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Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling.
The data suggest that hCLP46(human CAP10-like protein 46 kDa) overexpression in colorectal cancer is associated with higher tumor-node-metastasis stage, lymph node metastasis, and shorter survival time.
These findings expand the spectrum of mutations in POGLUT1 and confirm POGLUT1 as the third candidate gene, along with KRT5 and POFUT1, to consider in diagnosis of GGD/DDD.
These data suggest that a key pathomechanism for this novel form of muscular dystrophy with POGLUT1 mutation is Notch-dependent loss of satellite cells.
hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation
miR-134 inhibited human endometrial cancer stem cells proliferation and migration by targeting protein O-glucosyltransferase 1 (POGLUT1) expression
Mutations in POFUT1, which encodes protein O-fucosyltransferase 1, 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 inhibitors p21 and p27, whereas reduced hCLP46 expression moderately increased cell proliferation.
lack of hCLP46 results in impaired ligand induced Notch activation in mammalian cell, and hCLP46 regulates the proliferation of U937 cell through CDKI-RB signaling pathway, which may be important for the pathogenesis of leukemia.
CLP46 was overexpressed in AML, T-ALL, and leukemic cell lines. Considering that CLP46 has the capability of modifying the Notch pathway, our finding adds weight to the possible importance of Notch signaling in the pathogenesis of AML 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+ cells.
Removing one copy of Rumi suppresses the Jag1(+/-) bile duct phenotype, indicating that Rumi opposes JAG1 function in the liver
The data demonstrate that CRUMBS2 is the target of POGLUT1 for the gastrulation epithelial-to-mesenchymal transitions (EMT) 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