A. Molecular pathology

• 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. *
  IHC
  neuroendocrine tumors SATB2 is a sensitive marker for lower gastrointestinal well-differentiated neuroendocrine tumors. (#26261600#)
  digestive tumors (...)

• 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

• age-associated DNA methylation changes
  5 May 2017

  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 2017

  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 2017

  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 2017

  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# (...)

• ZNF793
  25 April 2017

  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: (...)

• proteostasis
  21 April 2017

  The proteostasis network (PN) regulates protein synthesis, folding, transport, and degradation to maintain proteome integrity and limit the accumulation of protein aggregates, a hallmark of aging and degenerative diseases.
  Proteome integrity is maintained by the proteostasis network (PN), which consists of interconnected systems that regulate protein synthesis, folding, transport, and degradation in every cell.
  The functionality of this network declines during aging, thus compounding the (...)

• rare somatic variants
  21 April 2017

  Genome-wide sequencing studies have shown that individual malignancies contain many mutations that range from those commonly found in tumor genomes to rare somatic variants present only in a small fraction of lesions.
  Such rare somatic variants dominate the landscape of genomic mutations in cancer, yet efforts to correlate somatic mutations found in one or few individuals with functional roles have been largely unsuccessful.
  Traditional methods for identifying somatic variants that drive (...)

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