Search Results for kinase

...) with irregular/grooved nuclei and a prominent background inflammatory infiltrate usually rich in eosinophils ( fig. 7-17 ). Recent molecular evidence points to mitogen-activated protein kinase (MAPK) pathway alterations such as BRAF V600E mutation (approximately 50 percent of cases) and MAP2K1...

... half the cases of RDD (including some limited sinonasal forms) harbor mutations in the mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/ERK) pathway, e.g., MAP2K1 or KRAS ( 21 , 22 ). Unlike other histiocytoses, RDD is usually negative for BRAF...

... ). These pathways involve primarily bone morphogenic protein signaling as well as signaling pathways for Wnt, Notch, sonic hedgehog (SHH), fibroblast growth factor (FGF), and mitogen-activated protein kinase pathway (MAPK) ( 13 – 19 ). Significant driver mutations have been reported for ameloblastoma affecting...

... is curative. In myofibromatosis, the prognosis is poor when there is multifocal involvement of visceral organs. The presence of PDGFRB activating mutations in myofibromatosis provides a basis for targeted therapy since most PDGFRB mutations are sensitive to tyrosine kinase inhibitors ( 170...

... pseudohypoxia (cluster 1 disease) or kinase signaling pathways (cluster 2 disease) ( 652 , 914 ). Mutations associated with Krebs cycle (i.e., SDHx, FH) and hypoxia-inducible factor (HIF) pathway (i.e., VHL, HIF2A/EPAS1), part of cluster 1 disease, show stabilization of HIF-α proteins...

... dehydrogenase (SDH) complex, and cluster 2, characterized by kinase signaling and represented mostly by mutations of RET and NF1 ( 6 ). Additional hereditary susceptibility genes including EPAS1 (HIF2A) and its regulators were subsequently discovered and assigned to cluster 1...

... adenyl cyclase through the Gs protein alpha-subunit (GNAS), and leading to cAMP production. CAMP binding to the regulatory subunit of protein kinase A releases its catalytic subunit, and allows phosphorylation of downstream targets ( 8 ), which in turn results in cortisol synthesis and secretion...

..., of sporadic aldosterone-producing adenomas lacking mutations in other known genetic drivers ( 77 , 78 ). Aldosterone-producing adenomas may also harbor mutations that are more common in other types of adenoma. Mutations in PRKACA (encoding protein kinase cAMP-activated catalytic subunit a) have been...

... ). This gene encodes the regulatory subunit 1A of protein kinase A, a central component of the cAMP signaling pathway. Most mutations are base substitutions, small deletions, and insertions, and most are unique, with a few identified in more than three unrelated pedigrees ( 14 ). Since loss of the unmutated...

... cancer-related mortality, according to Surveillance, Epidemiology, and End Result (SEER) data ( 22 ). Familial cases exist in NBL but are rare (1 to 2 percent of cases) ( 23 ). There are two genes that predispose for familial NBL: anaplastic lymphoma kinase (ALK), in which germline gain...

... mosaicism may complicate molecular assessment in some cases ( 50 , 55 ). Functional consequences of the epigenetic and genetic alterations that lead to overgrowth include overexpression of IGF2 and/or downregulation of the cyclin-dependent kinase inhibitor 1C (CDKN1C) gene ( 50 ), which encodes...

... pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits . J Clin Endocrinol Metab   2009 ; 94 : 2406 - 13 . 36. Courcoutsakis   NA , Tatsi   C , Patronas   NJ , Lee   CC , Prassopoulos   PK...

... with mutations of RET, NF1, and related genes involved in kinase signaling (TMEM127, MAX, KIF1Bβ) comprise “cluster 2.” This is associated with both adrenergic and nor-adrenergic secretion, resulting in elevations of metanephrine and normetanephrine. “Cluster 3” disease is attributed to somatic...

... paraffin-embedded) cardiac tissue. Other nonspecific laboratory abnormalities associated with viral myocarditis include elevated serum troponin, creatinine kinase (CK), blood leukocyte count, erythrocyte sedimentation rate (ESR), and C-reactive protein. Individuals with myocarditis may also have a variety...

... ( fig. 23-1 ) ( 2 ). The increase from soil to host body temperature activates numerous fungal genes, including DRK1 (dimorphism regulating kinase 1) and those in the RYP family (required for yeast phase growth), thus facilitating conversion of the microconidia to yeasts. The organisms...

... (without angioinvasion), and rare fungal elements. These pathways, which lead to cytokine production and are instrumental in the destruction of conidia, include dectin-1/Syk/CARD9, caspase 1 and 8, Bruton tyrosine kinase (BTK), and the NADPH burst. If any of these pathways is deficient...

... is a metalloprotease that inactivates the mitogen-activated protein kinase (MAPK) pathway. The MAPK pathway produces oxygen radicals, which lead to necrosis of endothelial cells and release of tumor necrosis factor alpha (TNFα), interleukins, and cytokines that result in shock and subsequent death of the host...

... typically present. There is usually associated hypoalbuminemia and elevation of serum creatinine, liver enzymes, creatinine kinase, lactic dehydrogenase, and amylase. The clinical differential diagnosis of hantavirus infection is extremely broad due to its diverse disease manifestations. Included...

... transcription factor and other proteins. This allows cell proliferation by activation of cyclins A and E. E7 also blocks two cyclin-dependent kinase inhibitors (p27 and WAF1) and has other complex actions on other transcription factors. All the interactions of E6 and E7 result in unchecked cell proliferation...

..., ROS1 Molecular Genetic Aberrations Molecular Genetic Aberrations  Conventional driver mutations (BRAF, NRAS, NF1)  HRAS gains/mutation  Mutation burden variable; may be high  Kinase fusions  Segmental copy number aberrations  Mutation burden usually low  TERT...