Article
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
Human mutation - 1 Dec 2017
Ghosh Somadri, Huber Céline, Siour Quentin, Sousa Sérgio B, Wright Michael, Cormier-Daire Valérie, Erneux Christophe
Abstract excerpt
The SH2 domain containing inositol phosphatase 2 (SHIP2) dephosphorylates PI(3,4,5)P3 to generate PI(3,4)P2, a lipid involved in the control of cell migration and adhesion. The INPPL1 gene that encodes SHIP2 has been found to be mutated in several cases of opsismodysplasia (OPS), a rare autosomal recessive chondrodysplasia characterized by growth plate defects and delayed bone maturation. Reported mutations often...
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