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This is the first patient with documented refractory epilepsy caused by a novel homozygous pathogenic variant in MED23 expanding the phenotypic spectrum. Identification of the underlying genetic defect in MED23 sheds light on the possible mechanism of complete response to the ketogenic diet in this child.
a 7-gene signature was identified which correctly predicted the primary prefibrotic myelofibrosis group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO (zeige MPO Proteine), CEACAM8, CRISP3 (zeige CRISP3 Proteine), MS4A3 (zeige MS4A3 Proteine), CEACAM6, HEMGN, and MMP8 (zeige MMP8 Proteine)
Higher l-arginine (zeige GATM Proteine) was associated with higher risk of Ischemic heart disease (odds ratio and of myocardial infarction, based on 2 SNPs from MED23.
MED23-associated intellectual disability has been found in two brothers from a non-consanguineous family.
MED23 plays an important role in hepatocarcinogenesis, and it may be a novel target for HCC (zeige FAM126A Proteine) therapy.
Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells.
Mediator MED23 regulates basal transcription in vivo via an interaction with P-TEFb (zeige CCNT1 Proteine).
Data show that Med23 RNAi specifically inhibits the proliferation and tumorigenicity of lung cancer cells with hyperactive Ras activity.
missense mutation (p. R617Q) in MED23 that cosegregates with nonsyndromic autosomal recessive intellectual disability; mutation impaired response of JUN and FOS to mitogens by altering interaction between enhancer-bound transcription factors and Mediator
DRIP130 regulates HER2 (zeige ERBB2 Proteine) expression by binding to ESX (zeige ELF3 Proteine)
MED23 constitutes a molecular node in the regulatory network of anabolic bone formation and related diseases.
Med23 contributes to controlling T-cell activation at the transcriptional level and prevents the development of autoimmunity.
The hepatic Med23 deletion impaired the Mediator and RNAPII recruitment and attenuated the expression of FOXO1 (zeige FOXO1 Proteine) target genes.
Data show that Kruppel-like transcription factors KLF2 (zeige KLF2 Proteine) expression is decreased in mediator complex Med23 null thymocytes.
Mediator Med23 deficiency enhances neural differentiation of murine embryonic stem cells through modulating BMP signaling.
Reduced expression of MED23 inhibits cell apoptosis by downregulation of Bax (zeige BAX Proteine), activated Caspase 3 (zeige CASP3 Proteine), activated Caspase 9 (zeige CASP9 Proteine) and upregulation of cyclinD1 and Bcl2 (zeige BCL2 Proteine).
Data show tha tMed23 deficiency in fibroblasts selectively inhibited the oncogenic transformation induced by Ras.
Mediator MED23 controls the cell fate preference that directs differentiation into smooth muscle cells (SMCs) or adipocytes
MED23 regulates a subset of hnRNP L (zeige HNRNPL Proteine)-targeted alternative splicing (AS) and alternative cleavage and polyadenylation (APA (zeige ENPEP Proteine)) events.
MED23 Mediator controls Egr1 gene and stimulates Pol II initiation at a step subsequent to preinitiation complex assembly
Study shows that sur-2 mutation affects the Cbr (zeige CNR1 Proteine)-sur-2/MED23 gene that is orthologous to a C. elegans gene critical for the normal response to the EGF (zeige EGF Proteine) signal. whereas Cel-sur-2 mutants exhibit a reduced vulval development because of defects in the VPC immediately adjacent to the anchor cell (the P6.p cell), similar defects in Caenorhabditis briggsae -sur-2 mutants do not have the same impact.
The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene.
, mediator complex subunit 23
, mediator complex subunit n23
, cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa
, Sp1 transcriptional activation cofactor subunit 3
, mediator of RNA polymerase II transcription subunit 23-like
, mediator of RNA polymerase II transcription subunit 23
, 130 kDa transcriptional co-activator
, 133 kDa transcriptional co-activator
, activator-recruited cofactor 130 kDa component
, cofactor required for Sp1 transcriptional activation subunit 3
, vitamin D3 receptor interacting protein
, CRSP complex subunit 3
, cofactor required for Sp1 transcriptional activation, subunit 3 (130kD)
, protein sur-2 homolog
, cofactor required for Sp1 transcriptional activation, subunit 3