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HMCan-diff: a method to detect changes in histone modifications in cells with different genetic characteristics PDF available through Get Fulltext Research

Ashoor, Haitham Louis-Brennetot, Caroline Janoueix-Lerosey, Isabelle Bajic, Vladimir B. Valentina Boeva

Published in Nucleic Acids Research

Comparing histone modification profiles between cancer and normal states, or across different tumor samples, can provide insights into understanding cancer initiation, progression and response to therapy. ChIP-seq histone modification data of cancer samples are distorted by copy number variation innate to any cancer cell. We present HMCan-diff, the...

Postoperative Complications after Ileocecal Resection in Crohn's Disease: A Prospective Study From the REMIND Group

Fumery, Mathurin Seksik, Philippe Auzolle, Claire Munoz-Bongrand, Nicolas Gornet, Jean-Marc Boschetti, Gilles Cotte, Eddy Buisson, Anthony Dubois, Anne Pariente, Benjamin ...

Published in The American Journal of Gastroenterology

Objectives: We sought to determine the frequency of and risk factors for early (30-day) postoperative complications after ileocecal resection in a well-characterized, prospective cohort of Crohn's disease patients. Methods: The REMIND group performed a nationwide study in 9 French university medical centers. Clinical-, biological-, surgical-, an...

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders PDF available through Get Fulltext Research

Lorenz, Carmen Lesimple, Pierre Bukowiecki, Raul Zink, Annika Inak, Gizem Mlody, Barbara Singh, Manvendra Semtner, Marcus Mah, Nancy Auré, Karine ...

Published in Cell Stem Cell

Mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases. Modeling of these defects has been difficult because of the challenges associated with engineering mtDNA. We show here that neural progenitor cells (NPCs) derived from human induced pluripotent stem cells (iPSCs) retain the parental mtDNA profile and exhibit a metabolic swi...

Carbon monoxide reverses the metabolic adaptation of microglia cells to an inflammatory stimulus

Wilson, Jayne Louise Frédéric Bouillaud Almeida, Ana S. Vieira, Helena L. Ouidja, Mohand Ouidir Dubois-Randé, Jean-Luc Foresti, Roberta Motterlini, Roberto

Published in Free Radical Biology and Medicine

Microglia fulfill important immunological functions in the brain by responding to pathological stresses and modulating their activities according to pro- or anti-inflammatory stimuli. Recent evidence indicates that changes in metabolism accompany the switch in microglia activation state, favoring glycolysis over oxidative phosphorylation when cells...

HK2 Recruitment to Phospho-BAD Prevents Its Degradation, Promoting Warburg Glycolysis by Theileria-Transformed Leukocyte...

Haidar, Malak Anne Lombes Frédéric Bouillaud Kennedy, Eileen J. Gordon Langsley

Published in ACS Infectious Diseases

Theileria annulata infects bovine leukocytes, transforming them into invasive, cancer-like cells that cause the widespread disease called tropical theileriosis. We report that in Theileria-transformed leukocytes hexokinase-2 (HK2) binds to B cell lymphoma-2-associated death promoter (BAD) only when serine (S) 155 in BAD is phosphorylated. We show t...

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe sk...

Barraza-García, J. Rivera-Pedroza, C.I. Hisado-Oliva, A. Belinchón-Martínez, A. Sentchordi-Montané, L. Duncan, E.L. Clark, G.R. del Pozo, A. Ibáñez-Garikano, K. Offiah, A. ...

Published in Clinical Genetics

Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP mutations have been reported in individuals with...

Spherocytic shift of red blood cells during storage provides a quantitative whole cell-based marker of the storage lesio...

Roussel, Camille Dussiot, Michaël Marin, Mickaël Morel, Alexandre Ndour, Papa Alioune Duez, Julien Caroline Le Van Kim Olivier Hermine Colin, Yves A. Buffet P, ...

Published in Transfusion

Background: Storage lesion may explain the rapid clearance of up to 25% of transfused red blood cells (RBCs) in recipients. Several alterations affect stored RBC but a quantitative, whole cell-based predictor of transfusion yield is lacking. Because RBCs with reduced surface area are retained by the spleen, we quantified changes in RBC dimensions d...

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing... PDF available through Get Fulltext Research

Bahi-Buisson, Nadia Barbarot, Sébastien Baujat, Geneviève Bessis, Didier Boccara, Olivia Bonnière, