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WNT signaling pathway

Thursday 10 July 2003

WNT signalling has a key role in early embryonic patterning through the regulation of cell fate decisions, tissue polarity and cell movements.

Wnt signal transduction is crucial for maintaining the balance between proliferation and differentiation throughout embryogenesis and postnatal life.


- In the vertebrate embryo, the formation of the dorsal-ventral axis depends on the activity of the Wnt signaling pathway.

- In the nervous system, WNT signalling regulates neuronal connectivity by controlling axon pathfinding, axon remodelling, dendrite morphogenesis and synapse formation.



Pathology of the Wnt/beta-catenin pathway

- cancer predisposition

  • colonic cancer predisposition
    - mutations in AXIN2 predispose to colonic adenocarcinoma (15042511)

- developmental anomalies

- RSPO4 germline mutations in inherited anonychia and hyponychia congenita (MIM.206800) (17186469, 17041604)

  • Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toe-nails.
  • RSPO4 is a member of the recently described R-spondin family of secreted proteins that play a major role in activating the Wnt/ beta -catenin signaling pathway.


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