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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1006/abio.1976.9999openalex-snapshot
A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye Binding
inferredcites →https://doi.org/10.1016/j.cell.2006.09.040openalex-snapshot
Wapl Controls the Dynamic Association of Cohesin with Chromatin
inferredcites →https://doi.org/10.1016/j.cell.2010.10.031openalex-snapshot
Sororin Mediates Sister Chromatid Cohesion by Antagonizing Wapl
inferredcites →https://doi.org/10.1016/j.cub.2004.06.052openalex-snapshot
Regulation of Sister Chromatid Cohesion between Chromosome Arms
inferredcites →https://doi.org/10.1016/j.cub.2004.07.053openalex-snapshot
Scc2 Couples Replication Licensing to Sister Chromatid Cohesion in Xenopus Egg Extracts
inferredcites →https://doi.org/10.1016/j.cub.2006.03.049openalex-snapshot
Human Scc4 Is Required for Cohesin Binding to Chromatin, Sister-Chromatid Cohesion, and Mitotic Progression
inferredcites →https://doi.org/10.1016/j.cub.2006.10.061openalex-snapshot
Human Wapl Is a Cohesin-Binding Protein that Promotes Sister-Chromatid Resolution in Mitotic Prophase
inferredcites →https://doi.org/10.1016/j.cub.2007.02.029openalex-snapshot
Sororin Is Required for Stable Binding of Cohesin to Chromatin and for Sister Chromatid Cohesion in Interphase
inferredcites →https://doi.org/10.1016/j.cub.2010.08.019openalex-snapshot
Hos1 Is a Lysine Deacetylase for the Smc3 Subunit of Cohesin
inferredcites →https://doi.org/10.1016/j.gde.2011.01.018openalex-snapshot
Cohesin: genomic insights into controlling gene transcription and development
inferredcites →https://doi.org/10.1016/j.molcel.2008.06.006openalex-snapshot
Acetylation of Smc3 by Eco1 Is Required for S Phase Sister Chromatid Cohesion in Both Human and Yeast
inferredcites →https://doi.org/10.1016/j.molcel.2009.04.008openalex-snapshot
Distinct Targets of the Eco1 Acetyltransferase Modulate Cohesion in S Phase and in Response to DNA Damage
inferredcites →https://doi.org/10.1016/j.molcel.2010.08.008openalex-snapshot
An Smc3 Acetylation Cycle Is Essential for Establishment of Sister Chromatid Cohesion
inferredcites →https://doi.org/10.1016/j.molcel.2010.08.009openalex-snapshot
Hos1 Deacetylates Smc3 to Close the Cohesin Acetylation Cycle
inferredcites →https://doi.org/10.1016/s0092-8674(00)00132-xopenalex-snapshot
Two Distinct Pathways Remove Mammalian Cohesin from Chromosome Arms in Prophase and from Centromeres in Anaphase
inferredcites →https://doi.org/10.1016/s0968-0004(00)01561-9openalex-snapshot
Cn3D: sequence and structure views for Entrez
inferredcites →https://doi.org/10.1016/s1097-2765(02)00515-4openalex-snapshot
Molecular Architecture of SMC Proteins and the Yeast Cohesin Complex
inferredcites →https://doi.org/10.1021/bi060212uopenalex-snapshot
Catalytic Activity and Inhibition of Human Histone Deacetylase 8 Is Dependent on the Identity of the Active Site Metal Ion
inferredcites →https://doi.org/10.1021/bi801610copenalex-snapshot
Structural Studies of Human Histone Deacetylase 8 and Its Site-Specific Variants Complexed with Substrate and Inhibitors,
inferredcites →https://doi.org/10.1038/nature01900openalex-snapshot
S-phase checkpoint proteins Tof1 and Mrc1 form a stable replication-pausing complex
inferredcites →https://doi.org/10.1038/nature06634openalex-snapshot
Cohesin mediates transcriptional insulation by CCCTC-binding factor
inferredcites →https://doi.org/10.1038/nature09534openalex-snapshot
A map of human genome variation from population-scale sequencing
inferredcites →https://doi.org/10.1038/nbt1385openalex-snapshot
Direct multiplexed measurement of gene expression with color-coded probe pairs
inferredcites →https://doi.org/10.1038/ncb1177openalex-snapshot
Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex
inferredcites →https://doi.org/10.1038/ng1363openalex-snapshot
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
inferredcites →https://doi.org/10.1038/ng1364openalex-snapshot
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
inferredcites →https://doi.org/10.1038/ng1779openalex-snapshot
