A. Molecular pathology

• FN1
  11 July 2003

  fibronectin
  Definition: Fibronectin, coded by the gene FN1 , is a large protein that binds to many molecules, such as collagen, fibrin, proteoglycans, and cell-surface receptors.
  Fibronectin consists of two glycoprotein chains, held together by disulfide bonds.
  Fibronectin mRNA has two splice forms, giving rise to tissue fibronectin and plasma fibronectin. The tissue fibronectin forms fibrillar aggregates at wound healing sites.
  Functional synopsis
  cell adhesion
  signaling (...)

• extracellular matrix remodeling
  11 July 2003

  References
  Stamenkovic I. Extracellular matrix remodelling: the role of matrix metalloproteinases. J Pathol. 2003 Jul;200(4):448-64. PMID: #12845612#

• PS integrins
  11 July 2003
• integrins
  11 July 2003

  ITGs
  Definition: Integrins are cell-surface receptors that mediate and coordinate cellular responses to the extracellular matrix.
  Integrins are transmembrane heterodimeric glycoproteins, made up of α chains (ITGAs) and β chains (ITGBs), that are expressed on many cell types and bind to ligands on endothelial cells, other leukocytes, and the extracellular matrix.
  Examples
  α4β7 integrin
  The β2 integrins LFA-1 and Mac-1 (CD11a/CD18 and CD11b/CD18) bind to ICAM1, and the β1 integrins (such as (...)

• CTNNB1
  11 July 2003

  CTNNB1, cadherin-associated protein, beta-catenin PO WP
  Definition: Protein encoded by CTNNB1 gene, coordinates cell–cell adhesion and gene transcription.
  Function
  Part of Wnt signalling pathway, highly conserved pathway with critical role in embryologic development (Dev Cell 2009;17:9), carcinogenesis and epithelial-to-mesenchymal transition.
  Upon Wnt activation, β-catenin is translocated from membrane (where it interacts with E-cadherin) to cytoplasm and nucleus, where it (...)

• WNT signaling pathway
  10 July 2003

  Wnt signaling, Wnt/beta-catenin signaling, Wnt/beta-catenin pathway,

• cellular interactions
  10 July 2003

  Types
  immune-cell interactions
  Pathology of cellular interactions
  References
  Friedl P, Storim J. Diversity in immune-cell interactions: states and functions of the immunological synapse. Trends Cell Biol. 2004 Oct;14(10):557-67. PMID: #15450978#

• SOXs
  4 July 2003

  The SOXs are a family of high-mobility group (HMG) domain proteins. SOXs constitute a family of transcription factors involved in differentiation.
  Members SOX1 SOX2 SOX3 SOX4 SOX5 SOX6 SOX7 SOX8 SOX9 SOX10 SOX11 SOX12 SOX13 SOX14 SOX15 SOX16 SOX17 SOX18
  Pathology
  SOXs genes germ-line mutations SOX2 mutations : microphtalmia, anophtalmia SOX3 mutations (Xq26-q27) : X-linked mental retardation with growth hormone deficiency SOX18 mutations : recessive and dominant forms of (...)

• SOX9
  4 July 2003

  SRY-related high-mobility group (HMG) box 9; SRY-BOX 9

• prestin
  3 July 2003

  Cochlear motor protein

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