Publication

Mutations in Bcl9 and Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/beta-catenin signaling

Publications associées (36)

Graph Chatbot

Chattez avec Graph Search

Posez n’importe quelle question sur les cours, conférences, exercices, recherches, actualités, etc. de l’EPFL ou essayez les exemples de questions ci-dessous.

AVERTISSEMENT : Le chatbot Graph n'est pas programmé pour fournir des réponses explicites ou catégoriques à vos questions. Il transforme plutôt vos questions en demandes API qui sont distribuées aux différents services informatiques officiellement administrés par l'EPFL. Son but est uniquement de collecter et de recommander des références pertinentes à des contenus que vous pouvez explorer pour vous aider à répondre à vos questions.

Connectez-vous pour utiliser Chat avec Graph Search

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi

PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe ...

WILEY2021

TBX3 acts as tissue-specific component of the Wnt/beta-catenin transcriptional complex

Michel Aguet, Andreas Eduard Moor

BCL9 and PYGO are beta-catenin cofactors that enhance the transcription of Wnt target genes. They have been proposed as therapeutic targets to diminish Wnt signaling output in intestinal malignancies. Here we find that, in colorectal cancer cells and in de ...

ELIFE SCIENCES PUBLICATIONS LTD2020

Experimental study of atrial fibrillation cycle length during rapid atrial septal pacing

Jean-Marc Vesin, Adrian Luca, Sasan Yazdani

Computer model-based simulations have shown that rapid stimulation at 60-100% of atrial fibrillation cycle length (AFCL) from a ring of electrodes located around the septum may induce local capture in both atria for most AF dynamics. The present study aims ...

2017

Oxygen defects in GaAs: A hybrid functional study

Alfredo Pasquarello, Davide Colleoni

Using hybrid density functional calculations, we address the structural properties, formation energies, and charge transition levels of a variety of oxygen defects in GaAs. The set of considered defects comprises the bridging O atom in a As-O-Ga configurat ...

Amer Physical Soc2016

Endothelial Notch1 Is Required for Proper Development of the Semilunar Valves and Cardiac Outflow Tract

Freddy Radtke

Background-Congenital heart disease is the most common type of birth defect, affecting approximate to 2% of the population. Malformations involving the cardiac outflow tract and semilunar valves account for >50% of these cases predominantly because of a bi ...

Wiley-Blackwell2016

, ,

The electronic properties of the oxygen vacancy and interstitial in amorphous Al2O3 are studied via ab initio molecular dynamics simulations and hybrid functional calculations. Our results indicate that these defects do not occur in amorphous Al2O3, due to ...

American Institute of Physics2016

Phage selection of peptide macrocycles against b-catenin to interfere with Wnt signaling

Christian Heinis, Pierre Vincent Dessen, Davide Bertoldo, Maola Khan Mohammad Golam

Upregulation of b-catenin, the primary mediator of the Wnt signaling pathway, plays an important role in the tumorigenesis of several types of human cancer. Targeting b-catenin to interfere with its ability to serve as a translational co-activator is consi ...

2016

Origin of Fermi-level pinning at GaAs/oxide interfaces through the hybrid functional study of defects

Davide Colleoni

Gallium arsenide is currently under scrutiny for replacing silicon in microelectronic devices due to its high carrier mobilities. However, the widespread use of this semiconductor is hampered by the intrinsic difficulty of producing high-quality interfaces ...

EPFL2015

, ,

Using density functional calculations, we study a set of candidate defects for Fermi-level pinning at GaAs/oxide interfaces. The set of considered defects comprises both bulklike and interfacial defects, including As antisites, Ga and As dangling bonds, th ...

American Physical Society2015

The Bcl9-beta-catenin interface as a potential therapeutic target for colorectal cancer

Andreas Eduard Moor

Aberrantly active Wnt signaling is the hallmark driver of colorectal cancer (CRC). Bcl9/9l proteins are components of the main transcriptional activation complex of canonical Wnt signaling and interact with beta-catenin via a highly conserved homology doma ...

EPFL2014