 1 with both pro- and anti-oncogenic activities.
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| Mu D.
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| J Biol Chem 288(35):24992-5000. doi: 10.1074/jbc.R113.491647. Epub 2013 Jul 1. Review.
2013
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| 6 | NKX2-1
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| A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.
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| Young LR, Deutsch GH, Bokulic RE, Brody AS, Nogee LM.
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| Chest 144(4):1199-206. doi: 10.1378/chest.13-0811.
2013
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| 7 | NKX2-1
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| Ectopic expression of homeobox gene NKX2-1 in diffuse large B-cell lymphoma is mediated by aberrant chromatin modifications.
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| Nagel S, Ehrentraut S, Tomasch J, Quentmeier H, Meyer C, Kaufmann M, Drexler HG, MacLeod RA.
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| PLoS One 8(4):e61447. doi: 10.1371/journal.pone.0061447. Print 2013. Erratum in: PLoS One. 2013;8(6). doi:10.1371/annotation/3989404d-132 2013
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| 8 | NKX2-1, TGDRD
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| Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
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| Nettore IC, Mirra P, Ferrara AM, Sibilio A, Pagliara V, Kay CS, Lorenzoni PJ, Werneck LC, Bruck I, Dos Santos LH, Beguinot F, Salvatore D, Ungaro P, Fenzi G, Scola RH, Macchia PE.
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| Thyroid 23(6):675-82. doi: 10.1089/thy.2012.0267.
2013
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| 9 | NKX2-1
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| NKX2-1 activation by SMAD2 signaling after definitive endoderm differentiation in human embryonic stem cell.
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| Li Y, Eggermont K, Vanslembrouck V, Verfaillie CM.
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| Stem Cells Dev 22(9):1433-42. doi: 10.1089/scd.2012.0620. Epub 2013 Feb 19.
2013
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| 10 | NKX2-1, OCLN
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| Occludin is a direct target of thyroid transcription factor-1 (TTF-1/NKX2-1).
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| Runkle EA, Rice SJ, Qi J, Masser D, Antonetti DA, Winslow MM, Mu D.
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| J Biol Chem 287(34):28790-801. doi: 10.1074/jbc.M112.367987. Epub 2012 Jul 2.
2012
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| 11 | GRHL2, NKX2-1
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| The transcription factors Grainyhead-like 2 and NK2-homeobox 1 form a regulatory loop that coordinates lung epithelial cell morphogenesis and differentiation.
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| Varma S, Cao Y, Tagne JB, Lakshminarayanan M, Li J, Friedman TB, Morell RJ, Warburton D, Kotton DN, Ramirez MI.
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| J Biol Chem 287(44):37282-95. doi: 10.1074/jbc.M112.408401. Epub 2012 Sep 6.
2012
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| 12 | MYBPH, NKX2-1, ROCK1
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| MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis.
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| Hosono Y, Yamaguchi T, Mizutani E, Yanagisawa K, Arima C, Tomida S, Shimada Y, Hiraoka M, Kato S, Yokoi K, Suzuki M, Takahashi T.
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| EMBO J 31(2):481-93. doi: 10.1038/emboj.2011.416.
2011
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| 13 | NKX2-1, RUNX2
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| Thyroid-specific gene expression in chondrocytes.
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| Endo T, Kobayashi T.
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| Biochem Biophys Res Commun 416(3-4):227-31. doi: 10.1016/j.bbrc.2011.08.122. Epub 2011 Sep 16.
2011
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| 14 | HOXB5, NKX2-1, RET
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| HOXB5 cooperates with NKX2-1 in the transcription of human RET.
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| Zhu J, Garcia-Barcelo MM, Tam PK, Lui VC.
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| PLoS One 6(6):e20815. doi: 10.1371/journal.pone.0020815. Epub 2011 Jun 3.
2011
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| 15 | NKX2-1
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| In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1.
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| Silberschmidt D, Rodriguez-Mallon A, Mithboakar P, Calì G, Amendola E, Sanges R, Zannini M, Scarfò M, De Luca P, Nitsch L, Di Lauro R, De Felice M.
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| BMC Dev Biol 11:9. doi: 10.1186/1471-213X-11-9.
