(Q48932486)

16 February 2018

title

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. (English)

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16 February 2018

intellectual disability, autosomal recessive 18

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intellectual disability

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based on heuristic

inferred from title

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based on heuristic

inferred from title

disability affecting intellectual abilities

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Laurence Colleaux

7

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Arnold Munnich

5

object named as

Arnold Munnich

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16 February 2018

2

Sarah Boissel

1 reference

16 February 2018

author name string

Satoru Hashimoto

1

1 reference

16 February 2018

Mohammed Zarhrate

3

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16 February 2018

Marlène Rio

4

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16 February 2018

Jean-Marc Egly

6

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16 February 2018

language of work or name

English

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publication date

1 August 2011

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16 February 2018

published in

Science

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16 February 2018

volume

333

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16 February 2018

page(s)

1161-1163

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16 February 2018

issue

6046

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16 February 2018

The mammalian Mediator complex and its role in transcriptional regulation

cites work

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Mediator and the mechanism of transcriptional activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

The human Mediator complex: a versatile, genome-wide regulator of transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Activation domain–mediator interactions promote transcription preinitiation complex assembly on promoter DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Mediator structural conservation and implications for the regulation mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

The metazoan Mediator co-activator complex as an integrative hub for transcriptional regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

sur-2, a novel gene, functions late in the let-60 ras-mediated signaling pathway during Caenorhabditis elegans vulval induction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Transcription control by E1A and MAP kinase pathway via Sur2 mediator subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Phosphorylation and functions of the RNA polymerase II CTD

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

A mechanism for coordinating chromatin modification and preinitiation complex assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Chromatin modifications and their function

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

MAPK-regulated transcription: a continuously variable gene switch?

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Interaction of phosphorylated c-Jun with TCF4 regulates intestinal cancer development

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Mediator and cohesin connect gene expression and chromatin architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Ets ternary complex transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Mediator requirement for both recruitment and postrecruitment steps in transcription initiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Complexity in transcription control at the activation domain-mediator interface

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Inducible and constitutive transcription factors in the mammalian nervous system: control of gene expression by Jun, Fos and Krox, and CREB/ATF proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Mediator-dependent recruitment of TFIIH modules in preinitiation complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

TFIIH is negatively regulated by cdk8-containing mediator complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Direct interaction of RNA polymerase II and mediator required for transcription in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

NER factors are recruited to active promoters and facilitate chromatin modification for transcription in the absence of exogenous genotoxic attack.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Activation of immediate early genes and memory formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

AP-1 functions upstream of CREB to control synaptic plasticity in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Quantitative analysis of chromosome conformation capture assays (3C-qPCR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Selective regulation of vitamin D receptor-responsive genes by TFIIH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1206638

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.1206638

1 reference

16 February 2018

PubMed ID

21868677

1 reference

16 February 2018