A. Molecular pathology

• DUSP22
  6 March

  Dual specificity protein phosphatase 22 WKP
  Definition: Dual specificity protein phosphatase 22 is an enzyme that in humans is encoded by the DUSP22 gene.
  Interactions
  DUSP22 has been shown to interact with MAPK1 and MAPK8.
  Pathology
  Indolent ALK-Negative Anaplastic Large Cell Lymphoma (ALCL) with DUSP22 Rearrangement (#28042680#)
  primary cutaneous Anaplastic Large Cell Lymphoma (ALCL) with DUSP22 Rearrangement (#28042680#)
  See also
  IRF4 IRF4-rearranged ALCL
  Open (...)

• H3K27me3
  6 March

  |WKP|
  Definition: H3K27me3 is the trimethylated lysine residue at position 27 in the protein histone H3. H3K27me3 is known as a repressive mark because of its association with repression of gene expression.
  EZH2 protein of polycomb repressive complex 2 (PRC2) transfers the methyl group to H3K27 and UTX in human removed the trimethylation in human.
  Images
  H3K27me3 lost in majority of MPNST, retained in synovial sarcoma https://twitter.com/JMGardnerMD/status/867325504159985664 (...)

• CYLD
  3 March

  WKP
  Definition: CYLD, is a human gene encoding a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme.
  Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
  Mutations in this gene have been associated with cylindromatosis , multiple familial trichoepithelioma , and Brooke-Spiegler syndrome.
  See also
  cylindroma
  turban (...)

• mutational allelic frequency
  2 March

  MAF
  Tumors
  in pancreatic adenocarcinoma

• PRMT1
  2 March

  |WKP|
  Protein arginine N-methyltransferase 1 is an enzyme that in humans is encoded by the PRMT1 gene.
  PRMT1 ( protein arginine methyltransferase 1 ) is a novel epigenetic vulnerability in KRAS/p53 mutant PDAC primary patient models. http://www.abstractsonline.com/pp8/#!/4292/presentation/8466
  References
  Identification of protein arginine methyltransferase 1 as novel epigenetic vulnerability in KRAS/p53 mutant PDAC primary patient models. (...)

• NLRP3
  28 February

  NALP3 WKP
  NACH T, LRR and PYD domains-containing protein 3 (NALP3 ) also known by cryopyrin is a protein that in humans is encoded by the NLRP3 gene[3] located on the long arm of chromosome 1.[4]
  NALP3 is expressed predominantly in macrophages and as a component of the inflammasome, detects products of damaged cells such as extracellular ATP and crystalline uric acid.
  Activated NALP3 in turn triggers an immune response. Mutations in the NLRP3 gene are associated with a number of (...)

• TCEB1
  28 February

  Definition: Transcription elongation factor B polypeptide 1 is a protein that in humans is encoded by the TCEB1 gene.
  This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units.
  Elongin A functions as the transcriptionally active component of the SIII (...)

• SAMHD1
  22 February

  AGS5; Aicardi-Goutieres syndrome 5
  Pathology
  SAMHD1 is a biomarker for cytarabine response and a therapeutic target in acute myeloid leukemia (AML)
  References
  SAMHD1 is a biomarker for cytarabine response and a therapeutic target in acute myeloid leukemia. 2017. http://go.nature.com/2lLrvAk

• NUTM2A
  22 February

  Pathology
  CIC-NUTM2A fusion gene in small round cell sarcoma https://twitter.com/PathologyTweet/status/834414989641383938
  See also
  NUT

• IGF2BP3
  17 February

  Pathology
  THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid cancer. ( #28193878# )
  most IGF3BP3-THADA positive thyroid neoplasms are well circumscribed and have subtle nuclear alterations. https://twitter.com/chioseasi/status/831325327729258497 https://twitter.com/chioseasi/status/831324383645986821 https://twitter.com/chioseasi/status/831324780615888896
  References
  THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid (...)

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