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These findings expand the spectrum of mutations in POGLUT1 and confirm POGLUT1 as the third candidate gene, along with KRT5 (zeige KRT5 Proteine) and POFUT1 (zeige POFUT1 Proteine), to consider in diagnosis of GGD/DDD (zeige KRT5 Proteine).
These data suggest that a key pathomechanism for this novel form of muscular dystrophy with POGLUT1 mutation is Notch (zeige NOTCH1 Proteine)-dependent loss of satellite cells.
hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation
miR (zeige MLXIP Proteine)-134 inhibited human endometrial cancer stem cells proliferation and migration by targeting protein O-glucosyltransferase 1 (POGLUT1) expression
Mutations in POFUT1 (zeige POFUT1 Proteine), which encodes protein O-fucosyltransferase 1 (zeige POFUT1 Proteine), 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 (zeige CDK1 Proteine) inhibitors p21 (zeige CDKN1A Proteine) and p27 (zeige PAK2 Proteine), whereas reduced hCLP46 expression moderately increased cell proliferation.
lack of hCLP46 results in impaired ligand induced Notch (zeige NOTCH1 Proteine) activation in mammalian cell, and hCLP46 regulates the proliferation of U937 cell through CDKI (zeige CDKN1C Proteine)-RB signaling pathway, which may be important for the pathogenesis of leukemia.
CLP46 was overexpressed in AML (zeige RUNX1 Proteine), T-ALL, and leukemic cell lines. Considering that CLP46 has the capability of modifying the Notch (zeige NOTCH1 Proteine) pathway, our finding adds weight to the possible importance of Notch (zeige NOTCH1 Proteine) signaling in the pathogenesis of AML (zeige RUNX1 Proteine) 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 (zeige CD34 Proteine)+ cells.
Removing one copy of Rumi suppresses the Jag1 (zeige JAG1 Proteine)(+/-) bile duct phenotype, indicating that Rumi opposes JAG1 (zeige JAG1 Proteine) function in the liver
The data demonstrate that CRUMBS2 is the target of POGLUT1 for the gastrulation epithelial-to-mesenchymal transitions (EMT (zeige ITK Proteine)) 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