(Q34283663)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

5 February 2020

main subject

disability

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Lisenka Vissers

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Christian Gilissen

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Joris A Veltman

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Annette Schenck

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Hans van Bokhoven

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

19

Han G Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

15

Jeroen van Reeuwijk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

16

Arjan P M de Brouwer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

14

Koenraad Devriendt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1

Tjitske Kleefstra

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

3

Kornelia Neveling

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Marjolein H Willemsen

4

object named as

Marjolein H Willemsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

Willemijn M Wissink-Lindhout

5 February 2020

7

object named as

Willemijn Wissink-Lindhout

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

11

Willy M Nillesen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

9

Willem M R van den Akker

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Tom S Koemans

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Michaela Fenckova

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Trine Prescott

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Robin D Clark

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Huiqing Zhou

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Nael Nadif Kasri

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

language of work or name

English

0 references

publication date

21 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

5 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

volume

91

1 reference

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5 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

page(s)

73-82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

Update on Kleefstra Syndrome

5 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Genetic and epigenetic networks in intellectual disabilities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Epigenetic mechanisms in cognition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

SWI/SNF nucleosome remodellers and cancer.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Genetics of early onset cognitive impairment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Disruption of the epigenetic code: an emerging mechanism in mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Reversibility of functional deficits in experimental models of Rett syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Massively parallel sequencing of ataxia genes after array-based enrichment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Crucial roles for interactions between MLL3/4 and INI1 in nuclear receptor transactivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

The chromosome 9q subtelomere deletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

TreeFam: a curated database of phylogenetic trees of animal gene families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Drosophila, the golden bug, emerges as a tool for human genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Tissue-specific mRNA expression profiles of human nuclear receptor subfamilies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Molecular and comparative genetics of mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Methylation at lysine 4 of histone H3 in ecdysone-dependent development of Drosophila

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Molecular determinants of steroid inhibition for the mouse constitutive androstane receptor.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

A novel nuclear receptor corepressor complex, N-CoR, contains components of the mammalian SWI/SNF complex and the corepressor KAP-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

SMART, a simple modular architecture research tool: identification of signaling domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

A de novo paradigm for mental retardation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Xenobiotic-metabolizing enzymes and transporters in the normal human brain: regional and cellular mapping as a basis for putative roles in cerebral function.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Characterization of activating signal cointegrator-2 as a novel transcriptional coactivator of the xenobiotic nuclear receptor constitutive androstane receptor

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Identification of two independent nucleosome-binding domains in the transcriptional co-activator SPBP

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397275

10.1016/J.AJHG.2012.05.003

28 October 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726846%20AND%20SRC:MED&resulttype=core&format=json