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公开(公告)号:US11357748B2
公开(公告)日:2022-06-14
申请号:US15315142
申请日:2015-05-29
发明人: Hans Tomas Bjornsson , Harry Dietz
IPC分类号: A61K31/20 , A61K31/167 , A61K31/12 , A61K31/55 , A61K31/60
摘要: A method is provided for treating a Mendelian disorder of the epigenetic machinery in a subject in need thereof. In particular, the method comprises administering a therapeutically effective amount of an agent that restores balance between open and closed chromatin states at one or more target genes, wherein the agent that restores balance between open and closed chromatin states at one or more target genes is an agent that ameliorates the effect of a defective gene encoding a component of the epigenetic machinery.
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公开(公告)号:US10568854B2
公开(公告)日:2020-02-25
申请号:US15315172
申请日:2015-05-29
发明人: Hans Tomas Bjornsson , Harry Dietz , Joel Benjamin
IPC分类号: A61K31/19 , A23L33/00 , A61K31/20 , A61K31/167 , A61K31/55 , A61K31/166 , A61K31/23 , G01N33/64
摘要: A method is provided for treating a Mendelian disorder of the epigenetic machinery (e.g., Kabuki syndrome) in a subject in need thereof. In particular, the method comprises administering to the subject a ketogenic composition in an amount sufficient to produce a physiologically acceptable ketosis in the subject. A method for selecting a subject for treatment of a Mendelian disorder of the epigenetic machinery (e.g., Kabuki syndrome) is also provided. Ketogenic compositions and kits useful for practicing the methods are also provided.
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公开(公告)号:US10246498B2
公开(公告)日:2019-04-02
申请号:US15315137
申请日:2015-05-29
发明人: Hans Tomas Bjornsson , Harry Dietz
IPC分类号: C07K14/47 , A01K67/027 , G01N33/542 , G01N33/58 , A61K31/165 , A61K31/167 , G01N33/50 , G01N33/68
摘要: Non-FRET-based fusion protein reporter molecules are provided that can be used to monitor histone modifications in living cells. Transgenic animals, particularly non-human mammals, whose genomes comprise an expression cassette encoding a non-FRET-based fusion protein reporter, are also provided. Methods of using the fusion reporter molecules for diagnosing histone-modification-associated disorders and to identify candidate pharmaceutical agents that effect histone modification in cells and tissues are also provided.
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