HAMED JAFAR-NEJAD to Mutation
This is a "connection" page, showing publications HAMED JAFAR-NEJAD has written about Mutation.
Connection Strength
0.359
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Xylosylation of the Notch receptor preserves the balance between its activation by trans-Delta and inhibition by cis-ligands in Drosophila. PLoS Genet. 2017 04; 13(4):e1006723.
Score: 0.052
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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med. 2016 11; 8(11):1289-1309.
Score: 0.051
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A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 2015 Aug; 25(8):836-44.
Score: 0.045
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Structure-function analysis of Drosophila Notch using genomic rescue transgenes. Methods Mol Biol. 2014; 1187:29-46.
Score: 0.041
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Negative regulation of notch signaling by xylose. PLoS Genet. 2013 Jun; 9(6):e1003547.
Score: 0.040
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Multiple O-glucosylation sites on Notch function as a buffer against temperature-dependent loss of signaling. Development. 2011 Aug; 138(16):3569-78.
Score: 0.035
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Sec15, a component of the exocyst, promotes notch signaling during the asymmetric division of Drosophila sensory organ precursors. Dev Cell. 2005 Sep; 9(3):351-63.
Score: 0.023
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Mapping Drosophila mutations with molecularly defined P element insertions. Proc Natl Acad Sci U S A. 2003 Sep 16; 100(19):10860-5.
Score: 0.020
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, a-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol. 2020 03; 139(3):565-582.
Score: 0.016
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Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi). Stem Cell Res. 2017 10; 24:102-105.
Score: 0.013
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Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase. Proc Natl Acad Sci U S A. 2011 Oct 04; 108(40):16600-5.
Score: 0.009
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Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling. Cell. 2008 Jan 25; 132(2):247-58.
Score: 0.007
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The tumour-suppressor genes NF2/Merlin and Expanded act through Hippo signalling to regulate cell proliferation and apoptosis. Nat Cell Biol. 2006 Jan; 8(1):27-36.
Score: 0.006