A. Molecular pathology

• DKK1
  23 January 2017

  WKP
  Definition: Dickkopf-related protein 1 is a protein that in humans is encoded by the DKK1 gene. This gene encodes a protein that is a member of the dickkopf DKKs family.
  It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the Wnt signaling pathway.
  There are at least 2 families of secreted inhibitors of WNT signaling:
  the secreted frizzled-related protein family (as SFRP1 ; MIM.604156 ), all of which have an (...)

• MMP9
  23 January 2017

  |WKP
  Definition: Matrix metallopeptidase 9 (MMP-9), also known as 92 kDa type IV collagenase, 92 kDa gelatinase or gelatinase B (GELB), is a matrixin, a class of enzymes that belong to the zinc-metalloproteinases family involved in the degradation of the extracellular matrix.
  In humans, the MMP9 gene encodes for a signal peptide, a propeptide, a catalytic domain with inserted three repeats of fibronectin type II domain followed by a C-terminal hemopexin-like domain.
  Pathology
  MMP9 (...)

• TP53RK
  18 January 2017

  p53-related protein kinase (TP53RK, also known as PRPK) WKP
  Definition: TP53-regulating kinase, also known as PRPK is an enzyme that in humans is encoded by the TP53RK gene. This protein is a serine/threonine protein kinase that phosphorylates p53 at Ser15.
  PRPK is part of the KEOPS/EKC complex, which participates in transcription control, telomere regulation and tRNA modification.
  p53-related protein kinase TP53RK is an upstream kinase which phosphorylates (Ser15) and mediates p53 (...)

• AFF1
  17 January 2017

  WKP
  Pathology
  AFF1-MLL gene fusion in B-cell acute lymphoblastic leukemia / B-cell ALL

• CREB3Ls
  16 January 2017

  Members
  CREB3L1
  CREB3L2

• TEADs
  16 January 2017

  Definition: The transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain.
  Members of the family in mammals are TEADs : TEAD1 , TEAD2 , TEAD3 , TEAD4 .
  See also
  TFs : transcription factors

• TEAD1
  16 January 2017

  WKP
  Definition: Transcriptional enhancer factor TEF-1 also known as TEA domain family member 1 (TEAD1) and transcription factor 13 (TCF-13) is a protein that in humans is encoded by the TEAD1 gene. TEAD1 was the first member of the TEADs family of transcription factors to be identified.
  Molecular biology
  Recurrent NCOA2 gene rearrangements in congenital/infantile-type spindle cell rhabdomyosarcoma (SRMS) (#23463663#) with SRF with TEAD1
  MYOD1 mutations in adult-type spindle cell (...)

• TGFBR3
  13 January 2017

  |WKP|
  Definition: Betaglycan also known as Transforming growth factor beta receptor III (TGFBR3), is a cell-surface chondroitin sulfate / heparan sulfate proteoglycan >300 kDa in molecular weight.
  Betaglycan binds to various members of the TGF-beta superfamily of ligands via its core protein, and bFGF via its heparan sulfate chains. It is not involved directly in TGF-beta signal transduction but by binding to various member of the TGF-beta superfamily at the cell surface it acts as a (...)

• MGEA5
  13 January 2017

  |WKP|
  Definition: Bifunctional protein NCOAT is a protein that in humans is encoded by the MGEA5 gene.
  Pathology
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in : myxoinflammatory fibroblastic sarcoma (#21717526#) hemosiderotic fibrolipomatous tumor (#21717526#) PHAT pleomorphic hyalinizing angiectatic tumor
  Open References
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous (...)

• EPC1
  13 January 2017

  WKP
  Pathology
  EPC1-PHF1 gen fusion in ossifying fibromyxoid tumor (#24285434#)
  Open references
  Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors—molecular characterization shows genetic overlap with endometrial stromal sarcoma. Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD. Genes Chromosomes Cancer. 2014 Feb;53(2):183-93. doi:10.1002/gcc.22132. PMID: #24285434# (...)

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