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
inferredcites →https://doi.org/10.1038/ng2057openalex-snapshot
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
inferredcites →https://doi.org/10.1038/nmeth.1226openalex-snapshot
Mapping and quantifying mammalian transcriptomes by RNA-Seq
inferredcites →https://doi.org/10.1038/sj.embor.7401047openalex-snapshot
Substrate binding to histone deacetylases as shown by the crystal structure of the HDAC8–substrate complex
inferredcites →https://doi.org/10.1086/424698openalex-snapshot
NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations
inferredcites →https://doi.org/10.1086/507565openalex-snapshot
X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females
inferredcites →https://doi.org/10.1086/511888openalex-snapshot
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
inferredcites →https://doi.org/10.1126/science.1061376openalex-snapshot
Cohesin Cleavage by Separase Required for Anaphase and Cytokinesis in Human Cells
inferredcites →https://doi.org/10.1126/science.1157774openalex-snapshot
Eco1-Dependent Cohesin Acetylation During Establishment of Sister Chromatid Cohesion
inferredcites →https://doi.org/10.1126/science.1157880openalex-snapshot
A Molecular Determinant for the Establishment of Sister Chromatid Cohesion
inferredcites →https://doi.org/10.1146/annurev-genet-102108-134233openalex-snapshot
Cohesin: Its Roles and Mechanisms
inferredcites →https://doi.org/10.1186/gb-2009-10-3-r25openalex-snapshot
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
inferredcites →https://doi.org/10.1186/gb-2010-11-3-r25openalex-snapshot
A scaling normalization method for differential expression analysis of RNA-seq data
inferredcites →https://doi.org/10.1371/journal.pbio.1000119openalex-snapshot
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
inferredcites →https://doi.org/10.1371/journal.pone.0005232openalex-snapshot
Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.3951497openalex-extracted
Long Noncoding RNA LINC01435 Impedes Diabetic Wound Healing by Facilitating YY1-Mediated HDAC8 Expression
inferred← citeshttps://doi.org/10.1002/0471684228.egp11627openalex-snapshot
Sister Chromatid Cohesion
inferred← citeshttps://doi.org/10.1002/0471695998.mgs013openalex-snapshot
C ornelia de L ange Syndrome
inferred← citeshttps://doi.org/10.1002/1873-3468.14949openalex-snapshot
Cohesin — bridging the gap among gene transcription, genome stability, and human diseases
inferred← citeshttps://doi.org/10.1002/2211-5463.13896openalex-snapshot
Lysine deacetylase inhibitors have low selectivity in cells and exhibit predominantly off‐target effects
inferred← citeshttps://doi.org/10.1002/9780470015902.a0022413.pub2openalex-snapshot
Sister Chromatid Cohesion, Chromosome Instability ( CIN ) and Diseases
inferred← citeshttps://doi.org/10.1002/9780470015902.a0025309openalex-snapshot
Molecular Genetics of Cohesinopathies
inferred← citeshttps://doi.org/10.1002/9780470015902.a0027240openalex-snapshot
The Genetics of Facial Morphology
inferred← citeshttps://doi.org/10.1002/9781119432692.ch15openalex-snapshot
CORNELIA DE LANGE SYNDROME
inferred← citeshttps://doi.org/10.1002/9783527697274.ch4openalex-snapshot
The Role of HATs and HDACs in Cell Physiology and Disease
inferred← citeshttps://doi.org/10.1002/acn3.147openalex-snapshot
The promise and perils of HDAC inhibitors in neurodegeneration
inferred← citeshttps://doi.org/10.1002/ajmg.a.36237openalex-snapshot
Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.36252openalex-snapshot
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
inferred← citeshttps://doi.org/10.1002/ajmg.a.36457openalex-snapshot
Cervical spine malformation in cornelia de lange syndrome: A report of three patients
inferred← citeshttps://doi.org/10.1002/ajmg.a.36573openalex-snapshot
Autism traits in children and adolescents with Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.37390openalex-snapshot
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
inferred← citeshttps://doi.org/10.1002/ajmg.a.37878openalex-snapshot
