VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 Phenotype in Humans

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Publications associées (32)

The time course of serial dependence: an interplay between perceptual decisions and task relevant representations

Michael Herzog, Gizay Ceylan, David Pascucci

In serial dependence (SD), features of a present stimulus are judged as similar to previously presented ones. This bias is often explained by a continuity field (CF) in perception, combining similar stimuli in an extended region of space (∼ 15°) and time ( ...

SAGE Publishing2021

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer

Paul Refinetti, Per Olaf Ekstrom

Primary prostate tumor heterogeneity is poorly understood, leaving research efforts with challenges regarding the initiation and advancement of the disease. The growth of tumor cells is accompanied by mutations in nuclear and in mitochondrial genomes. Thus ...

HINDAWI LTD2020

Trametinib Induces the Stabilization of a Dual GNAQ p.Gly48Leu-and FGFR4 p.Cys172Gly-Mutated Uveal Melanoma. The Role of Molecular Modelling in Personalized Oncology

Olivier Michielin, Alexandre Wicky, Krisztian Homicsko

We report a case of an uveal melanoma patient with GNAQ p.Gly48Leu who responded to MEK inhibition. At the time of the molecular analysis, the pathogenicity of the mutation was unknown. A tridimensional structural analysis showed that G alpha(q) can adopt ...

2020

The DEAD-box RNA helicase CshA is required for fatty acid homeostasis inStaphylococcus aureus

Bianca Marie Petrignani

Staphylococcus aureusis an opportunistic pathogen that can grow in a wide array of conditions: on abiotic surfaces, on the skin, in the nose, in planktonic or biofilm forms and can cause many type of infections. Consequently,S.aureusmust be able to adapt r ...

PUBLIC LIBRARY SCIENCE2020

Direct coupling analysis of epistasis in allosteric materials

Matthieu Wyart, Riccardo Ravasio, Barbara Bravi, Carolina Brito Carvalho dos Santos

In allosteric proteins, the binding of a ligand modifies function at a distant active site. Such allosteric pathways can be used as target for drug design, generating considerable interest in inferring them from sequence alignment data. Currently, differen ...

2020

Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome

Maurizio Molinari, Andrea Cavalli

Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of w ...

2020

FasR Regulates Fatty Acid Biosynthesis and Is Essential for Virulence of Mycobacterium tuberculosis

Stewart Cole, Claudia Sala

Mycobacterium tuberculosis, the etiologic agent of human tuberculosis, is the world's leading cause of death from an infectious disease. One of the main features of this pathogen is the complex and dynamic lipid composition of the cell envelope, which adap ...

Frontiers Media SA2020

3-Dimensional magnetic resonance imaging of the freely moving human eye

Jérôme Yerly, Silvio Ionta, Josefina Adriana Maria Bastiaansen, David Zeugin, João Pedro Forjaco Jorge, Benedetta Franceschiello, Lorenzo Di Sopra

Eye motion is a major confound for magnetic resonance imaging (MRI) in neuroscience or ophthalmology. Currently, solutions toward eye stabilisation include participants fixating or administration of paralytics/anaesthetics. We developed a novel MRI protoco ...

PERGAMON-ELSEVIER SCIENCE LTD2020

Long-lasting feature integration

Leila Drissi Daoudi - Kleinbauer

In the classic model of vision, processing is local, feedforward and hierarchical. The first stages of the visual system are retinotopic, i.e., neighboring points in the outside world are mapped onto neighboring photoreceptors of the retina and this is pre ...

EPFL2020

Eye Thought You Were Sick! Exploring Eye Behaviors for Cybersickness Detection in VR

Ronan Boulic, Nana Tian

Cybersickness induced through Virtual Reality (VR) applications is still one of its main barriers as it can induce unwanted side-effects in players, significantly hindering the overall experience. Despite the wealth of research available on this topic, it ...

ACM2020

Directed evolution of the optoelectronic properties of synthetic nanomaterials

Ardemis Anoush Boghossian, Shang-Jung Wu, Benjamin Paul Johanès Gabriel Lambert, Alice Judith Gillen

Directed evolution is a powerful approach to tailor protein properties toward new or enhanced functions. Herein, we use directed evolution to engineer the optoelectronic properties of DNA-wrapped single-walled carbon nanotube sensors through DNA mutation. ...

Royal Society of Chemistry2019

Analysis of Inherited Optic Neuropathies

Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...

2019

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