Javier Perea

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families

Maëva Veyssière, Javier Perea, Laëtitia Michou, Anne Boland et autres

The triggering and development of Rheumatoid Arthritis (RA) is conditioned by environmental and genetic factors. Despite the identification of more than one hundred genetic variants associated with the disease, not all the cases can be explained. Here, we performed Whole Exome Sequencing …

fr, ca (code pays fourni par la source)

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families

Maëva Veyssière, Javier Perea, Laëtitia Michou, Anne Boland et autres

Abstract The triggering and development of Rheumatoid Arthritis (RA) is conditioned by environmental and genetic factors. Despite the identification of more than one hundred genetic variants associated with the disease, not all the cases can be explained. Here, we performed Whole Exome …

fr, ca (code pays fourni par la source)

Aggregation of rare family-specific variants associated with Rheumatoid Arthritis Journées Ouvertes de Biologie Informatique et Mathématique : JOBIM 2018 (Marseille, France, 03-06 July, 2018) (p.138-141). Available on : https://jobim2018.sciencesconf.org/data/pages/Book_JOBIM2018_V_4.pdf

Maëva Veyssière, Javier Perea, Laëtitia Michou, A. Boland et autres

International audience

fr (code pays fourni par la source)

Characterization of copy number variants for CCL3L1 gene in rheumatoid arthritis for French trio families and Tunisian cases and controls

Mohamed Sahbi Ben Kilani, Yosser Achour, Javier Perea, François Cornélis et autres

fr, Tunisie (code pays fourni par la source)

Javier Perea: Presidente de Empresarios Agrupados

Javier Perea

Bases moleculares de las hemoglobinopatías

Carmen Carrillo Pérez, Omar González, Javier Perea

Intel Security: aprender del pasado, vivir el presente, crear el futuro

Javier Perea

La propuesta de Intel Security pasa por la creacion y adopcion de un nuevo estandar, una Nueva Generacion de Arquitectura de Seguridad, abierta, que permita a los distintos controles -ya sean de sistemas ya de redes, ubicados in situ o en la …

The Brown Algae Pl.LSU/2 Group II Intron-Encoded Protein Has Functional Reverse Transcriptase and Maturase Activities

Madeleine Zerbato, Nathalie Holic, Sophie Moniot-Frin, Dina Ingrao et autres

Group II introns are self-splicing mobile elements found in prokaryotes and eukaryotic organelles. These introns propagate by homing into precise genomic locations, following assembly of a ribonucleoprotein complex containing the intron-encoded protein (IEP) and the spliced intron RNA. Engineered group II introns …

fr (code pays fourni par la source)

Quantification of lentiviral vector copy numbers in individual hematopoietic colony-forming cells shows vector dose-dependent effects on the frequency and level of transduction

Sabine Charrier, Marina Ferrand, Madeleine Zerbato, Guillaume Précigout et autres

Lentiviral vectors are effective tools for gene transfer and integrate variable numbers of proviral DNA copies in variable proportions of cells. The levels of transduction of a cellular population may therefore depend upon experimental parameters affecting the frequency and/or the distribution of …

fr (code pays fourni par la source)

Diverse genomic integration of a lentiviral vector developed for the treatment of Wiskott–Aldrich syndrome

Julie Mantovani, Sabine Charrier, Ralph Eckenberg, William Saurin et autres

BACKGROUND: The genomic integration of a lentiviral vector developed for the treatment of Wiskott-Aldrich syndrome (WAS) was assessed by localizing the vector insertion sites (IS) in a murine model of gene therapy for the disease. METHODS: Transduced hematopoietic progenitor cells were transplanted …

fr, ca (code pays fourni par la source)

Correlated photon-pair emission from pulse-pumped quantum dots embedded in a microcavity

Javier Perea, Filippo Troiani, C. Tejedor

es (code pays fourni par la source)

Molecular characterization of the--SEA alpha thalassemia allele in Mexican patients with HbH disease.

María Paulina Nava, Jorge Martín Trejo, Carlos Aguilar‐Luna, Patricio Barros‐Núñez et autres

Alpha-Thalassemia is one of the most prevalent hemoglobin disorders in the world, in South-East Asians, the --SEA allele is widely found in the HbH disease patients. The purpose of this work is to describe the molecular characteristics of Hemoglobin H disease in …

mx (code pays fourni par la source)