A. Molecular pathology

• cathepsin-K
  7 January

  CTSK WKP PO
  Definition : Cathepsin K, abbreviated CTSK, is an enzyme that in humans is encoded by the CTSK gene. The protein encoded by this gene is a lysosomal cysteine protease involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is expressed predominantly in osteoclasts.
  Pathology
  Germline mutations cause sclerosing osteochondrodysplasia pycnodysostosis, a rare autosomal recessive skeletal dysplasia characterized by (...)

• MUC5B
  13 November 2020

  Pathology
  MUC5B anomalies in pulmonary fibrosis / peripheral lobular fibrosis
  Open references
  Pathogenesis of idiopathic pulmonary fibrosis: review of recent findings.2014. PMID: #25165568#
  Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis. 2013. PMID: #23268535#
  The epithelium in idiopathic pulmonary fibrosis: breaking the barrier. 2014. PMID: #24454287#
  Reduced mucociliary clearance in old mice is associated with a decrease in Muc5b mucin. 2016. (...)

• PRKDs
  28 October 2020

  Definition : Serine/threonine-protein kinase Ds are enzymes that in humans is encoded by the PRKDs genes.
  Members of the protein kinase D ( PKDs ) family function in many extracellular receptor-mediated signal transduction pathways.
  Pathology
  polymorphous adenocarcinoma of the salivary gland harbor genetic alterations affecting PRKD genes. PMID: #31492931#
  The PRKD1 E710D hotspot mutation is highly specific in separating polymorphous adenocarcinoma of the palate from adenoid cystic (...)

• PRKD1
  28 October 2020

  WKP
  Definition : Serine/threonine-protein kinase D1 is an enzyme that in humans is encoded by the PRKD1 gene.
  Members of the protein kinase D ( PKDs ) family function in many extracellular receptor-mediated signal transduction pathways.
  ThePRKD1 / PRKCM gene encodes a cytosolic serine-threonine kinase that binds to the trans-Golgi network and regulates the fission of transport carriers specifically destined to the cell surface.
  Pathology
  polymorphous adenocarcinoma of the (...)

• MUC3
  28 October 2020

  ( MUC3A and MUC3B ) PO
  See also
  MUCs

• G-quadruplex
  18 August 2020

  G4 ; G-quadruplex structures WKP
  Definition: G-quadruplex (G4) structural motifs have been linked to transcription, replication and genome instability and are implicated in cancer and other diseases.

• kinase fusions
  29 April 2020

  genetic alterations activating MAPK signaling
  0.6% of metastati breast cancer harbor fusions (doi:10.1016/j.annonc.2020.04.008. ) Kinase fusions in breast cancers are extremely rare, and appear to be enriched in hormone-resistant, metastatic carcinomas and mutually exclusive with ESR1 mutations. Molecular testing at progression after endocrine therapy should include fusion testing, particularly in the absence of ESR1 hotspot alterations, in an effort to identify additional therapeutic (...)

• RNAs
  24 April 2020

  See also
  RNA mRNA

• CpG island hypermethylation
  17 April 2020

  WKP
  Definition : CpG island hypermethylation is an epigenetic control aberration that is important for gene inactivation in cancer cells. Hypermethylation of CpG islands has been described in almost every type of tumor.
  Many important cellular pathways, such as DNA repair (hMLH1, for example), cell cycle (p14ARF), apoptosis (DAPK), cell adherence (CDH1, CDH13), are inactivated by this epigenetic lesion.
  Hypermethylation is linked to methyl-binding proteins, DNA methyltransferases and (...)

• ISM1
  16 April 2020

  isthmin-1 GeneCard UniProt Entrez
  Tumoral expression
  cutaneous Merckel carcinoma
  neuroendocrine tumors

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