A. Molecular pathology

• GIT2
  4 December 2017

  Pathology
  BRAF-GIT2 fusion gene in pilocytic astrocytoma
  Open references
  A novel GIT2-BRAF fusion in pilocytic astrocytoma.
  Helgager J, Lidov HG, Mahadevan NR, Kieran MW, Ligon KL, Alexandrescu S.
  Diagn Pathol. 2017 Nov 15;12(1):82. doi:10.1186/s13000-017-0669-5.
  PMID: #29141672# Free

• mutant TP53
  20 November 2017

  See also : TP53
  References
  More targets, more pathways and more clues for mutant p53.
  Garritano S, Inga A, Gemignani F, Landi S.
  Oncogenesis. 2013 Jul 1;2:e54. doi:10.1038/oncsis.2013.15.
  PMID: #23817466# Free

• bHLH-PAS
  20 November 2017

  bHLH-PAS
  See also
  ARNT2

• ARNT2
  20 November 2017

  WKP
  Definition: Aryl hydrocarbon receptor nuclear translocator 2 is a protein that in humans is encoded by the ARNT2 gene.
  This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors.
  The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli.
  Under (...)

• ADAR2
  20 August 2017

  Pathology
  Metabolomic and Lipidomic Profiling Identifies The Role of the RNA Editing Pathway in Endometrial Carcinogenesis. ADAR2 is overexpressed in EC and that the increase in expression positively correlates with the aggressiveness of the tumor. Furthermore, silencing of ADAR2 in three EC cell lines resulted in a decreased proliferation rate, increased apoptosis, and reduced migration capabilities in vitro. ADAR2 functions as an oncogene in endometrial carcinogenesis and could be a (...)

• NADPH
  8 August 2017

  WKP
  See also : NADH
  Definition: Nicotinamide adenine dinucleotide phosphate, abbreviated NADP+ or, in older notation, TPN (triphosphopyridine nucleotide), is a cofactor used in anabolic reactions, such as lipid and nucleic acid synthesis, which require NADPH as a reducing agent.
  NADPH is the reduced form of NADP+. NADP+ differs from NAD+ in the presence of an additional phosphate group on the 2’ position of the ribose ring that carries the adenine moiety.
  The major source of NADPH in (...)

• SUZ12
  25 July 2017

  WKP
  Images
  LOW-GRADE ENDOMETRIAL STROMAL SARCOMA. NGS: JAZF1-SUZ12. NB: permeation of myometrium; whorls of bland spindle cells; prominent arterioles. https://twitter.com/histiocytosisX/status/888838034518671360

• PDCD1LG2
  19 June 2017

  PD-L2; B7-DC; PDL2 ; CD273 WKP
  PD-L2 (or Programmed cell death 1 ligand 2) is a protein that in humans is encoded by the PDCD1LG2 gene. PDCD1LG2 has also been designated as CD273 (cluster of differentiation 273).
  See also
  immune checkpois
  PD-1 and PD-L1
  Links
  http://ecancer.org/news/11795-tumour-pd-l2-expression-may-predict-patient-response-to-anti-pd-1-immunotherapy.php
  Open references
  The PD1:PD-L1/2 Pathway from Discovery to Clinical Implementation.
  Bardhan K, (...)

• SATB2
  15 June 2017

  WKP
  Definition: Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein that in humans is encoded by the SATB2 gene.
  SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling. *
  Pathology
  SATB2 has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome.
  SATB2 was found to be disrupted (...)

• disease-causing chromosomal regions
  5 May 2017

  Open references
  Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.
  Marras C, Lohmann K, Lang A, Klein C.
  Neurology. 2012 Mar 27;78(13):1016-24. doi:10.1212/WNL.0b013e31824d58ab.
  PMID: #22454269# Free

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