A. Molecular pathology

• ADAR2
  20 August

  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

  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

  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

  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

  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

  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

• age-associated DNA methylation changes
  5 May

  Open references
  Novel regional age-associated DNA methylation changes within human common disease-associated loci.
  Bell CG, Xia Y, Yuan W, Gao F, Ward K, Roos L, Mangino M, Hysi PG, Bell J, Wang J, Spector TD.
  Genome Biol. 2016 Sep 23;17(1):193.
  PMID: #27663977# Free

• disease-associated changes in DNA methylation
  5 May

  Disease-Associated Changes in DNA Methylation
  Open references
  A Bayesian Approach for Analysis of Whole-Genome Bisulfite Sequencing Data Identifies Disease-Associated Changes in DNA Methylation.
  Rackham OJ, Langley SR, Oates T, Vradi E, Harmston N, Srivastava PK, Behmoaras J, Dellaportas P, Bottolo L, Petretto E.
  Genetics. 2017 Apr;205(4):1443-1458. doi:10.1534/genetics.116.195008.
  PMID: #28213474# (...)

• P2X7R
  26 April

  WKP
  P2X purinoceptor 7 is a protein that in humans is encoded by the P2RX7 gene.
  The product of this gene belongs to the family of purinoceptors for ATP. Multiple alternatively spliced variants which would encode different isoforms have been identified although some fit nonsense-mediated decay criteria.
  The receptor is found in the central and peripheral nervous systems, in microglia, in macrophages, in uterine endometrium, and in the retina.
  The P2X7 receptor also serves as a pattern (...)

• B3GAT2
  25 April

  Open references
  Methylated B3GAT2 and ZNF793 Are Potential Detection Biomarkers for Barrett’s Esophagus. Yu M, O’Leary RM, Kaz AM, Morris SM, Carter KT, Chak A, Chandar A, Willis JE, Moinova HR, Markowitz SD, Brenner DE, Anandabapasathy S, Westerhoff M, Wong CJ, Shaheen NJ, Chen Y, Barnholtz-Sloan JS, Grady WM. Cancer Epidemiol Biomarkers Prev. 2015 Dec;24(12):1890-7. doi:10.1158/1055-9965.EPI-15-0370.
  PMID: #26545406# (...)

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