Genetic syndromes caused by mutations in epigenetic genes (Q38078209)

28 August 2017

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title

Genetic syndromes caused by mutations in epigenetic genes (English)

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28 August 2017

2

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28 August 2017

María Berdasco

1

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28 August 2017

publication date

31 January 2013

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28 August 2017

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28 August 2017

volume

132

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28 August 2017

issue

4

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28 August 2017

page(s)

359-383

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Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity

28 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

MEF2C transcription factor controls chondrocyte hypertrophy and bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Regulating a master regulator: establishing tissue-specific gene expression in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

CHD7 cooperates with PBAF to control multipotent neural crest formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Regulation of chromatin by histone modifications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Acute lymphoblastic leukemia in Weaver syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Aberrant epigenetic landscape in cancer: how cellular identity goes awry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DNA methylation in stem cell renewal and multipotency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Identification of MeCP2 mutations in a series of females with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

MeCP2, a key contributor to neurological disease, activates and represses transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

HDAC4 regulates neuronal survival in normal and diseased retinas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Targeted deletion of Dicer in the heart leads to dilated cardiomyopathy and heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Polycomb protein Ezh2 regulates pancreatic beta-cell Ink4a/Arf expression and regeneration in diabetes mellitus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DiGeorge syndrome critical region 8 (DGCR8) protein-mediated microRNA biogenesis is essential for vascular smooth muscle cell development in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Phosphorylated CREB binds specifically to the nuclear protein CBP

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Novel syndromic form of X-linked complicated spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Causes and consequences of microRNA dysregulation in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

CBP/p300-mediated acetylation of histone H3 on lysine 56

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Epigenetic treatments for cognitive impairments

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The role of oxidative stress in Rett syndrome: an overview.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The SET-domain protein superfamily: protein lysine methyltransferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

EHMT1 protein binds to nuclear factor-κB p50 and represses gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Human SRCAP and Drosophila melanogaster DOM are homologs that function in the notch signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Chromatin remodelling in mammalian cells by ISWI-type complexes--where, when and why?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

21 January 2018

Epigenetics in cancer

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Non-coding RNAs in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The polycomb group protein EZH2 is required for mammalian circadian clock function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The activity of the murine DNA methyltransferase Dnmt1 is controlled by interaction of the catalytic domain with the N-terminal part of the enzyme leading to an allosteric activation of the enzyme after binding to methylated DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

New genes with roles in the C. elegans embryo revealed using RNAi of ovary-enriched ORFeome clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Cotreatment with vorinostat enhances activity of MK-0457 (VX-680) against acute and chronic myelogenous leukemia cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mechanisms for ATP-dependent chromatin remodelling: the means to the end

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The involvement of epigenetic defects in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

X-linked mental retardation and epigenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in EZH2 cause Weaver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Distinct factors control histone variant H3.3 localization at specific genomic regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A population study of chromosome 22q11 deletions in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Reversal of neurological defects in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Molecular basis for the recognition of primary microRNAs by the Drosha-DGCR8 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DNA methylation profiling in the clinic: applications and challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DICER1 mutations in familial pleuropulmonary blastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Chromatin remodelling during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

An embryonic stem cell chromatin remodeling complex, esBAF, is an essential component of the core pluripotency transcriptional network.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

MeCP2 preferentially binds to methylated linker DNA in the absence of the terminal tail of histone H3 and independently of histone acetylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Distinct roles of GCN5/PCAF-mediated H3K9ac and CBP/p300-mediated H3K18/27ac in nuclear receptor transactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Cutting edge: TCR stimulation is sufficient for induction of Foxp3 expression in the absence of DNA methyltransferase 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Polycomb EZH2 controls self-renewal and safeguards the transcriptional identity of skeletal muscle stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Approval summary: azacitidine for treatment of myelodysplastic syndrome subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Double null cells reveal that CBP and p300 are dispensable for p53 targets p21 and Mdm2 but variably required for target genes of other signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Therapeutic application of histone deacetylase inhibitors for central nervous system disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Inhibitors of class 1 histone deacetylases reverse contextual memory deficits in a mouse model of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Silencing of human polycomb target genes is associated with methylation of histone H3 Lys 27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

