A. Molecular pathology

• ADRB1
  2 September 2019

  Pathology
  A mutation in ADRB1 leads to natural short sleep trait in humans
  Mice engineered with same mutation have similar short sleep behavior as humans
  Activity of dorsal pons ADRB1+ neurons associates with REM sleep and wakefulness
  Mutation increases the population activity of dorsal pons ADRB1+ neurons
  References
  A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors. 2019 (...)

• RBM10
  26 August 2019

  WKP
  Definition : RNA-binding protein 10 is a protein that in humans is encoded by the RBM10 gene.
  The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs.
  In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene (...)

• KAT6A
  20 August 2019

  Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.
  Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.
  Open references
  NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new (...)

• NEAT1
  20 August 2019

  Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.
  Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.
  Open references
  NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new (...)

• Arp2/3
  17 July 2019

  Arp2/3 complex WKP
  Definition : Arp2/3 complex is a seven-subunit protein complex that plays a major role in the regulation of the actin cytoskeleton. It is a major component of the actin cytoskeleton and is found in most actin cytoskeleton-containing eukaryotic cells.
  Two of its subunits, the Actin-Related Proteins ARP2 and ARP3, closely resemble the structure of monomeric actin and serve as nucleation sites for new actin filaments.
  The complex binds to the sides of existing (...)

• GREB1
  10 July 2019

  WKP
  Definition : Growth regulation by estrogen in breast cancer 1 is a protein that in humans is encoded by the GREB1 gene. This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
  Pathology
  GREB1-rearranged uterine sarcomas with variable (...)

• IL7
  13 June 2019

  Definition : Interleukin 7 (IL-7) is a protein that in humans is encoded by the IL7 gene.
  IL-7 is a hematopoietic growth factor secreted by stromal cells in the bone marrow and thymus. It is also produced by keratinocytes , dendritic cells , hepatocytes , neurons , and epithelial cells , but is not produced by normal lymphocytes.

• KITLG
  13 June 2019

  SCF KITLG
  Definition : Stem cell factor (also known as SCF, KIT-ligand, KL, or steel factor) is a cytokine that binds to the c-KIT receptor (CD117). SCF can exist both as a transmembrane protein and a soluble protein. This cytokine plays an important role in hematopoiesis (formation of blood cells), spermatogenesis, and melanogenesis.

• GNA11
  13 June 2019

  GNA11
  Guanine nucleotide-binding protein subunit alpha-11 is a protein that in humans is encoded by the GNA11 gene. Together with GNAQ (its paralogue), it functions as a Gq alpha subunit.
  Pathology
  GNA11 Mutation in Cutaneous Origin Melanoma (#26825879#)
  Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. (#26778290#)
  High frequency of GNA14 , GNAQ , and GNA11 mutations in cherry hemangioma: a (...)

• GNA14
  13 June 2019

  See also
  G proteins

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