Search Results - Sara Reynhout
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Physiologic functions of PP2A: Lessons from genetically modified mice by Sara Reynhout, Veerle Janssens
Published 2018Revisão -
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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders by Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers
Published 2018Artigo
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Biology
Gene
Genetics
Protein phosphatase 2
Cell biology
Phenotype
Phosphatase
Phosphorylation
Protein subunit
Brain development
Brain function
Computational biology
Dephosphorylation
Disease
Frameshift mutation
Function (biology)
Genetically modified mouse
Haploinsufficiency
Loss function
Medicine
Missense mutation
Mutation
Neurodevelopmental disorder
Neuroscience
Nonsense mutation
Pathology
Transgene