HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
about
The functional interactome landscape of the human histone deacetylase familyGenome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial MorphologyMetabolic reprogramming by class I and II histone deacetylasesMechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathiesMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesCohesinopathies of a feather flock togetherNew and emerging HDAC inhibitors for cancer treatmentStructural basis for the inhibition of histone deacetylase 8 (HDAC8), a key epigenetic player in the blood fluke Schistosoma mansoniCompromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum DisordersChl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae.Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesThe promise and perils of HDAC inhibitors in neurodegenerationX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesCohesin: functions beyond sister chromatid cohesionReduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange SyndromeMutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationAcetylation site specificities of lysine deacetylase inhibitors in human cellsDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Cohesion promotes nucleolar structure and functionDROMPA: easy-to-handle peak calling and visualization software for the computational analysis and validation of ChIP-seq dataDefective sister chromatid cohesion is synthetically lethal with impaired APC/C function.A neural crest origin for cohesinopathy heart defectsNipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.BRCA2 coordinates the activities of cell-cycle kinases to promote genome stabilityDe Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.Immunologic features of Cornelia de Lange syndrome.Linking chromosome duplication and segregation via sister chromatid cohesionFunctional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndromeChecks and balances between cohesin and polycomb in gene silencing and transcription.MiR-153 targets the nuclear factor-1 family and protects against teratogenic effects of ethanol exposure in fetal neural stem cells.Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsEpigenetic control of gene function in schistosomes: a source of therapeutic targets?Genetic alterations of the cohesin complex genes in myeloid malignancies.Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Nipbl and mediator cooperatively regulate gene expression to control limb development.Hydroxamic acid-based histone deacetylase (HDAC) inhibitors can mediate neuroprotection independent of HDAC inhibitionClinical whole-exome sequencing for the diagnosis of mendelian disorders.The maintenance of chromosome structure: positioning and functioning of SMC complexes.
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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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name
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@ast
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@en
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@en-gb
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@nl
type
label
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@ast
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@en
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@en-gb
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@nl
prefLabel
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@ast
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@en
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@en-gb
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@nl
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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
@en
P2093
Christian Jaulin
Christophe Decroos
Claude Prigent
David W Christianson
Dinah Clark
Frank J Kaiser
Ian D Krantz
Kathryn E Cole
Katsuya Saitoh
Kyotaro Hirashima
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P2888
P3181
P356
10.1038/NATURE11316
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P50
P577
2012-09-13T00:00:00Z
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P6179
1002930651