2011
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| 16 | NKX2-1
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| Sonic hedgehog expressing and responding cells generate neuronal diversity in the medial amygdala.
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| Carney RS, Mangin JM, Hayes L, Mansfield K, Sousa VH, Fishell G, Machold RP, Ahn S, Gallo V, Corbin JG.
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| Neural Dev 5:14. doi: 10.1186/1749-8104-5-14.
2010
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| 17 | NKX2-1
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| The progenitor zone of the ventral medial ganglionic eminence requires Nkx2-1 to generate most of the globus pallidus but few neocortical interneurons.
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| Flandin P, Kimura S, Rubenstein JL.
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| J Neurosci 30(8):2812-23. doi: 10.1523/JNEUROSCI.4228-09.2010.
2010
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| 18 | NKX2-1, TGDRD
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| Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.
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| Maquet E, Costagliola S, Parma J, Christophe-Hobertus C, Oligny LL, Fournet JC, Robitaille Y, Vuissoz JM, Payot A, Laberge S, Vassart G, Van Vliet G, Deladoëy J.
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| J Clin Endocrinol Metab 94(1):197-203. Epub 2008 Oct 28.
2009
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| 19 | NKX2-1, NKX2-8
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| Characterizing the developmental pathways TTF-1, NKX2-8, and PAX9 in lung cancer.
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| Hsu DS, Acharya CR, Balakumaran BS, Riedel RF, Kim MK, Stevenson M, Tuchman S, Mukherjee S, Barry W, Dressman HK, Nevins JR, Powers S, Mu D, Potti A.
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| Proc Natl Acad Sci U S A 106(13):5312-7. Epub 2009 Mar 11.
2009
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| 20 | BHC, NKX2-1, TGDRD
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| Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
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| Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M.
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| Hum Mol Genet 18(12):2266-76. Epub 2009 Mar 31. 2009
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| 21 | ARX, DLX1, DLX2, EMX1, EMX2, GSX2, LHX1, LHX5, LHX2, LHX6, LHX8, NKX2-1, OTX1, OTX2, PAX6
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| Homeobox genes in vertebrate forebrain development and disease.
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| Wigle JT, Eisenstat DD.
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| Clin Genet 73(3):212-26. Epub 2008 Jan 31. Review. 2008
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| 22 | LHX6, NKX2-1
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| NKX2.1 specifies cortical interneuron fate by activating Lhx6.
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| Du T, Xu Q, Ocbina PJ, Anderson SA.
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| Development 135(8):1559-67. Epub 2008 Mar 13.PMID: 18339674 2008
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| 23 | NKX2-1
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| Genomic profiling identifies TITF1 as a lineage-specific oncogene amplified in lung cancer.
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| Kwei KA, Kim YH, Girard L, Kao J, Pacyna-Gengelbach M, Salari K, Lee J, Choi YL, Sato M, Wang P, Hernandez-Boussard T, Gazdar AF, Petersen I, Minna JD, Pollack JR.
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| Oncogene 27(25):3635-40. Epub 2008 Jan 21.PMID: 18212743 2008
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| 24 | NKX2-1, TITF1
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| TTF-1 regulates growth hormone and prolactin transcription in the anterior pituitary gland.
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| Lee NO, Son YJ, Kim JG, Ha CM, Yun CH, Lim HL, Park JW, D'Elia AV, Damante G, Lee BJ.
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| Biochem Biophys Res Commun 362(1):193-9. Epub 2007 Aug 10. 2007
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| 25 | FOXA1, NKX2-1
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| Physical and functional interactions between homeodomain NKX2.1 and winged helix/forkhead FOXA1 in lung epithelial cells.
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| Minoo P, Hu L, Xing Y, Zhu NL, Chen H, Li M, Borok Z, Li C.
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| Mol Cell Biol 27(6):2155-65. Epub 2007 Jan 12.
2007
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| 26 | PARP1, PARP2, NKX2-1
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| PARP-2 interacts with TTF-1 and regulates expression of surfactant protein-B.
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| Maeda Y, Hunter TC, Loudy DE, DavŽ V, Schreiber V, Whitsett JA.
