Publications associées à Maladie congénitale

Electrical spectroscopy of defect states and their hybridization in monolayer MoS2

Andras Kis, Oleg Yazyev, Mukesh Kumar Tripathi, Yanfei Zhao, Ahmet Avsar, Kristians Cernevics, Zhenyu Wang, Juan Francisco Gonzalez Marin, Cheol Yeon Cheon, Hyungoo Ji

Defects in solids are unavoidable and can create complex electronic states that can significantly influence the electrical and optical properties of semiconductors. With the rapid progress in the integration of 2D semiconductors in practical devices, it is ...

Nature Research2023

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 ...

WILEY2022

Unified analysis of topological defects in 2D systems of active and passive disks

Ignacio Pagonabarraga Mora, Pasquale Digregorio

We provide a comprehensive quantitative analysis of localized and extended topological defects in the steady state of 2D passive and active repulsive Brownian disk systems. We show that, both in and out-of-equilibrium, the passage from the solid to the hex ...

ROYAL SOC CHEMISTRY2021

Variations of intracellular density during the cell cycle arise from tip-growth regulation in fission yeast

Emrah Bostan, Pascal Damian Odermatt

Intracellular density impacts the physical nature of the cytoplasm and can globally affect cellular processes, yet density regulation remains poorly understood. Here, using a new quantitative phase imaging method, we determined that dry-mass density in fis ...

ELIFE SCIENCES PUBLICATIONS LTD2021

An automatic multi-tissue human fetal brain segmentation benchmark using the Fetal Tissue Annotation Dataset

Meritxell Bach Cuadra, Hamza Kebiri

It is critical to quantitatively analyse the developing human fetal brain in order to fully understand neurodevelopment in both normal fetuses and those with congenital disorders. To facilitate this analysis, automatic multi-tissue fetal brain segmentation ...

NATURE RESEARCH2021

Computational methods for live heart imaging with speed-constrained microscopes

Olivia Mariani

Imaging methods to capture the beating and developing heart inside embryonic animal models such as the zebrafish are a key component for the study of fundamental biological processes such as cardiac birth defects or tissue regeneration. However, live heart ...

EPFL2021

Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

Bernard Schneider

Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting young children. While pre-clinical models of SMA show small spleens, the same is not true in humans. Here, we show by doppler ultrasonography decreased splenic blood flow in Smn(2B/-) mice ...

2020

Identifying and Tracking Defects in Dynamic Supramolecular Polymers

Michele Ceriotti, Piero Gasparotto

A central paradigm of self-assembly is to create ordered structures starting from molecular monomers that spontaneously recognize and interact with each other via noncovalent interactions. In recent years, great efforts have been directed toward perfecting ...

AMER CHEMICAL SOC2020

Improving delamination resistance through tailored defects

John Botsis

Delamination is a well-known damage mode exhibited by laminated composites which has been extensively studied in unidirectional laminates (UD). In this work, a novel strategy consisting of the introduction of a small interlaminar defect to enhance the frac ...

2020

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia

Imen Habibi

Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anoph ...

2019

Compositions and methods for delivering nucleic acids to cochlear and vestibular cells

Bernard Schneider, Paola Andrea Solanes Vega

Provided herein are materials and methods for efficiently delivering nucleic acids to cochlear and vestibular cells, and methods of treating sensory transduction disorders associated with a genetic defect. ...

2019

Increased drug permeability of a stiffened mycobacterial outer membrane in cells lacking MFS transporter Rv1410 and lipoprotein LprG

Georg Fantner, Haig Alexander Eskandarian

The major facilitator superfamily transporter Rv1410 and the lipoprotein LprG (Rv1411) are encoded by a conserved two-gene operon and contribute to virulence in Mycobacterium tuberculosis. Rv1410 was originally postulated to function as a drug efflux pump, ...

2019

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Vincent Meyer

Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in similar to 260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene defect ...

WILEY2019

Increasing N content in GaNAsP nanowires suppresses the impact of polytypism on luminescence

Anna Fontcuberta i Morral, Luca Francaviglia

Cathodoluminescence (CL) and micro-photoluminescence spectroscopies are employed to investigate effects of structural defects on carrier recombination in GaNAsP nanowires (NWs) grown by molecular beam epitaxy on Si substrates. In the NWs with a low N conte ...

2019

Transcription Factor USF1 Is Required for Maintenance of Germline Stem Cells in Male Mice

Pirkka-Pekka Untamo Laurila

A prerequisite for lifelong sperm production is that spermatogonial stem cells (SSCs) balance self-renewal and differentiation, yet factors required for this balance remain largely undefined. Using mouse genetics, we now demonstrate that the ubiquitously e ...

ENDOCRINE SOC2019

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

Michel Aguet

Bcl9 and Pygopus (Pygo) are obligate Wnt/beta-catenin cofactors in Drosophila, yet their contribution to Wnt signaling during vertebrate development remains unresolved. Combining zebrafish and mouse genetics, we document a conserved, beta-catenin-associate ...

COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT2018

Atomistic Simulations of The Structure of Calcium Silicate Hydrates: Interlayer Positions, Water Content And A General Structural Brick Model

Aslam Kunhi Mohamed

Portland cement has been in use by human civilization for over a century. Yet, we do not fully understand its hydration reaction mechanisms due to the complexity of the system and its continued reaction over time making it hard to study it experimentally. ...

EPFL2018

Line Defects and Radiation in N=2 Conformal Theories

Marco Meineri

We study the conformal data of a generic superconformal line defect preserving half of the supercharges in a four-dimensional N = 2 conformal theory. We prove a theory independent relation between the one-point function of the stress tensor in the presence ...

2018

Male-killing toxin in a bacterial symbiont of Drosophila

Bruno Lemaitre, Toshiyuki Harumoto

Several lineages of symbiotic bacteria in insects selfishly manipulate host reproduction to spread in a population 1 , often by distorting host sex ratios. Spiroplasma poulsonii2,3 is a helical and motile, Gram-positive symbiotic bacterium that resides in ...

2018

Nanoscale Defect Engineering and the Resulting Effects on Domain Wall Dynamics in Ferroelectric Thin Films

Nava Setter, Dragan Damjanovic, Silviu Cosmin Sandu, Ludwig Feigl

Defect engineering is one of the cornerstones of the modern electronics industry. Almost all electronic devices include materials that have been doped by ion bombardment. For materials where crystallinity is essential, such as ferroelectrics, defect type a ...

Wiley-Blackwell2017