Concept

Déficit immunitaire combiné sévère

Publications associées (80)

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Dylan Lawless, Flavia Aurelia Shoko Hodel

While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clinically ...

2019

The NAD-Booster Nicotinamide Riboside Potently Stimulates Hematopoiesis through Increased Mitochondrial Clearance

Johan Auwerx, Matthias Lütolf, Bart Deplancke, Carlos Canto Alvarez, Olaia Maria Naveiras Torres-Quiroga, George Coukos, Aurélien Laurent Jean-Charles Oggier, Loïc Tauzin, Dongryeol Ryu, Eija Riitta Pirinen, Pedro Romero, Vasco Ledebur de Antas de Campos, Mukul Girotra, Joanna Ratajczak, Josefine Catharina Pedersen Tratwal, Nicola Vannini, Pernille Yde Rainer, Gennady Nikitin, Federico Sizzano, Simone Ragusa, Vincent Trachsel, Sonja Giger, Shanti Rojas-Sutterlin, Yannick Lionel Yersin, Martin Ehrbar

It has been recently shown that increased oxidative phosphorylation, as reflected by increased mitochondrial activity, together with impairment of the mitochondrial stress response, can severely compromise hematopoietic stem cell (HSC) regeneration. Here w ...

CELL PRESS2019

The metabolite BH4 controls T cell proliferation in autoimmunity and cancer

Kai Johnsson

Genetic regulators and environmental stimuli modulate T cell activation in autoimmunity and cancer. The enzyme co-factor tetrahydrobiopterin (BH4) is involved in the production of monoamine neurotransmitters, the generation of nitric oxide, and pain(1,2). ...

NATURE PUBLISHING GROUP2018

Immunoengineering with biomaterials for enhanced cancer immunotherapy

Li Tang, Lixia Wei, Yuqing Xie

Cancer immunotherapy has recently shown dramatic clinical success inducing durable response in patients of a wide variety of malignancies. Further improvement of the clinical outcome with immune related cancer treatment requests more exquisite manipulation ...

2018

HIV-1 Vpr and p21 restrict LINE-1 mobility

Didier Trono, Priscilla Turelli, Flavia Marzetta

Long interspersed element-1 (LINE-1, L1) composes ∼17% of the human genome. However, genetic interactions between L1 and human immunodeficiency virus type 1 (HIV-1) remain poorly understood. In this study, we found that HIV-1 suppresses L1 retrotranspositi ...

2018

Programmable Constant-Force Multistable Mechanisms

Simon Nessim Henein, Mohamed Gamal Abdelrahman Ahmed Zanaty

Programmable multistable mechanisms exhibit stability behavior whereby the stiffness and the number of stable states can be controlled via programming inputs. In this paper, we report the zero stiffness behavior of a 2-degree of programming (DOP) T-combine ...

AMER SOC MECHANICAL ENGINEERS2018

Impedance Spectroscopy for Single Cell Analysis and Dispensing

David Vincent Bonzon

Flow cytometry is an essential tool in biology and medicine with applications in immunodeficiency diagnostic, immunosurveillence, organ transplantation in addition to its basic research usage. Before the widespread use of the Fluorescent-Activated Cell Sor ...

EPFL2017

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Béatrice Kunz, Alessandra Piersigilli, Julie Deuquet Ariosa, Jérôme Bürgi

Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and ...

Springer Nature2017

Single particle maximum likelihood reconstruction from superresolution microscopy images

Suliana Manley, Julia Gunzenhäuser

Point localization superresolution microscopy enables fluorescently tagged molecules to be imaged beyond the optical diffraction limit, reaching single molecule localization precisions down to a few nanometers. For small objects whose sizes are few times t ...

2017

Evaluating the Impact of Functional Genetic Variation on HIV-1 Control

Jacques Fellay, Istvan Bartha

Previous genetic association studies of human immunodeficiency virus-1 (HIV-1) progression have focused on common human genetic variation ascertained through genome-wide genotyping. ...

Oxford Univ Press Inc2017

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