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

1

Rodney C

Samaco

1 reference

PubMed

7 February 2023

Janine M LaSalle

3

Janine M

LaSalle

1 reference

PubMed

7 February 2023

Amber Hogart

2

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

volume

14

1 reference

4 July 2017

issue

4

1 reference

4 July 2017

page(s)

483-492

1 reference

A genomewide screen of 345 families for autism-susceptibility loci

4 July 2017

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1 reference

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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21 January 2018

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21 January 2018

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Autism and maternally derived aberrations of chromosome 15q.

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

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21 January 2018

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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

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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