| 1 | BARX1, ISL1, PITX1, PITX2, SIX2
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| Control of stomach smooth muscle development and intestinal rotation by transcription factor BARX1.
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| Jayewickreme CD, Shivdasani RA.
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| Dev Biol 405(1):21-32. doi: 10.1016/j.ydbio.2015.05.024. Epub 2015 Jun 6.
2015
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| 2 | DUX4, FSHMD1A, PITX1
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| DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
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| Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, Ansseau E, Chen YW, Mercier J, Coppée F, Belayew A.
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| J Cell Mol Med 17(1):76-89. doi: 10.1111/j.1582-4934.2012.01647.x. Epub 2012 Dec 4. 2013
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| 3 | LBNBG, PITX1
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| Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus.
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| Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S.
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| Am J Hum Genet 91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27.
2012
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| 4 | PITX1, THCF
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| Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
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| Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I.
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| Eur J Hum Genet 20(6):705-8. doi: 10.1038/ejhg.2011.264. Epub 2012 Jan 18.
2012
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| 5 | DEL5Q31, PITX1, SMAD5, WNT8A
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| Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
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| Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG.
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| Am J Med Genet A 155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8. 2011
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| 6 | DEL5Q31, PITX1
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| Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
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| Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA.
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| Hum Mol Genet 20(20):3943-52. Epub 2011 Jul 20. 2011
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| 7 | PITX1
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| Identification of PITX1 as a TERT suppressor gene located on human chromosome 5.
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| Qi DL, Ohhira T, Fujisaki C, Inoue T, Ohta T, Osaki M, Ohshiro E, Seko T, Aoki S, Oshimura M, Kugoh H.
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| Mol Cell Biol 31(8):1624-36. Epub 2011 Feb 7.
2011
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| 8 | ABL1, PITX1
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| The c-Abl tyrosine kinase stabilizes Pitx1 in the apoptotic response to DNA damage.
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| Yamaguchi T, Miki Y, Yoshida K.
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| Apoptosis 15(8):927-35.
2010
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| 9 | ENO1, PITX1, SF1, TRAPPC2
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| SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
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| Jeyabalan J, Nesbit MA, Galvanovskis J, Callaghan R, Rorsman P, Thakker RV.
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| PLoS One 5(5):e10646.
2010
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| 10 | PITX1, THCF
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| Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation.
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| Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB.
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| Am J Hum Genet m J Hum Genet. 2008 Oct 22. [Epub ahead of print] 2008
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| 11 | PITX1
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| Deletion of the Pitx1 genomic locus affects mandibular tooth morphogenesis and expression of the Barx1 and Tbx1 genes.
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| Mitsiadis TA, Drouin J.
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| Dev Biol 313(2):887-96. Epub 2007 Nov 17.PMID: 1808267 2008
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| 12 | DUX4, PITX1, FSHMD1A
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| DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.
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| Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattˇotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppˇe F, Chen YW.
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| Proc Natl Acad Sci U S A 104(46):18157-62. Epub 2007 Nov 5. 2007
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| 13 | PITX1, TBX4, TBX5
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| Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth.
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| Minguillon C, Del Buono J, Logan MP.
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| Dev Cell 8(1):75-84. 2005
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| 14 | PITX1, RASAL1
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| A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity.
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| Kolfschoten IG, van Leeuwen B, Berns K, Mullenders J, Beijersbergen RL, Bernards R, Voorhoeve PM, Agami R.
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| Cell 121(6):849-58. 2005
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| 15 | PITX1, PITX2
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| Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter.
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| Quentien MH, Manfroid I, Moncet D, Gunz G, Muller M, Grino M, Enjalbert A, Pellegrini I.
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| J Biol Chem 277(46):44408-16. Epub 2002 Sep 9. 2002
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| 16 | PITX1, PROP1
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| Expression of the pituitary transcription factor Ptx-1, but not that of the trans-activating factor prop-1, is reduced in human corticotroph adenomas and is associated with decreased alpha-subunit secretion.
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| Skelly RH, Korbonits M, Grossman A, Besser GM, Monson JP, Geddes JF, Burrin JM.
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| J Clin Endocrinol Metab 85(7):2537-42. 2000
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| 17 | PITX1, TBX4
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| Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity.
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| Logan M, Tabin CJ.
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| Science 283(5408):1736-9. 1999
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| 18 | PITX1
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| Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development.
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| Szeto DP, Rodriguez-Esteban C, Ryan AK, O'Connell SM, Liu F, Kioussi C, Gleiberman AS, Izpisua-Belmonte JC, Rosenfeld MG.
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| Genes Dev 13(4):484-94. 1999
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| 19 | PITX1
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| Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft).
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| Shang J, et al.
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| Genomics 40 : 108-113. 1997
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| 20 | PITX1
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| Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.
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| Crawford MJ, Lanctot C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J.
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| Mamm Genome 8(11):841-5. 1997
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| 21 | PITX1
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| Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene.
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| Lamonerie T, et al.
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| Genes Dev 10 : 1284-1295. 1996
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| 22 | PITX1
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| P-OTX : a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development.
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| Szeto DP, et al.
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| Proc Natl Acad Sci U S A 93 : 7706-7710. 1996
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