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
inferred← citeshttps://doi.org/10.1002/ajmg.a.38228openalex-snapshot
Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age
inferred← citeshttps://doi.org/10.1002/ajmg.a.38710openalex-snapshot
X‐linked intellectual disability update 2017
inferred← citeshttps://doi.org/10.1002/ajmg.a.61033openalex-snapshot
Cornelia de Lange syndrome in diverse populations
inferred← citeshttps://doi.org/10.1002/ajmg.a.61101openalex-snapshot
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype
inferred← citeshttps://doi.org/10.1002/ajmg.a.61539openalex-snapshot
Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.61611openalex-snapshot
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.61926openalex-snapshot
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.63247openalex-snapshot
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
inferred← citeshttps://doi.org/10.1002/ajmg.a.63793openalex-snapshot
Sleep correlates of behavior functioning in Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31438openalex-snapshot
Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow‐up
inferred← citeshttps://doi.org/10.1002/ajmg.c.31490openalex-snapshot
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics
inferred← citeshttps://doi.org/10.1002/ajmg.c.31492openalex-snapshot
Genome stability: What we have learned from cohesinopathies
inferred← citeshttps://doi.org/10.1002/ajmg.c.31494openalex-snapshot
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31495openalex-snapshot
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity
inferred← citeshttps://doi.org/10.1002/ajmg.c.31502openalex-snapshot
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients
inferred← citeshttps://doi.org/10.1002/ajmg.c.31503openalex-snapshot
Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment
inferred← citeshttps://doi.org/10.1002/bdr2.1070openalex-snapshot
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts
inferred← citeshttps://doi.org/10.1002/bdr2.2271openalex-snapshot
Epigenetic regulation of craniofacial development and disease
inferred← citeshttps://doi.org/10.1002/bdr2.2383openalex-snapshot
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management
inferred← citeshttps://doi.org/10.1002/bies.201600207openalex-snapshot
Releasing the cohesin ring: A rigid scaffold model for opening the DNA exit gate by Pds5 and Wapl
inferred← citeshttps://doi.org/10.1002/ccr3.1010openalex-snapshot
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
inferred← citeshttps://doi.org/10.1002/cga.70064openalex-snapshot
Aberrant Splicing From an HDAC8 Intronic Variant c.112‐ 15C >A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals
inferred← citeshttps://doi.org/10.1002/chem.202001712openalex-snapshot
Switching the Switch: Ligand Induced Disulfide Formation in HDAC8
inferred← citeshttps://doi.org/10.1002/cmdc.201300413openalex-snapshot
Towards Selective Inhibition of Histone Deacetylase Isoforms: What Has Been Achieved, Where We Are and What Will Be Next
inferred← citeshttps://doi.org/10.1002/cmdc.201300414openalex-snapshot
Design, Synthesis, and Biological Activity of NCC149 Derivatives as Histone Deacetylase 8‐Selective Inhibitors
inferred← citeshttps://doi.org/10.1002/cmdc.201600528openalex-snapshot
Potent and Selective Non‐hydroxamate Histone Deacetylase 8 Inhibitors
inferred← citeshttps://doi.org/10.1002/cmdc.201900114openalex-snapshot
Structurally Diverse Histone Deacetylase Photoreactive Probes: Design, Synthesis, and Photolabeling Studies in Live Cells and Tissue
inferred← citeshttps://doi.org/10.1002/cmdc.202000149openalex-snapshot
Design and Synthesis of Dihydroxamic Acids as HDAC6/8/10 Inhibitors
inferred← citeshttps://doi.org/10.1002/cmdc.70270openalex-snapshot
Fair and Square: Design, Synthesis and Biological Evaluations of Squaric Acid Derivatives as Novel HDAC8 Inhibitors
inferred← citeshttps://doi.org/10.1002/dvdy.24354openalex-snapshot
Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin
inferred← citeshttps://doi.org/10.1002/dvdy.24510openalex-snapshot
How many roads lead to cohesinopathies?
