Associated Papers
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Maia N et al.
Genes, 2021
35052418 (PubMed )
Supplement: genes-13-00078-s001.zip › genes-1494316-Table_S1.xls › Table_S1
Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
Osko JD et al.
Journal of Structural Biology, 2021
Structural and Functional Influence of the Glycine-Rich Loop G302GGGY on the Catalytic Tyrosine of Histone Deacetylase 8.
Porter NJ et al.
Biochemistry, 2016
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
Deardorff MA et al.
Protein Science : a Publication of the Protein Society, 2016
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I et al.
Clinical Genetics, 2016
Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.
Decroos C et al.
Biochemistry, 2015
Histone deacetylases: structural determinants of inhibitor selectivity.
Micelli C et al.
Drug Discovery Today, 2015
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.
Decroos C et al.
Acs Chemical Biology, 2014
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
Feng L et al.
Journal of Human Genetics, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ et al.
Human Molecular Genetics, 2014
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