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Browsing by Author "Boukas, Leandros"

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Coexpression patterns define epigenetic regulators associated with neurological dysfunction

Boukas, Leandros; Havrilla, James M.; Hickey, Peter F.; Quinlan, Aaron R.; Bjornsson, Hans; Hansen, Kasper D. (Cold Spring Harbor Laboratory, 2019-03-11)

Coding variants in epigenetic regulators are emerging as causes of neurological dysfunction and cancer. However, a comprehensive effort to identify disease candidates within the human epigenetic machinery (EM) has not been performed; it is unclear ...
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2

Reynisdóttir, Tinna; Anderson, Kimberley Jade; Boukas, Leandros; Björnsson, Hans Tómas (2022-06-21)

Wiedemann-Steiner syndrome (WDSTS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WDSTS, we examined the spatial ...
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition

Gao, Christine W.; Lin, Wan Ying; Riddle, Ryan C.; Kushwaha, Priyanka; Boukas, Leandros; Björnsson, Hans Tómas; Hansen, Kasper D.; Fahrner, Jill A. (2024-01-09)

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 ...

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