inferred← citeshttps://doi.org/10.1002/dvg.70065openalex-snapshot
Divergent Spatiotemporal Expression Patterns of Histone Deacetylases During Mouse Embryonic Tongue, Palate, and Mandible Development
inferred← citeshttps://doi.org/10.1002/humu.22430openalex-snapshot
Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
inferred← citeshttps://doi.org/10.1002/humu.22685openalex-snapshot
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics
inferred← citeshttps://doi.org/10.1002/humu.22761openalex-snapshot
De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
inferred← citeshttps://doi.org/10.1002/humu.23012openalex-snapshot
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
inferred← citeshttps://doi.org/10.1002/humu.24384openalex-snapshot
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1002/humu.24438openalex-snapshot
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
inferred← citeshttps://doi.org/10.1002/inmd.20230004openalex-snapshot
From classic medicinal chemistry to state‐of‐the‐art interdisciplinary medicine: Recent advances in proteolysis‐targeting chimeras technology
inferred← citeshttps://doi.org/10.1002/jcp.25106openalex-snapshot
CyclinD1 Down‐Regulation and Increased Apoptosis Are Common Features of Cohesinopathies
inferred← citeshttps://doi.org/10.1002/jcp.27341openalex-snapshot
HDAC8 regulates canonical Wnt pathway to promote differentiation in skeletal muscles
inferred← citeshttps://doi.org/10.1002/jcp.30491openalex-snapshot
Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance
inferred← citeshttps://doi.org/10.1002/mgg3.1318openalex-snapshot
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family
inferred← citeshttps://doi.org/10.1002/mgg3.2116openalex-snapshot
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
inferred← citeshttps://doi.org/10.1002/mgg3.2447openalex-snapshot
Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1002/mgg3.48openalex-snapshot
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion
inferred← citeshttps://doi.org/10.1002/pd.4279openalex-snapshot
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally
inferred← citeshttps://doi.org/10.1002/pro.2813openalex-snapshot
KDAC8 substrate specificity quantified by a biologically relevant, label‐free deacetylation assay
inferred← citeshttps://doi.org/10.1002/pro.3030openalex-snapshot
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders
inferred← citeshttps://doi.org/10.1002/pro.4512openalex-snapshot
Phage‐assisted , active site‐directed ligand evolution of a potent and selective histone deacetylase 8 inhibitor
inferred← citeshttps://doi.org/10.1002/wdev.190openalex-snapshot
Etiology and pathogenesis of the cohesinopathies
inferred← citeshttps://doi.org/10.1007/7854_2019_110openalex-snapshot
Genetic Variation in Long-Range Enhancers
inferred← citeshttps://doi.org/10.1007/978-1-4939-0805-9_4openalex-snapshot
Chromatin Immunoprecipitation Protocol for Mammalian Cells
inferred← citeshttps://doi.org/10.1007/978-1-4939-0888-2_5openalex-snapshot
Linking Chromosome Duplication and Segregation via Sister Chromatid Cohesion
inferred← citeshttps://doi.org/10.1007/978-1-4939-2190-4_5openalex-snapshot
Epigenetic Regulation in Autism
inferred← citeshttps://doi.org/10.1007/978-1-4939-6545-8_11openalex-snapshot
Zebrafish as a Model to Study Cohesin and Cohesinopathies
inferred← citeshttps://doi.org/10.1007/978-1-4939-6545-8_12openalex-snapshot
Analysis of Cohesin Function in Gene Regulation and Chromatin Organization in Interphase
inferred← citeshttps://doi.org/10.1007/978-1-4939-6545-8_16openalex-snapshot
ChIP-seq Analysis of Condensin Complex in Cultured Mammalian Cells
inferred← citeshttps://doi.org/10.1007/978-3-030-84763-0_3openalex-snapshot
Interaction Between Genetics and Epigenetics in Obesity and Their Clinical Significance
inferred← citeshttps://doi.org/10.1007/978-3-319-18096-0_78openalex-snapshot
Cornelia de Lange Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-319-18389-3_21openalex-snapshot
Ocular Manifestations of Systemic Syndromes
inferred← citeshttps://doi.org/10.1007/978-3-662-52909-6_10openalex-snapshot
Syndromic Immunodeficiencies
inferred← citeshttps://doi.org/10.1007/978-981-92-1439-6_5openalex-snapshot
Chromosome Architecture Defined by the Meiosis-Specific Cohesin in Mammalian Germ Cells
inferred← citeshttps://doi.org/10.1007/s00018-020-03714-5openalex-snapshot
The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective
inferred← citeshttps://doi.org/10.1007/s00018-024-05122-5openalex-snapshot
