Search Results - "Pilarowski, Genay O."

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    A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome by Benjamin, Joel S., Pilarowski, Genay O., Carosso, Giovanni A., Zhang, Li, Huso, David. L., Goff, Loyal A., Vernon, Hilary J., Hansen, Kasper D., Bjornsson, Hans T.

    “…Kabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in either of two genes (KMT2D and KDM6A) involved in chromatin…”
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    Journal Article
  2. 2

    Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome by Pilarowski, Genay O., Cazares, Tareian, Zhang, Li, Benjamin, Joel S., Liu, Ke, Jagannathan, Sajjeev, Mousa, Nadeem, Kasten, Jennifer, Barski, Artem, Lindsley, Andrew W., Bjornsson, Hans T.

    Published in Journal of allergy and clinical immunology (01-03-2020)
    “…Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D). Immune dysfunction is frequently…”
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    Journal Article
  3. 3

    Molecular characterisation of the Hyp deletion and an improved assay for its detection by Sheen, Campbell R, Pilarowski, Genay O.W, Wang, Wei, Millan, Jose Luis

    Published in Bone (New York, N.Y.) (01-03-2012)
    “…Abstract The Hyp mouse is a commonly used model for the study of the phosphate wasting disease X-linked hypophosphataemia. The defect in this mouse line is a…”
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    Journal Article
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