Concept

Liaison génétique

Publications associées (104)

Genomic targets and molecular partners of the chromatin regulator KAP1

KAP1 is an enigmatic regulatory protein, first described some twenty years ago, shown to be involved in multiple and diverse cellular functions. Specifically, it mediates tasks critical to cell growth and differentiation, pluripotency, apoptosis, gene sile ...

EPFL2017

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Johan Auwerx, Laurent Mouchiroud, Richardus Houtkooper

Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochond ...

Oxford Univ Press2017

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

Vincenzo Sorrentino

Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the Really ...

Oxford Univ Press2017

Spectroscopic investigations of divertor detachment in TCV

Basil Duval, Holger Reimerdes, Benoît Labit, Christian Gabriel Theiler, Umar Sheikh, Nicola Vianello, Federico Nespoli, Cedric Kar-Wai Tsui, Kevin Henricus Annemarie Verhaegh, Wouter Vijvers, Roberto Maurizio, Claudio Marini

The aim of this work is to provide an understanding of detachment at TCV with emphasis on analysis of the Balmer line emission. A new Divertor Spectroscopy System has been developed for this purpose. Further development of Balmer line analysis techniques h ...

2017

Notch1 haploinsufficiency causes ascending aortic aneurysms in mice

Freddy Radtke

An ascending aortic aneurysm (AscAA) is a life-threatening disease whose molecular basis is poorly understood. Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV), which is associated with AscAA. Here, we describe a potentially novel role f ...

Amer Soc Clinical Investigation Inc2017

Linkage of Phytoplankton Abundance and Surface Temperature in Lake Geneva

Alfred Johny Wüest, Damien Bouffard, Isabel Blanca Sophie Kiefer

Linkage of Phytoplankton Abundance and Surface Temperature in Lake Geneva ...

2016

Genetic diversity of two Daphnia-infecting microsporidian parasites, based on sequence variation in the internal transcribed spacer region

Stefan Jean Laurent

Background: Microsporidia are spore-forming obligate intracellular parasites that include both emerging pathogens and economically important disease agents. However, little is known about the genetic diversity of microsporidia. Here, we investigated patter ...

Biomed Central Ltd2016

The Impact of Linked Selection in Chimpanzees: A Comparative Study

Jeffrey David Jensen, Susanne Petra Pfeifer

Levels of nucleotide diversity vary greatly across the genomes of most species owing to multiple factors. These include variation in the underlying mutation rates, as well as the effects of both direct and linked selection. Fundamental to interpreting the ...

Oxford University Press (OUP)2016

Coalescent inferences in conservation genetics: should the exception become the rule?

Valeria Montano

Genetic estimates of effective population size (Ne) are an established means to develop informed conservation policies. Another key goal to pursue the conservation of endangered species is keeping the connectivity across fragmented environments, to which g ...

Royal Soc2016

Antiviral drug resistance as an adaptive process

Kristen Kay Irwin, Jeffrey David Jensen

Antiviral drug resistance is a matter of great clinical importance that, historically, has been investigated mostly from a virological perspective. Although the proximate mechanisms of resistance can be readily uncovered using these methods, larger evoluti ...

Oxford University Press2016

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