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We found that three genes had nominally significant interactions (p <0.05; Excel Table S9): cysteine-rich angiogenic inducer 61 (CYR61; also known as cellular communication network factor 1; CCN1), cyclin-dependent kinase inhibitor 1C (CDKN1C), and COPG2.
CDH: Cadherin; CDK: cyclin-dependent kinase; CDKN1C: cyclin-CDK inhibitor p57; EMT: epithelial-mesenchymal-transition; EZH2: enhancer of zeste 2; MMP: metalloprotease; [p21.sup.cipl]: p21 CDK-interacting protein 1; [p57.sup.KIP2]: p57 kinase inhibitory protein 2; RUNX3: runt-domain transcription factor 3.
The cyclin-dependent kinase inhibitor 1C (CDKN1C) gene encodes for making a protein that helps regulate growth.
IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder at chromosome 11p15 that leads to increased activity of insulin-like growth factor-2 (IGF2) and reduced activity, with no active copy of the inhibitor of cell proliferation, CDKN1C, resulting in excessive growth and increased risk of tumour formation.
These include cytogenetic abnormalities, genetic abnormalities [11p 15 [11, 12] paternal uniparental disomy (UPD), mutations in the CDKN1C gene], epigenetic abnormalities [H19 gene, KCNQ1OT1 gene & microdeletions within IC1 or IC2.
There is also a second domain that consists of the CDKN1C gene, which acts as an in-utero negative regulator of cell growth.
The P57kip2 protein is a cyclin - dependent kinase - inhibitor (CDKN1C) and tumour suppressor encoded by a paternally imprinted gene, located on chromosome 11p15.5 and predominantly expressed from the maternal allele in most cases.
Methylation at the KvDMR controls the imprinted transcription of a long noncoding RNA, KCNQ1OT1, which is required for the imprinted expression of several growth regulators, including PHLDA2 and CDKN1C, whose expression levels are negatively correlated with birth weight (Apostolidou et al.
P57, a cyclin-dependent kinase inhibitor protein encoded by the CDKN1C gene on chromosome 11, is one such example, making p57 immunohistochemistry suitable for differentiating between CHMs and its mimics that contain maternal genetic material.
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