Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

By 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.  

Human Molecular Genetics, Vol. 15, Iss. 4, 2006-02 ,pp. : 543-553

Oxford University Press

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Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

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Human Molecular Genetics, Vol. 18, Iss. 1, 2009-01 ,pp. : 193-201

Oxford University Press

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Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

By Clark Alice R.   Sawyer Gregory M.   Robertson Stephen P.   Sutherland-Smith Andrew J.  

Human Molecular Genetics, Vol. 18, Iss. 24, 2009-12 ,pp. : 4791-4800

Oxford University Press

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ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism

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Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 1-9

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A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model

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Human Molecular Genetics, Vol. 21, Iss. 4, 2012-02 ,pp. : 841-851

Oxford University Press

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