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

scientific article published in August 2011

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1126/SCIENCE.1206638
P698PubMed publication ID21868677

P50authorArnold MunnichQ2863363
Laurence ColleauxQ56749298
Sarah BoisselQ117252676
P2093author name stringMarlène Rio
Satoru Hashimoto
Jean-Marc Egly
Mohammed Zarhrate
P2860cites workInteraction of phosphorylated c-Jun with TCF4 regulates intestinal cancer developmentQ24307491
Mediator and cohesin connect gene expression and chromatin architectureQ24632695
Chromatin modifications and their functionQ27861067
Direct interaction of RNA polymerase II and mediator required for transcription in vivo.Q27930411
Mediator structural conservation and implications for the regulation mechanismQ27936934
Mediator-dependent recruitment of TFIIH modules in preinitiation complexQ27939036
TFIIH is negatively regulated by cdk8-containing mediator complexesQ28138931
Transcription control by E1A and MAP kinase pathway via Sur2 mediator subunitQ28213019
AP-1 functions upstream of CREB to control synaptic plasticity in DrosophilaQ28215844
MAPK-regulated transcription: a continuously variable gene switch?Q28217211
The human Mediator complex: a versatile, genome-wide regulator of transcriptionQ28276700
Inducible and constitutive transcription factors in the mammalian nervous system: control of gene expression by Jun, Fos and Krox, and CREB/ATF proteinsQ28291920
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIHQ28588296
Phosphorylation and functions of the RNA polymerase II CTDQ29614764
Complexity in transcription control at the activation domain-mediator interfaceQ30491504
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patientsQ33590419
Activation of immediate early genes and memory formationQ33651838
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 severityQ34387466
The mammalian Mediator complex and its role in transcriptional regulationQ34419211
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeQ34576763
Quantitative analysis of chromosome conformation capture assays (3C-qPCR).Q34581232
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneityQ35006896
Ets ternary complex transcription factorsQ35615313
Mediator and the mechanism of transcriptional activationQ36129156
Activation domain–mediator interactions promote transcription preinitiation complex assembly on promoter DNAQ36347875
The metazoan Mediator co-activator complex as an integrative hub for transcriptional regulationQ37799722
Mediator requirement for both recruitment and postrecruitment steps in transcription initiationQ38329746
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 geneQ43232391
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.Q43711679
XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalphaQ43960571
NER factors are recruited to active promoters and facilitate chromatin modification for transcription in the absence of exogenous genotoxic attack.Q45079199
Selective regulation of vitamin D receptor-responsive genes by TFIIH.Q45114927
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.Q45345384
A mechanism for coordinating chromatin modification and preinitiation complex assembly.Q45947044
sur-2, a novel gene, functions late in the let-60 ras-mediated signaling pathway during Caenorhabditis elegans vulval inductionQ48070632
P433issue6046
P407language of work or nameEnglishQ1860
P921main subjectimmediate early geneQ409638
intellectual disabilityQ183560
disability affecting intellectual abilitiesQ3317827
intellectual disability, autosomal recessive 18Q109933168
P304page(s)1161-1163
P577publication date2011-08-01
P1433published inScienceQ192864
P1476titleMED23 mutation links intellectual disability to dysregulation of immediate early gene expression
P478volume333

Reverse relations

cites work (P2860)
Q34945388A systematic analysis of host factors reveals a Med23-interferon-λ regulatory axis against herpes simplex virus type 1 replication
Q50651597Array-CGH in children with mild intellectual disability: a population-based study.
Q38102822Baculovirus expression: tackling the complexity challenge.
Q37681411CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.
Q34329880Crebinostat: a novel cognitive enhancer that inhibits histone deacetylase activity and modulates chromatin-mediated neuroplasticity
Q57842676Crystal structure of human Mediator subunit MED23
Q51585991De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Q28076446Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Q37186040Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Q96640459ERK signalling: a master regulator of cell behaviour, life and fate
Q44039644Expression and purification of a soluble ESX-binding core domain of SUR2.
Q33567755From neural development to cognition: unexpected roles for chromatin
Q28563889Functional interplay between Mediator and TFIIB in preinitiation complex assembly in relation to promoter architecture
Q26746114Gene regulation in the immediate-early response process
Q97425192Genetic background of ataxia in children younger than 5 years in Finland
Q37981593Genetic variation in the epigenetic machinery and mental health.
Q34968567Genome-wide association of mediator and RNA polymerase II in wild-type and mediator mutant yeast
Q61818064Genomic Enhancers in Brain Health and Disease
Q41665314Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
Q41579833LRP8-Reelin-Regulated Neuronal Enhancer Signature Underlying Learning and Memory Formation.
Q42508007MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Q52429453MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Q48437995MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy
Q53556426MED23-associated intellectual disability in a non-consanguineous family.
Q52130938MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
Q64064059MED28 Over-Expression Shortens the Cell Cycle and Induces Genomic Instability
Q38077643Mechanisms of Mediator complex action in transcriptional activation.
Q58740792Med23 serves as a gatekeeper of the myeloid potential of hematopoietic stem cells
Q36301840Mediator MED23 plays opposing roles in directing smooth muscle cell and adipocyte differentiation.
Q98771709Mediator Med23 Regulates Adult Hippocampal Neurogenesis
Q36132408Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency
Q34348002Mediator complex dependent regulation of cardiac development and disease
Q40663023Mediator independently orchestrates multiple steps of preinitiation complex assembly in vivo
Q37388888Mediator links transcription and DNA repair by facilitating Rad2/XPG recruitment
Q27938886Mediator recruitment to heat shock genes requires dual Hsf1 activation domains and mediator tail subunits Med15 and Med16
Q64228235Novel mutation in the gene for intellectual disability: A case report and literature review
Q34960186RNA polymerase II transcription elongation control
Q35857114Recruitment of Mediator Complex by Cell Type and Stage-Specific Factors Required for Tissue-Specific TAF Dependent Gene Activation in an Adult Stem Cell Lineage
Q36116727Redefining the MED13L syndrome
Q35540172Regulation of primary response genes
Q58700491Regulation of the terminal maturation of iNKT cells by mediator complex subunit 23
Q38999725Regulatory Enhancer-Core-Promoter Communication via Transcription Factors and Cofactors.
Q33640811Structure, assembly and dynamics of macromolecular complexes by single particle cryo-electron microscopy
Q35131077The Mediator complex of Caenorhabditis elegans: insights into the developmental and physiological roles of a conserved transcriptional coregulator
Q38384453The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations
Q45065835The mediator subunit Med23 contributes to controlling T-cell activation and prevents autoimmunity
Q34038183The role of nuclear bodies in gene expression and disease
Q48174606Toward understanding of the mechanisms of Mediator function in vivo: Focus on the preinitiation complex assembly
Q50057687Transcription regulation by the Mediator complex
Q34036033Transcriptional regulation and its misregulation in disease.
Q92846442Transcriptomic correlates of electrophysiological and morphological diversity within and across excitatory and inhibitory neuron classes
Q38951560Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells
Q41360679Variants in Antiviral Genes are Risk Factors for Cognitive Decline and Dementia.

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