| 1 | EIEE55, PIGP
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| Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
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| Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM.
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| Hum Mol Genet 26(9):1706-1715. doi: 10.1093/hmg/ddx077.
2017
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| 2 | KMT2D, PIGP
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| The histone methyltransferase Wbp7 controls macrophage function through GPI glycolipid anchor synthesis.
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| Austenaa L, Barozzi I, Chronowska A, Termanini A, Ostuni R, Prosperini E, Stewart AF, Testa G, Natoli G.
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| Immunity 36(4):572-85. doi: 10.1016/j.immuni.2012.02.016. Epub 2012 Apr 5. 2012
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| 3 | PIGP
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| Down syndrome critical region protein 5 regulates membrane localization of Wnt receptors, Dishevelled stability and convergent extension in vertebrate embryos.
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| Shao M, Liu ZZ, Wang CD, Li HY, Carron C, Zhang HW, Shi DL.
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| Development 136(12):2121-31. doi: 10.1242/dev.032649.
2009
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| 4 | PIGP
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| Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5).
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| Ferrando-Miguel R, Cheon MS, Lubec G.
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| Amino Acids 26(3):255-61. Epub 2004 Mar 16.
2004
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| 5 | PIGP
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| Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5).
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| Choi DK, Suzuki Y, Yoshimura S, Togashi T, Hida M, Taylor TD, Wang Y, Sugano S, Hattori M, Sakaki Y.
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| Mamm Genome 12(5):347-51. 2001
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| 6 | PIGP, RIPPLY3
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| Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2.
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| Shibuya K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Shimizu N.
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| Biochem Biophys Res Commun 271(3):693-8. 2000
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| 7 | PIGP
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| A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2.
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| Togashi T, Choi DK, Taylor TD, Suzuki Y, Sugano S, Hattori M, Sakaki Y.
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| DNA Res 7(3):207-12. 2000
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