نتایج جستجو برای: med12 mutations

تعداد نتایج: 172942  

2010
Puja Shahi Kailash Gulshan Anders M. Näär W. Scott Moye-Rowley

The multiprotein transcriptional Mediator complex provides a key link between RNA polymerase II and upstream transcriptional activator proteins. Previous work has established that the multidrug resistance transcription factors Pdr1 and Pdr3 interact with the Mediator component Med15/Gal11 to drive normal levels of expression of the ATP-binding cassette transporter-encoding gene PDR5 in Saccharo...

Journal: :Development 2010
C Stewart Gillmor Mee Yeon Park Michael R Smith Robert Pepitone Randall A Kerstetter R Scott Poethig

The Arabidopsis embryo becomes patterned into central and peripheral domains during the first few days after fertilization. A screen for mutants that affect this process identified two genes, GRAND CENTRAL (GCT)and CENTER CITY (CCT). Mutations in GCT and CCT delay the specification of central and peripheral identity and the globular-to-heart transition, but have little or no effect on the initi...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2008
Inés Carrera Florence Janody Nina Leeds Fabien Duveau Jessica E Treisman

Wnt target gene transcription is mediated by nuclear translocation of stabilized beta-catenin, which binds to TCF and recruits Pygopus, a cofactor with an unknown mechanism of action. The mediator complex is essential for the transcription of RNA polymerase II-dependent genes; it associates with an accessory subcomplex consisting of the Med12, Med13, Cdk8, and Cyclin C subunits. We show here th...

Journal: :Human Reproduction 2023

Abstract Study question We investigated whether machine learning models using MRI data can predict the subtypes and tissue composition of uterine leiomyomas. Summary answer Our were able to leiomyomas with high accuracy. What is known already Recently, somatic mutations in Mediator complex subunit 12 (MED12) gene found be a biomarker leiomyomas, which detected about 70% Uterine are classified i...

2017
Renea A Taylor Michael Fraser Julie Livingstone Shadrielle Melijah G Espiritu Heather Thorne Vincent Huang Winnie Lo Yu-Jia Shiah Takafumi N Yamaguchi Ania Sliwinski Sheri Horsburgh Alice Meng Lawrence E Heisler Nancy Yu Fouad Yousif Melissa Papargiris Mitchell G Lawrence Lee Timms Declan G Murphy Mark Frydenberg Julia F Hopkins Damien Bolton David Clouston John D McPherson Theodorus van der Kwast Paul C Boutros Gail P Risbridger Robert G Bristow

Germline mutations in the BRCA2 tumour suppressor are associated with both an increased lifetime risk of developing prostate cancer (PCa) and increased risk of aggressive disease. To understand this aggression, here we profile the genomes and methylomes of localized PCa from 14 carriers of deleterious germline BRCA2 mutations (BRCA2-mutant PCa). We show that BRCA2-mutant PCa harbour increased g...

Journal: :American journal of medical genetics. Part A 2016
Karl Hackmann Andreas Rump Stefan A Haas Johannes R Lemke Jean-Pierre Fryns Andreas Tzschach Dagmar Wieczorek Beate Albrecht Alma Kuechler Tim Ripperger Albrecht Kobelt Konrad Oexle Sigrid Tinschert Evelin Schrock Vera M Kalscheuer Nataliya Di Donato

The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "br...

Journal: :EMBO reports 2011
Anthony J Turner Nikolai D Belyaev Natalia N Nalivaeva

the amyloid cascade hypothesis—in which the age-dependent accumulation of the amyloid β-peptide (aβ) is proposed to be the trigger for alzheimer disease—has provided a huge impetus for research into disease mechanisms and contributed to the focusing of research on to alzheimer disease therapeutics. aβ itself is derived from the transmembrane amyloid precursor protein (app), the gene for which w...

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