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Fletta eftir höfundi "Reynisdóttir, Tinna"

Fletta eftir höfundi "Reynisdóttir, Tinna"

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    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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    SMYD5 is a regulator of the mild hypothermia response 
    Rafnsdottir, Salvor; Jang, Kijin; Halldorsdottir, Sara Tholl; Vinod, Meghna; Tomasdottir, Arnhildur; Möller, Katrín; Halldórsdóttir, Katrín; Reynisdóttir, Tinna; Atladottir, Laufey Halla; Allison, Kristín Elísabet; Ostacolo, Kévin Jean Antonio; He, Jin; Zhang, Li; Northington, Frances J.; Magnúsdóttir, Erna; Chavez-Valdez, Raul; Anderson, Kimberley Jade; Björnsson, Hans Tómas (2024-08-27)
    The mild hypothermia response (MHR) maintains organismal homeostasis during cold exposure and is thought to be critical for the neuroprotection documented with therapeutic hypothermia. To date, little is known about the transcriptional regulation of ...