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| selective deletion of Shp2, in striated muscle results in severe dilated cardiomyopathy in mice, leading to heart failure and premature mortality  | |
LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development; transgenic Drosophila expressing the two commonest LS mutations in csw under control of UAS/GAL4 system, ubiquitous expression of those LS-causing alleles resulted in a gain-of-function phenotype, which was similar to that of the Noonan transgenic flies |
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decreased Igf1 levels in Ptpn11-mutated mice suggesting an involvement of Shp2 in GH signaling |
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germline mutation Shp2D61G in animal models enhances hematopoietic stem cell activity and induces myeloproliferative disease |