| 1 | PAX6, SIX3
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| Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells.
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| Anchan RM, Lachke SA, Gerami-Naini B, Lindsey J, Ng N, Naber C, Nickerson M, Cavallesco R, Rowan S, Eaton JL, Xi Q, Maas RL.
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| PLoS One 9(12):e115106. doi: 10.1371/journal.pone.0115106. eCollection 2014.
2014
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| 2 | SIX3, SOX2
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| Genomic code for Sox2 binding uncovers its regulatory role in Six3 activation in the forebrain.
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| Lee B, Song H, Rizzoti K, Son Y, Yoon J, Baek K, Jeong Y.
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| Dev Biol 381(2):491-501. doi: 10.1016/j.ydbio.2013.06.016. Epub 2013 Jun 19.
2013
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| 3 | SIX3
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| Down-regulation of SIX3 is associated with clinical outcome in lung adenocarcinoma.
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| Mo ML, Okamoto J, Chen Z, Hirata T, Mikami I, Bosco-Clément G, Li H, Zhou HM, Jablons DM, He B.
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| PLoS One 8(8):e71816. doi: 10.1371/journal.pone.0071816. eCollection 2013.
2013
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| 4 | FOXG1, SIX3
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| Six3 cooperates with Hedgehog signaling to specify ventral telencephalon by promoting early expression of Foxg1a and repressing Wnt signaling.
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| Carlin D, Sepich D, Grover VK, Cooper MK, Solnica-Krezel L, Inbal A.
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| Development 139(14):2614-24. doi: 10.1242/dev.076018.
2012
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| 5 | SIX3
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| Six3 is required for ependymal cell maturation.
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| Lavado A, Oliver G.
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| Development 138(24):5291-300. doi: 10.1242/dev.067470. Epub 2011 Nov 9.
2011
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| 6 | HPE2, HPE3, HPE4, HPE5, SHH, SIX3, TGIF1, ZIC2
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| Analysis of genotype-phenotype correlations in human holoprosencephaly.
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| Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M.
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| Am J Med Genet C Semin Med Genet 154C(1):133-41. Review.PMID: 20104608 2010
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| 7 | HPE2, HPE3, HPE4, HPE5, TGIF, shh, six3, zic2
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| The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
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| Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.
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| Eur J Hum Genet 18(9):999-1005.
2010
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| 8 | HPE2, SIX3
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| Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
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| Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.
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| J Med Genet 46(6):389-98. Epub 2009 Apr 2.
2009
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| 9 | HPE2, SIX3
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| A novel SIX3 mutation segregates with holoprosencephaly in a large family.
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| Solomon BD, Lacbawan F, Jain M, Domené S, Roessler E, Moore C, Dobyns WB, Muenke M.
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| Am J Med Genet A 149A(5):919-25.
2009
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| 10 | APR3, HPE1, HPE10, HPE12, HPE13, HPE14, HPE15, HPE16, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9, SHH, SIX3, TGIF, ZIC2
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| Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
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| Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V.
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| Hum Mutat 30(8):1175-82. 2009
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| 11 | HPE2, SHH, SIX3
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| Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
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| Jeong Y, Leskow FC, El-Jaick K, Roessler E, Muenke M, Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ.
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| Nat Genet 40(11):1348-53. Epub 2008 Oct 5.
2008
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| 12 | HPE2, SIX3
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| Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
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| Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B.
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| Hum Mol Genet 17(24):3919-28. Epub 2008 Sep 12.
2008
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| 13 | MTA1, SIX3
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| Repression of Six3 by a corepressor regulates rhodopsin expression.
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| Manavathi B, Peng S, Rayala SK, Talukder AH, Wang MH, Wang RA, Balasenthil S, Agarwal N, Frishman LJ, Kumar R.
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| Proc Natl Acad Sci U S A 104(32):13128-33. Epub 2007 Jul 31. 2007
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| 14 | HPE3, HPE2, HPE4, HPE5, SHH, SIX3, TGIF1, ZIC2
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| Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
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| Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frebourg T, Haddad BR, Henry C, Odent S, David V.
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| Hum Genet 119(1-2):1-8. Epub 2005 Dec 2. 2006
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| 15 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
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| Homeodomain revisited: a lesson from disease-causing mutations.
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| Chi YI.
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| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
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| 16 | SIX3, SIX6, IDH1, CDH18
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| Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18.
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| Aijaz S, Allen J, Tregidgo R, van Heyningen V, Hanson I, Clark BJ.
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| Genomics 86(1):86-99. Epub 2005 Apr 18. 2005
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| 17 | GMNN, SIX3
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| Direct interaction of geminin and Six3 in eye development.
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| Del Bene F, Tessmar-Raible K, Wittbrodt J.
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| Nature 427(6976):745-9. 2004
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| 18 | HPE2, SIX3, NR4A3
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| Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.
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| Laflamme C, Filion C, Labelle Y.
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| Hum Mutat 24(6):502-8. 2004
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| 19 | NR4A3, SIX3
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| Coexpression of NOR1 and SIX3 proteins in extraskeletal myxoid chondrosarcomas without detectable NR4A3 fusion genes.
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| Hisaoka M, Okamoto S, Yokoyama K, Hashimoto H.
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| Cancer Genet Cytogenet 152(2):101-7. 2004
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| 20 | SHH, ZIC2, SIX3, TGIF1, HPE3, HPE5, HPE2, HPE4
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| Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
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| Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V.
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| Hum Mutat 24(1):43-51. 2004
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| 21 | SIX3
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| Regulation of the human SIX3 gene promoter.
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| Lengler J, Graw J.
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| Biochem Biophys Res Commun 287(2):372-6. 2001
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| 22 | HPE2, HPE3, HPE4, HPE8, SHH, SIX3, TGIF1, ZIC2
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| Mutations in holoprosencephaly.
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| Wallis D, Muenke M.
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| Hum Mutat 16(2):99-108. 2000
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| 23 | HPE2, SIX3
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| A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
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| Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S.
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| Eur J Hum Genet 8(10):797-800. 2000
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| 24 | DHRD, SIX3
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| Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.
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| Granadino B, et al.
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| Genomics 55 : 100-105. 1999
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| 25 | SIX3
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| Six3 overexpression initiates the formation of ectopic retina.
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| Loosli F, et al.
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| Genes Dev 13(6):649-54. 1999
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| 26 | SIX3, HPE2
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| Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
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| Wallis DE, et al.
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| Nat Genet 22(2):196-8. 1999
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