| 1 | AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
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| Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
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| Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N.
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| Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
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| 2 | BBX, NFIX
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| Nuclear factor one X regulates Bobby sox during development of the mouse forebrain.
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| Dixon C, Harvey TJ, Smith AG, Gronostajski RM, Bailey TL, Piper M.
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| Cell Mol Neurobiol 33(7):867-73. doi: 10.1007/s10571-013-9961-4. Epub 2013 Jul 14.
2013
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| 3 | NFIX
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| Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
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| Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N.
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| J Hum Genet 57(3):207-11. doi: 10.1038/jhg.2012.7. Epub 2012 Feb 2.
2012
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| 4 | CKM, ENO3, NFIX, PAX7
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| Nfix Regulates Fetal-Specific Transcription in Developing Skeletal Muscle.
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| Messina G, Biressi S, Monteverde S, Magli A, Cassano M, Perani L, Roncaglia E, Tagliafico E, Starnes L, Campbell CE, Grossi M, Goldhamer DJ, Gronostajski RM, Cossu G.
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| Cell 140(4):554-566.
2010
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| 5 | DEL19P13, DUP19P13, NFIX
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| A novel microdeletion/microduplication syndrome of 19p13.13.
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| Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B.
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| Genet Med 12(8):503-11. 2010
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| 6 | DEL19P13, MSMS, NFIX, STOL1
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| Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
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| Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljiĉ S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V.
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| Am J Hum Genet 87(2):189-98. Epub 2010 Jul 30. 2010
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| 7 | NFIX
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| Switch NFix developmental myogenesis.
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| Palacios D, Puri PL.
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| Dev Cell 18(3):340-1.PMID: 20230743 2010
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| 8 | CGGBP1, HSF1, NFIX
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| A DNA sequence directed mutual transcription regulation of HSF1 and NFIX involves novel heat sensitive protein interactions.
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| Singh U, Bongcam-Rudloff E, Westermark B.
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| PLoS One 4(4):e5050. Epub 2009 Apr 1.PMID: 19337383 2009
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| 9 | NFIX
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| Nuclear factor one transcription factors in CNS development.
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| Mason S, Piper M, Gronostajski RM, Richards LJ.
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| Mol Neurobiol 39(1):10-23. Epub 2008 Dec 5.PMID: 19058033 2009
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| 10 | NFIX
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| Nuclear factor I isoforms regulate gene expression during the differentiation of human neural progenitors to astrocytes.
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| Wilczynska KM, Singh SK, Adams B, Bryan L, Rao RR, Valerie K, Wright S, Griswold-Prenner I, Kordula T.
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| Stem Cells 27(5):1173-81.
2009
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| 11 | NFIX
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| The transcription factor Nfix is essential for normal brain development.
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| Campbell CE, Piper M, Plachez C, Yeh YT, Baizer JS, Osinski JM, Litwack ED, Richards LJ, Gronostajski RM.
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| BMC Dev Biol 8:52.PMID: 18477394 2008
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| 12 | NFIA, NFIB, NFIX
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| Emx and Nfi genes regulate cortical development and axon guidance in the telencephalon.
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| Piper M, Dawson AL, Lindwall C, Barry G, Plachez C, Richards LJ.
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| Novartis Found Symp 288:230-242; discussion 242-5, 276-81. Review.PMID: 18494262 2007
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| 13 | NFIX, GFAP
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| Nuclear factor-1-X regulates astrocyte-specific expression of the alpha1-antichymotrypsin and glial fibrillary acidic protein genes.
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| Gopalan SM, Wilczynska KM, Konik BS, Bryan L, Kordula T.
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| J Biol Chem 281(19):13126-33. Epub 2006 Mar 23. 2006
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| 14 | NFIX
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| Interactions between c-Jun, nuclear factor 1, and JC virus promoter sequences: implications for viral tropism.
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| Ravichandran V, Sabath BF, Jensen PN, Houff SA, Major EO.
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| J Virol 80(21):10506-13. Epub 2006 Aug 23.
2006
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| 15 | NFIX
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| Two nuclear localization signals are required for nuclear translocation of nuclear factor 1-A.
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| Imagawa M, Sakaue R, Tanabe A, Osada S, Nishihara T.
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| FEBS Lett 484(2):118-24. 2000
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| 16 | NFIX
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| Expression of multiple classes of the nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes.
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| Sumner C, Shinohara T, Durham L, Traub R, Major EO, Amemiya K.
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| J Neurovirol 2(2):87-100. 1996
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| 17 | NFIA, NFIB, NFIC, NFIX
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| Chromosomal localization of the four genes (NFIA, B, C and X) for the human transcription factor nuclear factor I by FISH.
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| Qian F, et al.
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| Genomics 28 : 66-73. 1995
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| 18 | NFIX
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| Cloning and functional analysis of spliced isoforms of human nuclear factor I-X: interference with transcriptional activation by NFI/CTF in a cell-type specific manner.
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| Apt D, Liu Y, Bernard HU.
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| Nucleic Acids Res 22(19):3825-33. 1994
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| 19 | NFIX
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| Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21-22, 1p42-43, 5q15, 11p13 and 20q13 by FISH.
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| Seisenberger C, et al.
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| Hum Genet 91 : 535-537. 1993
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