Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.
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Kabuki syndrome: clinical and molecular characteristicsThe epigenetic basis of diffuse large B-cell lymphomaHijacked in cancer: the KMT2 (MLL) family of methyltransferasesThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesIron and restless legs syndrome: treatment, genetics and pathophysiology.Epigenetic control of the immune system: a lesson from Kabuki syndrome.Epigenetic mechanisms during ageing and neurogenesis as novel therapeutic avenues in human brain disorders.The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development.RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone MethylationThe necessity for in vivo functional analysis in human medical genetics.Valproic Acid and Other HDAC Inhibitors Upregulate FGF21 Gene Expression and Promote Process Elongation in Glia by Inhibiting HDAC2 and 3A novel KMT2D mutation resulting in Kabuki syndrome: A case report.Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.VII. Are lymphomas driven by epigenetic lesions?Genetic studies in intellectual disability and related disorders.CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.Follicular lymphoma, a B cell malignancy addicted to epigenetic mutations.Epigenetic Mistakes in Neurodevelopmental Disorders.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.Histone Lysine Methylation and Neurodevelopmental Disorders.The Mendelian disorders of the epigenetic machinery.Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.How low can you go? Pushing the limits of low-input ChIP-seq.Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.
P2860
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P2860
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Histone deacetylase inhibition ...... ouse model of Kabuki syndrome.
@ast
Histone deacetylase inhibition ...... ouse model of Kabuki syndrome.
@en
type
label
Histone deacetylase inhibition ...... ouse model of Kabuki syndrome.
@ast
Histone deacetylase inhibition ...... ouse model of Kabuki syndrome.
@en
prefLabel
Histone deacetylase inhibition ...... ouse model of Kabuki syndrome.
@ast
Histone deacetylase inhibition ...... ouse model of Kabuki syndrome.
@en
P2093
P2860
P1476
Histone deacetylase inhibition ...... ouse model of Kabuki syndrome.
@en
P2093
Elizabeth E Gerber
Harry C Dietz
Jacqueline Weissman
Joel S Benjamin
Michelle C Potter
Rebecca G Vaurio
Yi-Chun Chen
P2860
P304
P356
10.1126/SCITRANSLMED.3009278
P407
P577
2014-10-01T00:00:00Z