(Q22337143)

4 July 2017

title

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

1 reference

neurodevelopmental disorder

4 July 2017

0 references

autism spectrum disorder

0 references

1 reference

Rodney C Samaco

Rodney C

Samaco

1 reference

PubMed

7 February 2023

Janine M LaSalle

Janine M

LaSalle

1 reference

PubMed

7 February 2023

Amber Hogart

Amber

Hogart

1 reference

4 July 2017

language of work or name

English

0 references

publication date

22 December 2004

1 reference

4 July 2017

published in

Human Molecular Genetics

1 reference

4 July 2017

1 reference

4 July 2017

1 reference

4 July 2017

page(s)

483-492

1 reference

A genomewide screen of 345 families for autism-susceptibility loci

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

SATB1 targets chromatin remodelling to regulate genes over long distances

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Chicken MAR-binding protein ARBP is homologous to rat methyl-CpG-binding protein MeCP2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Association between a GABRB3 polymorphism and autism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Regulation of DNA methylation of Rasgrf1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

DNA methylation is linked to deacetylation of histone H3, but not H4, on the imprinted genes Snrpn and U2af1-rs1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Parental imprinting and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Mutation screening of the UBE3A/E6-AP gene in autistic disorder

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Features of autism in Rett syndrome and severe mental retardation

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Autism in Angelman syndrome: implications for autism research

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Autism and maternally derived aberrations of chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Mouse models of Angelman syndrome, a neurodevelopmental disorder, display different brain regional GABA(A) receptor alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Analysis of imprinting in mice with uniparental duplication of proximal chromosomes 7 and 15 by use of a custom oligonucleotide microarray

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Plasma amino acid levels in children with autism and their families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Epigenetic regulation of Igf2/H19 imprinting at CTCF insulator binding sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI045

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Elevated plasma gamma-aminobutyric acid (GABA) levels in autistic youngsters: stimulus for a GABA hypothesis of autism.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

Plasma excitatory amino acids in autism.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224722

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Homologous association of oppositely imprinted chromosomal domains

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15615769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDI045

1 reference

OpenCitations bibliographic resource ID

4 July 2017

1955001

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference