A. Molecular pathology

• MEIS1
  6 September

  WKP
  Definition : Homeobox protein Meis1 is a protein that in humans is encoded by the MEIS1 gene.
  Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE (’three amino acid loop extension’) family of homeodomain-containing proteins.
  Pathology
  Novel MEIS1-NCOA2 gene fusions define a (...)

• FUCA1
  21 August

  WKP
  Definition: FUCA1 / Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene. Alpha-Fucosidase is an enzyme that breaks down fucose.
  Pathology
  A fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues.
  Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial (...)

• TRIM27
  21 August

  WKP
  Definition: TRIM27 / zinc finger protein (ZNFs) RFP is a protein that in humans is encoded by the TRIM27 gene.
  This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation (...)

• NCOA4
  21 August

  WKP
  NCOA4 / Nuclear receptor coactivator 4 is a protein that in humans is encoded by the NCOA4 gene.
  It plays an important role in ferritinophagy, acting as a cargo receptor, binding to the ferritin heavy chain and latching on to ATG8 on the surface of the autophagosome.
  Pathology
  Molecular profiling of salivary gland intraductal carcinoma revealed a subset of tumors harboring NCOA4-RET and novel TRIM27-RET fusions. (...)

• CSTs
  24 July

  cystatins WKP
  Definition: The cystatins are a family of cysteine protease inhibitors which share a sequence homology and a common tertiary structure of an alpha helix lying on top of an anti-parallel beta sheet. The family is subdivided as described below.
  Cystatins show similarity to fetuins, kininogens, histidine-rich glycoproteins and cystatin-related proteins.
  Cystatins mainly inhibit peptidase enzymes (another term for proteases) belonging to peptidase families C1 (papain (...)

• FRS2
  13 July

  WKP
  Definition: Fibroblast growth factor receptor substrate 2 is a protein that in humans is encoded by the FRS2 gene.
  Pathology
  FRS2 is overexpressed and amplified in several cancer types, including prostate cancer.
  Low-grade osteosarcoma (LGOS) encompasses low-grade central osteosarcoma (LGCOS) and parosteal osteosarcoma (POS).
  LGOSs are characterized by a supernumerary ring and giant rod chromosomes containing the 12q13-15 amplicon.
  The fibroblast growth factor receptor substrate (...)

• KL
  14 May

  Klotho WKP
  Definition: Klotho is an enzyme that in humans is encoded by the KL gene.
  The KL gene encodes a type-I membrane protein that is related to β-glucuronidases.
  Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF.
  Also, mutations within the KL protein have been associated with ageing, bone (...)

• MME
  8 May

  CD10 WKP
  See also : CD10

• oncohistones
  8 May

  Definition: Recurrent mutations in histone genes can cause pediatric cancers. These mutations occur at high frequency and lead to the expression of mutant histones that exhibit oncogenic features. Thus, they are termed oncohistones.
  Mutations have been found in the genes encoding histone H3 and its variants.
  The expression of the oncohistones affects the global chromatin landscape.
  Paywall references
  Oncohistones: drivers of pediatric cancers. Mohammad F, Helin K. Genes Dev. 2017 Dec (...)

• advanced glycation end-products
  7 May

  AGEs; advanced glycation end-product
  Definition: Advanced glycation end products (AGEs) are proteins or lipids that become glycated as a result of exposure to sugars, or glycation.
  Pathology
  Advanced glycation end products (AGEs) can be a factor in aging and in the development or worsening of many degenerative diseases, such as diabetes, atherosclerosis, chronic kidney disease, and Alzheimer’s disease.
  See also (...)

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