genetic alterations activating MAPK signaling
0.6% of metastati breast cancer harbor fusions (doi:10.1016/j.annonc.2020.04.008. ) Kinase fusions in breast cancers are extremely rare, and appear to be enriched in hormone-resistant, metastatic carcinomas and mutually exclusive with ESR1 mutations. Molecular testing at progression after endocrine therapy should include fusion testing, particularly in the absence of ESR1 hotspot alterations, in an effort to identify additional therapeutic (...)
Home > A. Molecular pathology
A. Molecular pathology
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kinase fusions
29 April -
RNAs
24 AprilSee also
RNA mRNA -
CpG island hypermethylation
17 AprilWKP
Definition : CpG island hypermethylation is an epigenetic control aberration that is important for gene inactivation in cancer cells. Hypermethylation of CpG islands has been described in almost every type of tumor.
Many important cellular pathways, such as DNA repair (hMLH1, for example), cell cycle (p14ARF), apoptosis (DAPK), cell adherence (CDH1, CDH13), are inactivated by this epigenetic lesion.
Hypermethylation is linked to methyl-binding proteins, DNA methyltransferases and (...) -
ISM1
16 Aprilisthmin-1 GeneCard UniProt Entrez
Tumoral expression
cutaneous Merckel carcinoma
neuroendocrine tumors -
gaseous signaling molecules
16 AprilWKP
Definition : Gaseous signaling molecules are gaseous molecules that are either synthesised internally (endogenously) in the organism, tissue or cell or are received by the organism, tissue or cell from outside (say, from the atmosphere or hydrosphere, as in the case of oxygen) and that are used to transmit chemical signals which induce certain physiological or biochemical changes in the organism, tissue or cell.
The term is applied to, for example, oxygen, carbon dioxide, nitric (...) -
HSD3B1
21 FebruaryWKP
Definition: HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1.
While it can carry out the same function as HSD3B2, it localizes primarily to different tissues, such as the placenta and nonsteroidogenic tissues.
Its requirement for the production of progesterone by the placenta, which has a vital role in pregnancy, may be one reason why no (...) -
contractile proteins
9 JanuaryContractile proteins in phagocytosis
By applying force to actin filaments, the plasma membrane, and intracellular proteins and organelles, myosins can generate contractility, directly regulate actin assembly to ensure proper phagocytic internalization, and translocate phagosomes or other cargo to appropriate cellular locations. Altering the actomyosin cytoskeleton affects phagocytic behavior.
Paywall references
Squeezing in a Meal: Myosin Functions in Phagocytosis. Barger SR, Gauthier (...) -
PLIN2
14 December 2019WKP
Definition : Adipose differentiation-related protein, also known as perilipin 2 , ADRP or adipophilin, is a protein which belongs from PAT family of cytoplasmic lipid droplet (CLD) binding protein.
In humans it is encoded by the ADFP gene. This protein surrounds the lipid droplet along with phospholipids and are involved in assisting the storage of neutral lipids within the lipid droplets.
Images
adipophilin IHC in sebaceous carcinoma (...) -
FOSs
12 December 2019The Fos gene family ( FOSs ) consists of 4 members: c-Fos , FOSB , FOSL1 , and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation.
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FOSL1
12 December 2019WKP
The Fos gene family ( FOSs ) consists of 4 members: c-Fos, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation.
