Article
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.
Human molecular genetics - 15 Feb 2006
Oishi Kimihiko, Gaengel Konstantin, Krishnamoorthy Srinivasan, Kamiya Kenichi, Kim In-Kyong, Ying Huiwen, Weber Ursula, Perkins Lizabeth A, Tartaglia Marco, Mlodzik Marek, Pick Leslie, Gelb Bruce D
Abstract excerpt
Mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP-2, causes Noonan syndrome (NS), an autosomal dominant disorder with pleomorphic developmental abnormalities. Certain germline and somatic PTPN11 mutations cause leukemias. Mutations have gain-of-function (GOF) effects with the commonest NS allele, N308D, being weaker than the leukemia-causing mutations. To study the effects of...
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