A. Molecular pathology

• proteostasis
  21 April

  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

  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

  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

  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

• ADIPOR2
  25 March

  |WKP|
  Definition: Adiponectin is a protein which in humans is encoded by the ADIPOQ gene. It is involved in regulating glucose levels as well as fatty acid breakdown.
  See also
  ADIPOR1
  ADIPOR2
  Paywall references
  Structural biology: Receptors grease the metabolic wheels. doi:10.1038/nature21900.

• ADIPOQ
  25 March

  adiponectin, C1Q and collagen domain containing
  |WKP|
  Definition: Adiponectin is a protein which in humans is encoded by the ADIPOQ gene. It is involved in regulating glucose levels as well as fatty acid breakdown.
  See also
  ADIPOR1
  ADIPOR2
  Paywall references
  Structural biology: Receptors grease the metabolic wheels. doi:10.1038/nature21900.

• CREBs
  16 March

  Examples
  ATF1
  CREB1

• CBL
  8 March

  WKP
  Pathology
  Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. (#19387008#)
  Open references
  Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C, Kreil S, Jones A, Score J, Metzgeroth G, Oscier D, Hall A, Brandts C, Serve H, Reiter A, Chase AJ, Cross NC. Blood. 2009 Jun 11;113(24):6182-92. (...)

• ASXL1
  8 March

  WKP
  Definition: Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.
  Function
  In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo.
  The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci.
  The protein is thought to disrupt chromatin in (...)

• DUSP22
  6 March

  Dual specificity protein phosphatase 22 WKP
  Definition: Dual specificity protein phosphatase 22 is an enzyme that in humans is encoded by the DUSP22 gene.
  Interactions
  DUSP22 has been shown to interact with MAPK1 and MAPK8.
  Pathology
  Indolent ALK-Negative Anaplastic Large Cell Lymphoma (ALCL) with DUSP22 Rearrangement (#28042680#)
  primary cutaneous Anaplastic Large Cell Lymphoma (ALCL) with DUSP22 Rearrangement (#28042680#)
  See also
  IRF4 IRF4-rearranged ALCL
  Open (...)

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