Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.

Kraft, Michael; Cirstea, Ion Cristian; Voss, Anne Kathrin; Thomas, Tim; Goehring, Ina; Sheikh, Bilal N; Gordon, Lavinia; Scott, Hamish; Smyth, Gordon K; Ahmadian, Mohammad Reza; Trautmann, Udo; Zenker, Martin; Tartaglia, Marco; Ekici, Arif; Reis, André; Dörr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian Thomas

Kraft, Michael; Cirstea, Ion Cristian; Voss, Anne Kathrin; Thomas, Tim; Goehring, Ina; Sheikh, Bilal N; Gordon, Lavinia; Scott, Hamish; Smyth, Gordon K; Ahmadian, Mohammad Reza; Trautmann, Udo; Zenker, Martin; Tartaglia, Marco; Ekici, Arif; Reis, André; Dörr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian Thomas.

Affiliation

Kraft M; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

J Clin Invest ; 121(9): 3479-91, 2011 Sep.

Article in En | MEDLINE | ID: mdl-21804188

Subject(s)

Histone Acetyltransferases/genetics; Histone Acetyltransferases/metabolism; MAP Kinase Signaling System/physiology; Noonan Syndrome/genetics; Animals; Child; Chromosome Mapping; DNA Mutational Analysis; Epigenesis, Genetic; Gene Knockdown Techniques; Haploinsufficiency; HeLa Cells; Histones/metabolism; Humans; Male; Mice; Mitogen-Activated Protein Kinases/metabolism; Morphogenesis/genetics; Noonan Syndrome/pathology; Noonan Syndrome/physiopathology; Phenotype; Protein Isoforms/genetics; Protein Isoforms/metabolism; RNA, Small Interfering/genetics; RNA, Small Interfering/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: MAP Kinase Signaling System / Histone Acetyltransferases / Noonan Syndrome Type of study: Prognostic_studies Limits: Animals / Child / Humans / Male Language: En Journal: J Clin Invest Year: 2011 Document type: Article Affiliation country: Germany

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