Role of chromosomal cohesion and separation in aneuploidy and tumorigenesis
inferred← citeshttps://doi.org/10.1007/s00204-018-2234-8openalex-snapshot
The HDAC6/8/10 inhibitor TH34 induces DNA damage-mediated cell death in human high-grade neuroblastoma cell lines
inferred← citeshttps://doi.org/10.1007/s00204-021-03174-1openalex-snapshot
Inhibitors of class I HDACs and of FLT3 combine synergistically against leukemia cells with mutant FLT3
inferred← citeshttps://doi.org/10.1007/s00412-013-0441-xopenalex-snapshot
Transcription and beyond: the role of mammalian class I lysine deacetylases
inferred← citeshttps://doi.org/10.1007/s00439-017-1758-yopenalex-snapshot
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
inferred← citeshttps://doi.org/10.1007/s00439-024-02675-0openalex-snapshot
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
inferred← citeshttps://doi.org/10.1007/s10803-016-3015-yopenalex-snapshot
Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi Syndromes
inferred← citeshttps://doi.org/10.1007/s10803-019-04232-5openalex-snapshot
A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes
inferred← citeshttps://doi.org/10.1007/s10803-020-04617-xopenalex-snapshot
Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome
inferred← citeshttps://doi.org/10.1007/s10803-021-05343-8openalex-snapshot
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation
inferred← citeshttps://doi.org/10.1007/s11356-021-16354-4openalex-snapshot
Specificity of time- and dose-dependent morphological endpoints in the fish embryo acute toxicity (FET) test for substances with diverse modes of action: the search for a “fingerprint”
inferred← citeshttps://doi.org/10.1007/s11427-015-4956-7openalex-snapshot
Regulation of sister chromatid cohesion during the mitotic cell cycle
inferred← citeshttps://doi.org/10.1007/s11910-013-0432-6openalex-snapshot
Epigenetics of Sleep and Chronobiology
inferred← citeshttps://doi.org/10.1007/s12035-020-01981-8openalex-snapshot
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing
inferred← citeshttps://doi.org/10.1007/s12035-026-06175-2openalex-snapshot
Epigenetic Insights and Exosome-Based Therapeutics for Insomnia: Bridging Sleep Biology and Precision Medicine
inferred← citeshttps://doi.org/10.1007/s12565-020-00567-7openalex-snapshot
Regulation and dysregulation of spatial chromatin structure in the central nervous system
inferred← citeshttps://doi.org/10.1007/s13353-012-0126-9openalex-snapshot
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1007/s40142-015-0065-yopenalex-snapshot
Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology
inferred← citeshttps://doi.org/10.1007/s40473-014-0007-0openalex-snapshot
Epigenetic Dysregulation in the Schizophrenic Brain
inferred← citeshttps://doi.org/10.1007/springerreference_106117openalex-snapshot
Sister Chromatid Cohesion
inferred← citeshttps://doi.org/10.1007/springerreference_36779openalex-snapshot
Sister Chromatid Cohesion
inferred← citeshttps://doi.org/10.1016/b978-0-12-401662-0.00006-3openalex-snapshot
Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader–Willi and Smith–Magenis Syndromes
inferred← citeshttps://doi.org/10.1016/b978-0-12-407676-1.00001-9openalex-snapshot
The Repair and Signaling Responses to DNA Double-Strand Breaks
inferred← citeshttps://doi.org/10.1016/b978-0-12-416024-8.00001-5openalex-snapshot
Cohesin in Gametogenesis
inferred← citeshttps://doi.org/10.1016/b978-0-12-417114-5.00018-8openalex-snapshot
Epigenetics in Intellectual Disability
inferred← citeshttps://doi.org/10.1016/b978-0-12-800977-2.00008-5openalex-snapshot
The Future of Neuroepigenetics in the Human Brain
inferred← citeshttps://doi.org/10.1016/b978-0-12-801829-3.00013-6openalex-snapshot
Epigenetic Approaches to Define the Molecular and Genetic Risk Architectures of Schizophrenia
inferred← citeshttps://doi.org/10.1016/b978-0-12-814409-1.00006-9openalex-snapshot
Cornelia de Lange Syndrome
inferred← citeshttps://doi.org/10.1016/bs.mie.2019.06.029openalex-snapshot
Preparation of a new construct of human histone deacetylase 8 for the crystallization of enzyme-inhibitor complexes
inferred← citeshttps://doi.org/10.1016/j.ajhg.2016.11.011openalex-snapshot
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.01.019openalex-snapshot
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.08.002openalex-snapshot
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
inferred← citeshttps://doi.org/10.1016/j.ajhg.2021.03.017openalex-snapshot
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
