A. Molecular pathology

• 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 (...)

• protein domains
  21 April 2017

  Examples
  protein interaction domains
  Open References
  Oncodomains: A protein domain-centric framework for analyzing rare variants in tumor samples. 2017. doi:10.1371/journal.pcbi.1005428.

• retroelements
  21 April 2017

  References.
  Retroelement-guided protein diversification abounds in vast lineages of Bacteria and Archaea. 2017. http://www.nature.com/articles/nmicrobiol201745 http://www.nature.com/articles/nmicrobiol201745.epdf

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