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

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16 February 2018

author name string

Satoru Hashimoto

1

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16 February 2018

Mohammed Zarhrate

3

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Marlène Rio

4

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Jean-Marc Egly

6

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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

issue

6046

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16 February 2018

page(s)

1161-1163

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16 February 2018

The mammalian Mediator complex and its role in transcriptional regulation

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

21 January 2018

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

21 January 2018

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Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1126/SCIENCE.1206638

1 reference

16 February 2018

PubMed ID

21868677

1 reference

16 February 2018