inferred← citeshttps://doi.org/10.1016/j.ajhg.2024.06.015openalex-snapshot
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
inferred← citeshttps://doi.org/10.1016/j.ajhg.2026.06.012openalex-snapshot
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder
inferred← citeshttps://doi.org/10.1016/j.arabjc.2022.103863openalex-snapshot
Identification of novel HDAC8 selective inhibitors through ligand and structure based studies: Exploiting the acetate release channel differences among class I isoforms
inferred← citeshttps://doi.org/10.1016/j.bbadis.2013.07.020openalex-snapshot
Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome
inferred← citeshttps://doi.org/10.1016/j.bbagrm.2013.11.002openalex-snapshot
Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies
inferred← citeshttps://doi.org/10.1016/j.bbcan.2016.05.002openalex-snapshot
Cohesin mutations in human cancer
inferred← citeshttps://doi.org/10.1016/j.bbrc.2014.01.125openalex-snapshot
Genome-wide analysis of murine renal distal convoluted tubular cells for the target genes of mineralocorticoid receptor
inferred← citeshttps://doi.org/10.1016/j.bbrc.2018.02.195openalex-snapshot
HDAC8 regulates neural differentiation through embryoid body formation in P19 cells
inferred← citeshttps://doi.org/10.1016/j.bbrc.2020.11.001openalex-snapshot
Histone deacetylase 8 inhibition suppresses mantle cell lymphoma viability while preserving natural killer cell function
inferred← citeshttps://doi.org/10.1016/j.bbrc.2022.08.068openalex-snapshot
HDAC8 is implicated in embryoid body formation via canonical Hedgehog signaling and regulates neuronal differentiation
inferred← citeshttps://doi.org/10.1016/j.berh.2014.10.014openalex-snapshot
Epigenetic changes: The missing link
inferred← citeshttps://doi.org/10.1016/j.bioorg.2021.105297openalex-snapshot
A new class of cytotoxic agents targets tubulin and disrupts microtubule dynamics
inferred← citeshttps://doi.org/10.1016/j.bioorg.2023.106546openalex-snapshot
Discovery of highly potent HDAC8 PROTACs with anti-tumor activity
inferred← citeshttps://doi.org/10.1016/j.bioorg.2025.109035openalex-snapshot
Olaparib-Cediranib Hybrid as Dual PARP-VEGFR3 Inhibitor Elicits Antitumor Efficacy: Rational Design, Synthesis, Biological Evaluation and Construction of a Charge Convertible pH Responsive Nanoformulation
inferred← citeshttps://doi.org/10.1016/j.biopsych.2013.07.015openalex-snapshot
The Genome in Three Dimensions: A New Frontier in Human Brain Research
inferred← citeshttps://doi.org/10.1016/j.biopsych.2021.11.021openalex-snapshot
Epigenetics of Autism Spectrum Disorder: Histone Deacetylases
inferred← citeshttps://doi.org/10.1016/j.bmc.2020.115607openalex-snapshot
An in silico mechanistic insight into HDAC8 activation facilitates the discovery of new small-molecule activators
inferred← citeshttps://doi.org/10.1016/j.bmc.2026.118606openalex-snapshot
Discovery of 6-substituted indole and tetrahydroquinoline derivatives as selective HDAC8 inhibitors
inferred← citeshttps://doi.org/10.1016/j.bmc.2026.118694openalex-snapshot
Identification of non-hydroxamate histone deacetylase 8 inhibitors using deep learning-based screening of two-dimensional molecular images
inferred← citeshttps://doi.org/10.1016/j.bmcl.2025.130312openalex-snapshot
Recent progress in synthetic strategies to develop potent, HDAC8-selective, small-molecule inhibitors
inferred← citeshttps://doi.org/10.1016/j.bone.2020.115606openalex-snapshot
Role of histone deacetylases in bone development and skeletal disorders
inferred← citeshttps://doi.org/10.1016/j.ceb.2012.10.013openalex-snapshot
Cohesin, a chromatin engagement ring
inferred← citeshttps://doi.org/10.1016/j.ceb.2015.08.003openalex-snapshot
Cohesin and human disease: lessons from mouse models
inferred← citeshttps://doi.org/10.1016/j.ceb.2018.01.010openalex-snapshot
Establishing and dissolving cohesion during the vertebrate cell cycle
inferred← citeshttps://doi.org/10.1016/j.cell.2013.02.029openalex-snapshot
CTCF and Cohesin: Linking Gene Regulatory Elements with Their Targets
inferred← citeshttps://doi.org/10.1016/j.cell.2022.12.044openalex-snapshot
A replication fork determinant for the establishment of sister chromatid cohesion
inferred← citeshttps://doi.org/10.1016/j.celrep.2014.04.023openalex-snapshot
BRCA2 Coordinates the Activities of Cell-Cycle Kinases to Promote Genome Stability
inferred← citeshttps://doi.org/10.1016/j.celrep.2016.02.020openalex-snapshot
Crystal Structure of the Cohesin Gatekeeper Pds5 and in Complex with Kleisin Scc1
