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Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition

Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by germline pathogenic variants in EZH2, which encodes the predominant H3K27 methyltransferase and key enzymatic component of Polycomb repressive complex 2 (PRC2). Weaver syndrome is characterized by striking overgrowt...

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Detalles Bibliográficos
Autores principales: Gao, Christine W, Lin, WanYing, Riddle, Ryan C, Kushwaha, Priyanka, Boukas, Leandros, Björnsson, Hans T, Hansen, Kasper D, Fahrner, Jill A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10327066/
https://www.ncbi.nlm.nih.gov/pubmed/37425751
http://dx.doi.org/10.1101/2023.06.23.546270

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