Browsing IRIS by Subject "Myeloid-Lymphoid Leukemia Protein"

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KMT2D regulates activation, localization, and integrin expression by T-cells

Potter, Sarah J.; Zhang, Li; Kotliar, Michael; Wu, Yuehong; Schafer, Caitlin; Stefan, Kurtis; Boukas, Leandros; Qu’d, Dima; Bodamer, Olaf; Simpson, Brittany N.; Barski, Artem; Lindsley, Andrew W.; Björnsson, Hans Tómas (2024-05-03)

Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up on ...
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 ...

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