Search Results - "Pilarowski, Genay O."
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A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome
Published in Proceedings of the National Academy of Sciences - PNAS (03-01-2017)“…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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Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome
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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Molecular characterisation of the Hyp deletion and an improved assay for its detection
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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Lymph node colonization induces tumor-immune tolerance to promote distant metastasis
Published in Cell (26-05-2022)“…For many solid malignancies, lymph node (LN) involvement represents a harbinger of distant metastatic disease and, therefore, an important prognostic factor…”
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