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Fletta eftir höfundi "Zhang, Li"

Fletta eftir höfundi "Zhang, Li"

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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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    KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans 
    Kalinousky, Allison J.; Luperchio, Teresa R.; Schrode, Katrina M.; Harris, Jacqueline R.; Zhang, Li; DeLeon, Valerie B.; Fahrner, Jill A.; Lauer, Amanda M.; Björnsson, Hans Tómas (2024-01)
    Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural ...
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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 ...