Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K–AKT pathway
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DOI: 10.1002/gcc.22396
Abstract: Adenomas of the breast are rare benign tumors although single cases with malignant behavior have been reported. However, the genetic basis of these tumors is unknown. Employing targeted next generation sequencing of 50 cancer‐related genes… read more here.
Keywords: tubular lactating; adenomas; lactating ductal; med12 ... See more keywords
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
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DOI: 10.1002/humu.23157
Abstract: MED12 is a key component of the transcription‐regulating Mediator complex. Specific missense and in‐frame insertion/deletion mutations in exons 1 and 2 have been identified in uterine leiomyomas, breast tumors, and chronic lymphocytic leukemia. Here, we… read more here.
Keywords: nonsense mutation; somatic med12; med12; mrna decay ... See more keywords
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
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DOI: 10.1002/mgg3.569
Abstract: Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X‐linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3‐dependent Sonic Hedgehog (SHH) signaling pathway has been… read more here.
Keywords: intellectual disability; linked intellectual; med12; sonic hedgehog ... See more keywords
Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.
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DOI: 10.1016/j.cancergen.2018.01.001
Abstract: Black women are disproportionately affected by uterine leiomyomata (UL), or fibroids, compared to other racial groups, having a greater lifetime risk of developing UL and an earlier age of diagnosis. In order to elucidate molecular… read more here.
Keywords: black women; clinical pathologic; molecular profiling; pathologic cytogenetic ... See more keywords
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
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DOI: 10.1093/hmg/ddx099
Abstract: Mediator occupies a key role in protein coding genes expression in mediating the contacts between gene specific factors and the basal transcription machinery but little is known regarding the role of each Mediator subunits. Mutations… read more here.
Keywords: immediate early; expression; med12; genes iegs ... See more keywords
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders
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DOI: 10.1111/cge.13412
Abstract: MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene expression and lead to at least three distinct X‐linked intellectual disability syndromes (FG,… read more here.
Keywords: architecture phenotypic; phenotypic; med12; mediator complex ... See more keywords
Loss of MED12 Induces Tumor Dormancy in Human Epithelial Ovarian Cancer via Downregulation of EGFR.
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DOI: 10.1158/0008-5472.can-18-0134
Abstract: A high rate of disease relapse makes epithelial ovarian cancer (EOC) the leading cause of death among all gynecologic malignancies. These relapses are often due to tumor dormancy. Here we identify the RNA polymerase II… read more here.
Keywords: epithelial ovarian; dormancy; tumor dormancy; ovarian cancer ... See more keywords
MED12 regulates a transcriptional network of calcium-handling genes in the heart.
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DOI: 10.1172/jci.insight.91920
Abstract: The Mediator complex regulates gene transcription by linking basal transcriptional machinery with DNA-bound transcription factors. The activity of the Mediator complex is mainly controlled by a kinase submodule that is composed of 4 proteins, including… read more here.
Keywords: transcription; heart; handling genes; calcium handling ... See more keywords
Separate roles for Med12 and Wnt signaling in regulation of oxytocin expression
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DOI: 10.1242/bio.031229
Abstract: ABSTRACT Transcriptional control of oxytocinergic cell development influences social, sexual, and appetite related behaviors and is implicated in disorders such as autism and Prader-Willi syndrome. Mediator 12 (Med12) is a transcriptional coactivator required for multiple… read more here.
Keywords: wnt signaling; oxytocin expression; oxt expression; expression ... See more keywords
MED12 Regulates Smooth Muscle Cell Functions and Participates in the Development of Aortic Dissection
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DOI: 10.3390/genes13040692
Abstract: Aortic dissection (AD) is a life-threatening disease with high morbidity and mortality, and effective pharmacotherapeutic remedies for it are lacking. Therefore, AD’s molecular pathogenesis and etiology must be elucidated. The aim of this study was… read more here.
Keywords: proliferation; aortic dissection; smooth muscle; med12 ... See more keywords
Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas
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DOI: 10.3390/ijms24043742
Abstract: Recent studies have demonstrated that somatic MED12 mutations in exon 2 occur at a frequency of up to 80% and have a functional role in leiomyoma pathogenesis. The objective of this study was to elucidate… read more here.
Keywords: rna transcripts; med12 mutations; rna; expression ... See more keywords