inferred← citeshttps://doi.org/10.1016/j.celrep.2019.02.009openalex-snapshot
Human Pluripotent Stem Cell-Derived Tumor Model Uncovers the Embryonic Stem Cell Signature as a Key Driver in Atypical Teratoid/Rhabdoid Tumor
inferred← citeshttps://doi.org/10.1016/j.celrep.2020.107647openalex-snapshot
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
inferred← citeshttps://doi.org/10.1016/j.chembiol.2023.07.010openalex-snapshot
HDAC3 and HDAC8 PROTAC dual degrader reveals roles of histone acetylation in gene regulation
inferred← citeshttps://doi.org/10.1016/j.chembiol.2024.02.003openalex-snapshot
A proximity labeling-based orthogonal trap strategy identifies HDAC8 promotes cell motility by modulating cortactin acetylation
inferred← citeshttps://doi.org/10.1016/j.conb.2024.102902openalex-snapshot
Emerging X-linked genes associated with neurodevelopmental disorders in females
inferred← citeshttps://doi.org/10.1016/j.cub.2012.09.049openalex-snapshot
Cell Biology: Cohesin Ring Exit Gate Revealed
inferred← citeshttps://doi.org/10.1016/j.cub.2014.04.037openalex-snapshot
Checks and Balances between Cohesin and Polycomb in Gene Silencing and Transcription
inferred← citeshttps://doi.org/10.1016/j.cub.2015.05.017openalex-snapshot
Esco1 Acetylates Cohesin via a Mechanism Different from That of Esco2
inferred← citeshttps://doi.org/10.1016/j.cub.2018.06.037openalex-snapshot
Temporal Regulation of ESCO2 Degradation by the MCM Complex, the CUL4-DDB1-VPRBP Complex, and the Anaphase-Promoting Complex
inferred← citeshttps://doi.org/10.1016/j.cub.2025.01.044openalex-snapshot
A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes
inferred← citeshttps://doi.org/10.1016/j.devcel.2014.09.010openalex-snapshot
Cohesin and Its Regulation: On the Logic of X-Shaped Chromosomes
inferred← citeshttps://doi.org/10.1016/j.devcel.2020.05.025openalex-snapshot
Persistent DNA Damage and Senescence in the Placenta Impacts Developmental Outcomes of Embryos
inferred← citeshttps://doi.org/10.1016/j.ebiom.2019.10.003openalex-snapshot
MYC predetermines the sensitivity of gastrointestinal cancer to antifolate drugs through regulating TYMS transcription
inferred← citeshttps://doi.org/10.1016/j.ejmcr.2022.100097openalex-snapshot
Targeting cancers and metabolic disorders: The prospects of combining HDAC8 inhibitor and activator
inferred← citeshttps://doi.org/10.1016/j.ejmcr.2025.100255openalex-snapshot
Design, synthesis, and biological evaluation of substituted benzyl-triazolopyridine derivatives as non-hydroxamate based HDAC8 inhibitors
inferred← citeshttps://doi.org/10.1016/j.ejmech.2018.12.039openalex-snapshot
Histone deacetylase 8 (HDAC8) and its inhibitors with selectivity to other isoforms: An overview
inferred← citeshttps://doi.org/10.1016/j.ejmech.2019.05.078openalex-snapshot
Histone acetyltransferase inhibitors: An overview in synthesis, structure-activity relationship and molecular mechanism
inferred← citeshttps://doi.org/10.1016/j.ejmech.2019.111756openalex-snapshot
Synthesis and structure activity relationship of 1, 3-benzo-thiazine-2-thiones as selective HDAC8 inhibitors
inferred← citeshttps://doi.org/10.1016/j.ejmech.2020.112291openalex-snapshot
Purine/purine isoster based scaffolds as new derivatives of benzamide class of HDAC inhibitors
inferred← citeshttps://doi.org/10.1016/j.ejmech.2022.114544openalex-snapshot
Discovery of pomalidomide-based PROTACs for selective degradation of histone deacetylase 8
inferred← citeshttps://doi.org/10.1016/j.ejmech.2022.114602openalex-snapshot
Accommodation of ring C expanded deoxyvasicinone in the HDAC inhibitory pharmacophore culminates into a tractable anti-lung cancer agent and pH-responsive nanocarrier
inferred← citeshttps://doi.org/10.1016/j.ejmech.2024.116866openalex-snapshot
Rationally designed febuxostat-based hydroxamic acid and its pH-Responsive nanoformulation elicits anti-tumor activity
inferred← citeshttps://doi.org/10.1016/j.ejmech.2024.116972openalex-snapshot
HDAC8 as a target in drug discovery: Function, structure and design
inferred← citeshttps://doi.org/10.1016/j.ejmg.2012.12.009openalex-snapshot
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
inferred← citeshttps://doi.org/10.1016/j.ejmg.2014.05.006openalex-snapshot
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
inferred← citeshttps://doi.org/10.1016/j.ejmg.2015.09.007openalex-snapshot
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy
inferred← citeshttps://doi.org/10.1016/j.ejmg.2017.11.004openalex-snapshot
