A. Molecular pathology

• HSD3B1
  21 February

  WKP
  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 January

  Contractile 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 2019

  WKP
  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 2019

  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.

• FOSL1
  12 December 2019

  WKP
  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.

• MAP3K8
  12 November 2019

  Pathology
  melanocytic tumors with MAP3K8 fusions https://www.nature.com/articles/s41379-019-0384-8
  See also
  MAP3Ks

• genetic recombination
  11 November 2019

  WKP
  Genetic recombination (also known as genetic reshuffling) is the exchange of genetic material between different organisms which leads to production of offspring with combinations of traits that differ from those found in either parent.
  In eukaryotes, genetic recombination during meiosis can lead to a novel set of genetic information that can be passed on from the parents to the offspring. Most recombination is naturally (...)

• mutational signatures
  10 November 2019

  WKP
  Examples : ultraviolet mutational signature
  Definition : Mutational signatures are characteristic combinations of mutation types arising from specific mutagenesis processes such as DNA replication infidelity, exogenous and endogenous genotoxins exposures, defective DNA repair pathways and DNA enzymatic editing.
  Deciphering mutational signatures in cancer provides insight into the biological mechanisms involved in carcinogenesis and normal somatic mutagenesis.
  Mutational signatures (...)

• co-amplification
  10 November 2019

  genic co-amplification; gene co-amplification in tumors
  Examples
  MDM2-CDK4 co-amplification in liposarcomas
  TFEB-VEGFA co-amplification in renal cell carcinoma

• PTPRZ1
  8 November 2019

  WKP
  Pathology
  PTPRZ1-ETV1 fusion in gliomas (#31381204#)

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