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