نتایج جستجو برای: med12 mutations

تعداد نتایج: 172942  

Journal: :Birth defects research. Part A, Clinical and molecular teratology 2010
Pedro P Rocha Wilfrid Bleiss Heinrich Schrewe

BACKGROUND A precise temporal and spatial regulation of gene expression is necessary to achieve neural tube closure. Med12, a subunit of the mediator complex, can bind transcription factors and modulate expression of their target genes. Med12 is essential during early mouse development and is important for neural tube closure. METHODS We have made use of a mouse line carrying a conditional nu...

2015
Lu Wang Hao Zeng Qiang Wang Zibo Zhao Thomas G. Boyer Xiuwu Bian Wei Xu

The RNA polymerase II mediator complex subunit 12 (MED12) is frequently mutated in human cancers, and loss of MED12 has been shown to induce drug resistance through activation of transforming growth factor-β receptor (TGF-βR) signaling. We identified MED12 as a substrate for coactivator-associated arginine methyltransferase 1 (CARM1). Not only are the expression levels of CARM1 and MED12 positi...

Journal: :Endocrine-related cancer 2014
Zaki Shaikhibrahim Anne Offermann Martin Braun Roopika Menon Isabella Syring Michael Nowak Rebecca Halbach Wenzel Vogel Christian Ruiz Tobias Zellweger Cyrill A Rentsch Maria Svensson Ove Andren Lukas Bubendorf Saskia Biskup Stefan Duensing Jutta Kirfel Sven Perner

In a recent effort to unravel the molecular basis of prostate cancer (PCa), Barbieri and colleagues using whole-exome sequencing identified a novel recurrently mutated gene, MED12, in 5.4% of primary PCa. MED12, encoding a subunit of the Mediator complex, is a transducer of Wnt/β-catenin signaling, linked to modulation of hedgehog signaling and to the regulation of transforming growth factor be...

2016
Pamela Joy Wernett Robert A. Philibert

MED12 is a member of the Mediator complex that is a key regulator of tissue specific gene expression and moderates intracellular signaling via multiple developmental pathways. Sequence variation in the carboxy-terminus of MED12, which contains a PQL and Opa domain, is associated with X-linked mental retardation behavioral syndromes and schizophrenia. Unfortunately, the mechanism(s) through whic...

Journal: :The Journal of clinical investigation 2015
Priya Mittal Yong-Hyun Shin Svetlana A Yatsenko Carlos A Castro Urvashi Surti Aleksandar Rajkovic

Uterine leiomyomas are benign tumors that can cause pain, bleeding, and infertility in some women. Mediator complex subunit 12 (MED12) exon 2 variants are associated with uterine leiomyomas; however, the causality of MED12 variants, their genetic mode of action, and their role in genomic instability have not been established. Here, we generated a mouse model that conditionally expresses a Med12...

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