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The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982.
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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Nat Genet. 2008 Nov;40(11):1348-53. doi: 10.1038/ng.230. Epub 2008 Oct 5.
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Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12.
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Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Dev Cell. 2008 Aug;15(2):236-47. doi: 10.1016/j.devcel.2008.07.003.
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Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.
Hum Mol Genet. 2008 Oct 1;17(19):2986-96. doi: 10.1093/hmg/ddn197. Epub 2008 Jul 9.
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Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly.
Birth Defects Res A Clin Mol Teratol. 2008 Apr;82(4):224-31. doi: 10.1002/bdra.20447.
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Six3 inactivation causes progressive caudalization and aberrant patterning of the mammalian diencephalon.
Development. 2008 Feb;135(3):441-50. doi: 10.1242/dev.010082. Epub 2007 Dec 19.
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Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain.
Dev Neurobiol. 2008 Jan;68(1):83-100. doi: 10.1002/dneu.20576.
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Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly.
Development. 2007 Nov;134(21):3789-94. doi: 10.1242/dev.004325. Epub 2007 Oct 3.
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Holoprosencephaly: new models, new insights.
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