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Fletta eftir efnisorði "epigenetics"

Fletta eftir efnisorði "epigenetics"

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    Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome 
    Zhang, Li; Pilarowski, Genay; Pich, Emilio Merlo; Nakatani, Atsushi; Dunlop, John; Baba, Rina; Matsuda, Satoru; Daini, Masaki; Hattori, Yasushi; Matsumoto, Shigemitsu; Ito, Mitsuhiro; Kimura, Haruhide; Björnsson, Hans Tómas (2021-03-12)
    Kabuki syndrome (KS) is a rare cause of intellectual disability primarily caused by loss-of-function mutations in lysine-specific methyltransferase 2D ( KMT2D), which normally adds methyl marks to lysine 4 on histone 3. Previous studies have shown that ...
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    Neurobehavioral phenotype of Kabuki syndrome : Anxiety is a common feature 
    Kalinousky, Allison; Rapp, Tyler; Hijazi, Hadia; Johnson, Jennifer; Björnsson, Hans Tómas; Harris, Jacqueline R. (2022-10-06)
    Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34–76%) or KDM6A (9–13%). Previously, representative ...
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    RNA sequencing suggests that non-coding RNAs play a role in the development of acquired haemophilia 
    Tigu, Adrian Bogdan; Hotea, Ionut; Drula, Rares; Zimta, Alina Andreea; Dirzu, Noemi; Santa, Maria; Constantinescu, Catalin; Dima, Delia; Bergþórsson, Jón Þór; Greiff, Victor; Gulei, Diana; Coriu, Daniel; Serban, Margit; Mahlangu, Johnny; Tomuleasa, Ciprian (2023-07)
    Acquired haemophilia (AH) is a rare disorder characterized by bleeding in patients with no personal or family history of coagulation/clotting-related diseases. This disease occurs when the immune system, by mistake, generates autoantibodies that target ...
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    Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome 
    Ng, Rowena; Björnsson, Hans Tómas; Fahrner, Jill A.; Harris, Jacqueline R. (2022-10-13)
    Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder caused by mutation in KMT2A and characterized by neurodevelopmental delay. This study is the first prospective investigation to examine the sleep and behavioral phenotypes among those with WSS ...