Novel mosaic variants in two patients with Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1016/j.ejmg.2025.105024openalex-snapshot
Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype
inferred← citeshttps://doi.org/10.1016/j.ejogrb.2023.03.005openalex-snapshot
Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation
inferred← citeshttps://doi.org/10.1016/j.exphem.2024.104216openalex-snapshot
Chromatin organization in myelodysplastic syndrome
inferred← citeshttps://doi.org/10.1016/j.febslet.2013.06.035openalex-snapshot
Cohesin: Functions beyond sister chromatid cohesion
inferred← citeshttps://doi.org/10.1016/j.gde.2012.11.004openalex-snapshot
Condensin, cohesin and the control of chromatin states
inferred← citeshttps://doi.org/10.1016/j.gene.2013.12.045openalex-snapshot
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case
inferred← citeshttps://doi.org/10.1016/j.gene.2014.11.033openalex-snapshot
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1016/j.gene.2015.07.016openalex-snapshot
Deletion of 11q12.3–11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1016/j.hbpd.2019.07.006openalex-snapshot
Decreased expression of HDAC8 indicates poor prognosis in patients with intrahepatic cholangiocarcinoma
inferred← citeshttps://doi.org/10.1016/j.ijporl.2014.03.038openalex-snapshot
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1016/j.ijporl.2016.06.032openalex-snapshot
Improvement in hearing loss over time in Cornelia de Lange syndrome
inferred← citeshttps://doi.org/10.1016/j.isci.2019.09.015openalex-snapshot
Histone Deacetylase 3 Governs Perinatal Cerebral Development via Neural Stem and Progenitor Cells
inferred← citeshttps://doi.org/10.1016/j.isci.2022.104006openalex-snapshot
Long noncoding RNA LINC01435 impedes diabetic wound healing by facilitating YY1-mediated HDAC8 expression
inferred← citeshttps://doi.org/10.1016/j.jcmgh.2018.10.011openalex-snapshot
Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics
inferred← citeshttps://doi.org/10.1016/j.jsb.2020.107681openalex-snapshot
Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders
inferred← citeshttps://doi.org/10.1016/j.meegid.2017.05.011openalex-snapshot
Evolutionary relationships among protein lysine deacetylases of parasites causing neglected diseases
inferred← citeshttps://doi.org/10.1016/j.molcel.2016.01.026openalex-snapshot
Releasing Activity Disengages Cohesin’s Smc3/Scc1 Interface in a Process Blocked by Acetylation
inferred← citeshttps://doi.org/10.1016/j.molcel.2017.10.009openalex-snapshot
Smc3 Deacetylation by Hos1 Facilitates Efficient Dissolution of Sister Chromatid Cohesion during Early Anaphase
inferred← citeshttps://doi.org/10.1016/j.molcel.2021.04.015openalex-snapshot
Targeting histone acetylation dynamics and oncogenic transcription by catalytic P300/CBP inhibition
inferred← citeshttps://doi.org/10.1016/j.molcel.2023.07.024openalex-snapshot
Cohesin mediates DNA loop extrusion and sister chromatid cohesion by distinct mechanisms
inferred← citeshttps://doi.org/10.1016/j.neuint.2017.06.014openalex-snapshot
Spatial organization of genome architecture in neuronal development and disease
inferred← citeshttps://doi.org/10.1016/j.neuron.2016.11.047openalex-snapshot
Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration
inferred← citeshttps://doi.org/10.1016/j.neuron.2022.06.004openalex-snapshot
3D spatial genome organization in the nervous system: From development and plasticity to disease
inferred← citeshttps://doi.org/10.1016/j.neuropharm.2013.12.025openalex-snapshot
The genetics of cognitive epigenetics
inferred← citeshttps://doi.org/10.1016/j.pharmthera.2022.108190openalex-snapshot
HDACs and the Epigenetic Plasticity of Cancer Cells: Target the Complexity
inferred← citeshttps://doi.org/10.1016/j.phrs.2021.105750openalex-snapshot
Targeting HDAC8 to ameliorate skeletal muscle differentiation in Duchenne muscular dystrophy
inferred← citeshttps://doi.org/10.1016/j.redox.2018.09.013openalex-snapshot
The enzyme activity of histone deacetylase 8 is modulated by a redox-switch
inferred← citeshttps://doi.org/10.1016/j.ridd.2014.01.033openalex-snapshot
The prevalence of aggression in genetic syndromes: A review
inferred← citeshttps://doi.org/10.1016/j.schres.2016.01.039openalex-snapshot
Understanding the genetic liability to schizophrenia through the neuroepigenome
inferred← citeshttps://doi.org/10.1016/j.scr.2022.102756openalex-snapshot
Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)
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