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| J Biol Chem 281(14):9600-6. Epub 2006 Feb 6. 2006
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| 27 | NKX2-1, RET
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| TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.
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| Garcia-Barcelo M, Ganster RW, Lui VC, Leon TY, So MT, Lau AM, Fu M, Sham MH, Knight J, Zannini MS, Sham PC, Tam PK.
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| Hum Mol Genet 14(2):191-204. Epub 2004 Nov 17. 2005
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| 28 | NKX2-1
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| A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
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| Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schoning M, Gasser T.
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| Neurology 64(11):1952-4. 2005
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| 29 | SLC26A4, NKX2-1
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| 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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| Dentice M, Luongo C, Elefante A, Ambrosio R, Salzano S, Zannini M, Nitsch R, Di Lauro R, Rossi G, Fenzi G, Salvatore D.
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| Mol Cell Biol 25(22):10171-82. 2005
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| 30 | NKX2-1, BMP4
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| NKX2.1 regulates transcription of the gene for human bone morphogenetic protein-4 in lung epithelial cells.
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| Zhu NL, Li C, Xiao J, Minoo P.
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| Gene 327(1):25-36. 2004
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| 31 | TAZ, NKX2-1
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| TAZ interacts with TTF-1 and regulates expression of surfactant protein-C.
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| Park KS, Whitsett JA, Di Palma T, Hong JH, Yaffe MB, Zannini M.
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| J Biol Chem 279(17):17384-90. Epub 2004 Feb 17. 2004
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| 32 | BHC, NKX2-1, TITF1
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| Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
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| Doyle DA, Gonzalez I, Thomas B, Scavina M.
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| J Pediatr 145(2):190-3. 2004
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| 33 | BHC, NKX2-1
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| Mutations in TITF-1 are associated with benign hereditary chorea.
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| Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Gruters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P.
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| Hum Mol Genet 11(8):971-9. 2002
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| 34 | BHC, NKX2-1, TITF1
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| Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
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| Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Gruters A.
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| J Clin Invest 109(4):475-80. 2002
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| 35 | CLDN18, NKX2-1
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| claudin-18, a novel downstream target gene for the T/EBP/NKX2.1 homeodomain transcription factor, encodes lung- and stomach-specific isoforms through alternative splicing.
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| Niimi T, Nagashima K, Ward JM, Minoo P, Zimonjic DB, Popescu NC, Kimura S.
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| Mol Cell Biol 21(21):7380-90. 2001
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| 36 | NKX2-1
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| Two functionally distinct forms of NKX2.1 protein are expressed in the pulmonary epithelium.
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| Li C, Cai J, Pan Q, Minoo P.
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| Biochem Biophys Res Commun 270(2):462-8. 2000
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| 37 | NKX2-1, TITF1
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| Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.
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| Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T.
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| J Pediatr 137(2):272-6. 2000
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| 38 | NKX2-2, NKX2-4, NKX2-8, NKX2-1
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| Conserved linkage of NK-2 homeobox gene pairs Nkx2-2/2-4 and Nkx2-1/2-9 in mammals.
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| Wang CC, Brodnicki T, Copeland NG, Jenkins NA, Harvey RP.
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| Mamm Genome 11(6):466-8. 2000
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| 39 | NKX2-1, TITF1
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| Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.
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| Devriendt K, Vanhole C, Matthijs G, de Zegher F.
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| N Engl J Med 338(18):1317-8. No abstract available. 1998
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| 40 | HPE8, NKX2-1
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| Holoprosencephaly in deletions of proximal chromosome 14q.
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| Devriendt K, et al.
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| J Med Genet 35 : 612-614. 1998
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| 41 | NKX2-1, TG
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| Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.
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| Acebron A, Aza-Blanc P, Rossi DL, Lamas L, Santisteban P.
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| J Clin Invest 96(2):781-5. 1995
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| 42 | NKX2-1
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| Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells.
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| Ikeda K, et al.
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| J Biol Chem 270 : 8108-8114. 1995
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| 43 | NKX2-1
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| Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and dysplays a novel DNA binding specificity.
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| Guazzi S, et al.
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| EMBO J 9 / 363163639. 1990
|