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These findings expand the spectrum of mutations in POGLUT1 and confirm POGLUT1 as the third candidate gene, along with KRT5 (show KRT5 Proteins) and POFUT1 (show POFUT1 Proteins), to consider in diagnosis of GGD/DDD (show KRT5 Proteins).
These data suggest that a key pathomechanism for this novel form of muscular dystrophy with POGLUT1 mutation is Notch (show NOTCH1 Proteins)-dependent loss of satellite cells.
hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation
miR (show MLXIP Proteins)-134 inhibited human endometrial cancer stem cells proliferation and migration by targeting protein O-glucosyltransferase 1 (POGLUT1) expression
Mutations in POFUT1 (show POFUT1 Proteins), which encodes protein O-fucosyltransferase 1 (show POFUT1 Proteins), were reported to be responsible for Dowling-Degos disease.
overexpression of hCLP46 inhibited proliferation of 293TRexs and was correlated with increases in cyclin dependent kinase (show CDK1 Proteins) inhibitors p21 (show CDKN1A Proteins) and p27 (show PAK2 Proteins), whereas reduced hCLP46 expression moderately increased cell proliferation.
lack of hCLP46 results in impaired ligand induced Notch (show NOTCH1 Proteins) activation in mammalian cell, and hCLP46 regulates the proliferation of U937 cell through CDKI (show CDKN1C Proteins)-RB signaling pathway, which may be important for the pathogenesis of leukemia.
CLP46 was overexpressed in AML (show RUNX1 Proteins), T-ALL, and leukemic cell lines. Considering that CLP46 has the capability of modifying the Notch (show NOTCH1 Proteins) pathway, our finding adds weight to the possible importance of Notch (show NOTCH1 Proteins) signaling in the pathogenesis of AML (show RUNX1 Proteins) and T-ALL.
Altered C3ORF9 expression in myelodysplastic syndrome was possibly due to different gene regulation in these patients and/or to the increased CD34 (show CD34 Proteins)+ cells.
Removing one copy of Rumi suppresses the Jag1 (show JAG1 Proteins)(+/-) bile duct phenotype, indicating that Rumi opposes JAG1 (show JAG1 Proteins) function in the liver
The data demonstrate that CRUMBS2 is the target of POGLUT1 for the gastrulation epithelial-to-mesenchymal transitions (EMT (show ITK Proteins)) and that all activity of CRUMBS2 depends on modification by POGLUT1
Rumi(-/-) embryos die before embryonic day 9.5 with posterior axis truncation and severe defects in neural tube development, somitogenesis, cardiogenesis and vascular remodeling.
UDP-glucosyltransferase (By similarity).
, CAP10-like 46 kDa protein
, CAP10-like protein, 46 kDa
, KDELC family like 1
, KTEL (Lys-Tyr-Glu-Leu) containing 1
, KTEL motif-containing protein 1
, myelodysplastic syndromes relative protein
, x 010 protein