CBP histone acetyltransferase activity is a critical component of memory consolidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Epigenetic regulation of mammalian pericentric heterochromatin in vivo by HP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Genetic and epigenetic defects in mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A histone H3 lysine 27 demethylase regulates animal posterior development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

An essential switch in subunit composition of a chromatin remodeling complex during neural development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Cockayne syndrome group B cellular and biochemical functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A role for glia in the progression of Rett's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DNA methylation impacts on learning and memory in aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Regulation of NF-kappaB by NSD1/FBXL11-dependent reversible lysine methylation of p65.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Structural basis for double-stranded RNA processing by Dicer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Quantitative analysis of CBP- and P300-induced histone acetylations in vivo using native chromatin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The transcriptional coactivator Querkopf controls adult neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Differential localization of HDAC4 orchestrates muscle differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Regulation of cAMP-responsive element-binding protein-mediated transcription by the SNF2/SWI-related protein, SRCAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

MeCP2 dysfunction in Rett syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Chromatin remodelling beyond transcription: the INO80 and SWR1 complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

L1 retrotransposition in neurons is modulated by MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

CHD chromatin remodelers and the transcription cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Nizp1, a novel multitype zinc finger protein that interacts with the NSD1 histone lysine methyltransferase through a unique C2HR motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The transcriptional coactivators p300 and CBP are histone acetyltransferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mammalian SWI/SNF complexes facilitate DNA double-strand break repair by promoting gamma-H2AX induction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Epigenetic modifications and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Autism-associated familial microdeletion of Xp11.22

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mechanisms predisposing to childhood overgrowth and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Loss of the putative catalytic domain of HDAC4 leads to reduced thermal nociception and seizures while allowing normal bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Genitopatellar syndrome: a recognizable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Stability and flexibility of epigenetic gene regulation in mammalian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The SWI/SNF complex and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Purification of a human SRCAP complex that remodels chromatin by incorporating the histone variant H2A.Z into nucleosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The novel histone deacetylase inhibitor, LBH589, induces expression of DNA damage response genes and apoptosis in Ph- acute lymphoblastic leukemia cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

UTX mediates demethylation of H3K27me3 at muscle-specific genes during myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The SWI/SNF chromatin remodeling protein Brg1 is required for vertebrate neurogenesis and mediates transactivation of Ngn and NeuroD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The chromatin remodeling factor SRCAP modulates expression of prostate specific antigen and cellular proliferation in prostate cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Structure-Based Mechanistic Insights into DNMT1-Mediated Maintenance DNA Methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mecp2-null mice provide new neuronal targets for Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Oxidative damage to methyl-CpG sequences inhibits the binding of the methyl-CpG binding domain (MBD) of methyl-CpG binding protein 2 (MeCP2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Histone deacetylase inhibitors enhance memory and synaptic plasticity via CREB:CBP-dependent transcriptional activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

MECP2 mutations in males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Ezh2 regulates anteroposterior axis specification and proximodistal axis elongation in the developing limb.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

The chromatin remodeling complex NuRD establishes the poised state of rRNA genes characterized by bivalent histone modifications and altered nucleosome positions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Gene reactivation by 5-aza-2'-deoxycytidine-induced demethylation requires SRCAP-mediated H2A.Z insertion to establish nucleosome depleted regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Structural insights into a novel histone demethylase PHF8

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1271-X

Querkopf, a MYST family histone acetyltransferase, is required for normal cerebral cortex development

21 January 2018

1 reference

12 December 2020

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

1 reference

12 December 2020

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

1 reference

12 December 2020

The roles of EZH2 in cell lineage commitment.

1 reference

12 December 2020

Update on Kleefstra Syndrome

1 reference

12 December 2020

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome

1 reference

12 December 2020

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

1 reference

12 December 2020

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

1 reference

12 December 2020

p300/CBP proteins: HATs for transcriptional bridges and scaffolds

1 reference

12 December 2020

Dgcr8 controls neural crest cells survival in cardiovascular development

1 reference

12 December 2020

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

1 reference

12 December 2020

E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators

1 reference

12 December 2020

The impact of MeCP2 loss- or gain-of-function on synaptic plasticity

1 reference

12 December 2020

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

1 reference

12 December 2020

10.1007/S00439-013-1271-X

Identifiers

DOI

1 reference

Dimensions Publication ID

28 August 2017

1008557657

0 references

1 reference