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Carney Complex
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
The two supplemental criteria for CNC diagnosis are (i) affected first-degree relative, and (ii) inactivating mutation of the PRKAR1A gene or activating pathogenic variants of PRKACA (single base substitutions and copy number variation) and PRKACB [1,2].
The endocrine system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Adrenocortical tumours arise from the epithelial cells of the adrenal cortex. Broadly, they may be benign adenomas or malignant tumours although it is commonly difficult to distinguish between these two groups. Adenomas are common, affecting 10% of the population. They usually present as a unilateral mass, sometimes incidentally discovered on imaging, and commonly are associated with hormonal secretion. Adenomas may be non-functioning or secrete aldosterone, cortisol, or sex hormones. Macroscopically adenomas are well circumscribed tan, yellow, or rarely black-coloured masses confined to the adrenal glands. Microscopically the sheets of lipid-rich cells resembling the layer of adrenal cortex they originated from (Figure 18.30). The lesional cells may show oncocytic change. Several genes are associated with adenoma formation with genes coding for plasma membrane potassium or calcium channels implicated in aldosterone secreting adenomas (KCNJ5 and ATP1A1). Cortisol secretin adenomas show gain of function mutations in PRKACA. Nonfunctioning adenomas may have CTNNB1 mutations affecting beta-catenin and the WNT pathway.
Carney Complex
Published in Dongyou Liu, Tumors and Cancers, 2017
The two supplemental criteria are (i) affected first-degree relative and (ii) inactivating mutation of the PRKAR1A gene or activating pathogenic variants of PRKACA (single base substitutions and copy number variation) and PRKACB [1,2].
Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development
Published in Organogenesis, 2023
Yuhan Song, Fujie Song, Xuan Xiao, Zhifeng Song, Shangfeng Liu
We summarized the genes with special expression levels in Table 1 and used the relative expression amounts of these genes as the ordinate to draw Figure 2. The mRNA expression levels of Fzd10 and Prkaca were mainly highly expressed mainly in the E14.5 stage. ThemRNAs of Fzd7 and Dkk2 were highly expressed mainly in E16.5 phase, the mRNA ofCer1 was highly expressed in E18.5 phase, while Ctnnbip1 and Dkk1 showed high expression in P1 phase. Wnt10b and Wnt10a were highly expressed in both E18.5and P1 phases. The mRNAs of Wnt3a, Serpinf1 and Dkk3 were highly expressed at the postnatal stage compared to the embryonic stage. In contrast, Wnt16 was expressed only at E14.5 and E16.5 stages. The expression of APC in the five stages of early tooth development is higher than 8.
Current status of sperm functional genomics and its diagnostic potential of fertility in bovine (Bos taurus)
Published in Systems Biology in Reproductive Medicine, 2018
Sellappan Selvaraju, Sivashanmugam Parthipan, Lakshminarayana Somashekar, B. Krishnan Binsila, Atul P. Kolte, Arunachalam Arangasamy, Janivara Parameshwaraiah Ravindra, Stephen A. Krawetz
CALM, protein kinase catalytic subunit alpha (PRKACA), and serine/threonine-protein phosphatase PP1-gamma catalytic subunit (PPP1CC) were identified as network partners of the insulin signaling pathway with an FDR 0.02 and regulating the resumption of oocyte meiosis (FDR, 0.01). PPP1CC is known for dephosphorylation of several regulatory proteins during cell division. During insulin signaling, the active form PPP1CC inactivates the calcium/calmodulin-dependent protein kinases by dephosphorylation and promotes glucose metabolism. The interaction of insulin (INS) or insulin-like growth factor 1 (IGF1) with its receptor on the oocyte membrane triggers the activation of PRKACA. In turn, this promotes the early translation of maternal transcripts necessary for MAPK signaling and ubiquitin-mediated proteolysis during oocyte meiosis. The PPP1CC also activates the CDC25C, that initiates the transition from mitosis to meiosis-I by dephosphorylating CYCB2/B5 and CDC2 (McHughes et al. 2009) as required for the embryo pattern formation and morphogenesis (De Faria Poloni et al. 2011). In mammals, when the sperm penetrates the oocyte, a signal transduction mechanism is triggered by the PLCz1 cascade. CALM is one of the regulatory proteins that activate PTW/PP1, serine/threonine-protein phosphatase that ensures meiosis-II completion. It maintains chromatin structure during the transition from mitosis to interphase (Lee et al. 2010).
Angiogenesis in biliary tract cancer: targeting and therapeutic potential
Published in Expert Opinion on Investigational Drugs, 2021
Margherita Rimini, Andrea Casadei-Gardini
Finally, few genomic studies improved the knowledge about the neo-angiogenesis pathways in BTCs. Nakamura et al., through the analysis by whole-exome and transcriptome sequencing of 260 BTCs cases including iCCAs, eCCAs, and GBC, identified 32 significantly altered genes, including potentially targetable genetic alteration in 40% of cases. They found that FGFR2 fusion genes and isocitrate dehydrogenase (IDH)1/2 mutations characterized iCCA cases, gene fusions involving the Protein Kinase CAMP-Activated Catalytic Subunit alpha (PRKACA) or Protein Kinase CAMP-Activated Catalytic Subunit beta (PRKACB) occurred in eCCA cases, the KRAS mutations were characteristic of pCCA cases, and, finally, the inactivation of PTEN and TSC1 was frequently observed in GBC cases [36].