Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma

Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary si...

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Veröffentlicht in:	Developmental cell 2018-03, Vol.44 (6), p.709-724.e6
Hauptverfasser:	Merk, Daniel J., Ohli, Jasmin, Merk, Natalie D., Thatikonda, Venu, Morrissy, Sorana, Schoof, Melanie, Schmid, Susanne N., Harrison, Luke, Filser, Severin, Ahlfeld, Julia, Erkek, Serap, Raithatha, Kaamini, Andreska, Thomas, Weißhaar, Marc, Launspach, Michael, Neumann, Julia E., Shakarami, Mehdi, Plenker, Dennis, Marra, Marco A., Li, Yisu, Mungall, Andrew J., Moore, Richard A., Ma, Yussanne, Jones, Steven J.M., Lutz, Beat, Ertl-Wagner, Birgit, Rossi, Andrea, Wagener, Rabea, Siebert, Reiner, Jung, Andreas, Eberhart, Charles G., Lach, Boleslaw, Sendtner, Michael, Pfister, Stefan M., Taylor, Michael D., Chavez, Lukas, Kool, Marcel, Schüller, Ulrich
Format:	Artikel
Sprache:	eng
Schlagworte:	acetyltransferase cerebellum CREBBP development Rubinstein-Taybi syndrome SHH medulloblastoma
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