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these results demonstrate a new role for the NPRL2, distinct from its function in mTORC1 regulation.
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Arg-78 of Nprl2 catalyzes GATOR1-stimulated GTP hydrolysis by the Rag GTPases.
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overall, 63 distinct variants were identified: 53 in DEPDC5, three in NPRL2 and seven in NPRL3 . Among these, 46 were novel (including 39 single nucleotide variants and seven CNVs) and 16 were newly defined as recurrent variants; 34 were loss-of-function (LoF) variants (nonsense, splice-site, frameshift indels and CNVs).
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The expression level of NPRL2 was significantly up-regulated in prostate cancer and its high expression was correlated with poor prognosis.
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The high levels of NPRL2 expression in castrate-resistant prostate cancer promote resistance to Everolimus by enhancing autophagy.
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NPRL2 overexpression enhances sensitivity to CPT-11 treatment in colon cancer cells.
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We found no correlation between the DLEC1, TUSC4 and MLH1 gene expression and NSCLC patient characteristics (gender, age and smoking) or cancer histopathology. No significant differences in the gene expression among NSCLC subtypes indicate the weakness of DLEC1, TUSC4 and MLH1 expression analysis as potential differentiating markers of NSCLC subtypes in the Polish population.
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This study demonstrated that NPRL2 mutation in familial focal epilepsies and focal cortical dysplasia.
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Data confirmed NPRL2 was downregulated in gliomas. More importantly, NPRL2 was able to inhibit cell proliferation in vitro and repress tumorigenicity in vivo, suggesting its role as a tumor suppressor.
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The positive regulation of mTORC1 activity by NPRL2 is mediated through NPRL2 interaction with Raptor.
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NPRL2 mutations are significant cause of focal epilepsy.
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NPRL2 acts as a functional tumor suppressor in colorectal cancer cell lines.
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NPRL2 enhances sensitivity to oxaliplatin in colon cancer cells.
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Decreased expression of NPRL2 is associated with renal cancer.
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NPRL2 mRNA blood levels could be a potentially useful marker for the detection of early stage adenomas and colorectal cancers.
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Results provide a set of genetic and biologic proofs that TUSC4 functions as a bona fide tumor suppressor by regulating the protein stability and function of BRCA1 in breast cancer.
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NPRL2 expression is negatively related with the survival of osteosarcoma patients, indicating its value as a prognosis factor of osteosarcoma.
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Lower NPRL2 expression was observed significantly more frequently in poorly differentiated tumor samples than in highly or moderately differentiated colon tumors.
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tumor suppressor genes RBSP3/CTDSPL, NPRL2/G21 and RASSF1A are downregulated in primary non-small cell lung cancer
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Data indicate that Npr2, a homolog of human NPRL2, is a phosphorylation-dependent target of the SCF(Grr1) E3 ubiquitin ligase that plays a role in cell growth on some nitrogen sources.