Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction (Q27003875)

Crossref

Sakkubai Naidu

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

July 2014

1 reference

published in

Seminars in Neurology

1 reference

volume

34

1 reference

issue

3

1 reference

page(s)

249-57

1 reference

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states

cites work

1 reference

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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

21 March 2017

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Histone regulation in the CNS: basic principles of epigenetic plasticity

21 March 2017

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Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

21 March 2017

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

21 March 2017

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

21 March 2017

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Rett syndrome: revised diagnostic criteria and nomenclature

21 March 2017

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The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA

21 March 2017

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Sequence-specific recognition of methylated DNA by human zinc-finger proteins

21 March 2017

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Epigenetic principles and mechanisms underlying nervous system functions in health and disease

21 March 2017

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

21 March 2017

1 reference

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

21 March 2017

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DNA methylation profiling of human chromosomes 6, 20 and 22

21 March 2017

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EUKARYOTIC CYTOSINE METHYLTRANSFERASES

21 March 2017

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DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

21 March 2017

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

21 March 2017

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The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily

21 March 2017

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Identification and characterization of a family of mammalian methyl-CpG binding proteins

21 March 2017

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 March 2017

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UBE3A/E6-AP mutations cause Angelman syndrome

21 March 2017

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Genomic DNA methylation: the mark and its mediators

21 March 2017

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MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

21 March 2017

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 March 2017

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Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations

21 March 2017

1 reference

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Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome

21 March 2017

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MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression

21 March 2017

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Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 March 2017

1 reference

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Perceptions of epigenetics

21 March 2017

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

7 April 2017

1 reference

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Chromatin modification and epigenetic reprogramming in mammalian development

7 April 2017

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

7 April 2017

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7 April 2017

Rett syndrome and MeCP2.

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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

28 September 2017

1 reference

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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome.

28 September 2017

1 reference

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Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

28 September 2017

The evolving epigenome

1 reference

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Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Neurologic manifestations of Angelman syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Genetic syndromes caused by mutations in epigenetic genes

28 September 2017

1 reference

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ATRX: the case of a peculiar chromatin remodeler

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

RNAs of the human chromosome 15q11-q13 imprinted region

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Understanding the pathogenesis of Angelman syndrome through animal models

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Role of ART in imprinting disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

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

28 September 2017

1 reference

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Rett syndrome: from bed to bench.

28 September 2017

1 reference

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Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders

28 September 2017

1 reference

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Human imprinting syndromes.

28 September 2017

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Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice

28 September 2017

1 reference

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

28 September 2017

1 reference

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Clinical and genetic aspects of Angelman syndrome

28 September 2017

1 reference

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Insights into the role of DNA methylation in disease through the use of mouse models

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

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

28 September 2017

1 reference

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Genomic imprinting: employing and avoiding epigenetic processes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

DNA methylation and methyl-CpG binding proteins: developmental requirements and function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome

28 September 2017

1 reference

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Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors.

28 September 2017

1 reference

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MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Methyl-CpG binding proteins in the nervous system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Clinical variability in Rett syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Development of amino acid receptors in frontal cortex from girls with Rett syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

31 May 2018

1 reference

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Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

31 May 2018

1 reference

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Maintenance of DNA methylation: Dnmt3b joins the dance.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512289

Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome

28 November 2018

1 reference

12 December 2020

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

1 reference

12 December 2020

An integrated epigenetic and genetic approach to common human disease

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12 December 2020

DNA methylation inhibits transcription indirectly via a methyl-CpG binding protein

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12 December 2020

Identifiers

DOI

10.1055/S-0034-1386763

0 references

1 reference

PubMed publication ID

25192503

1 reference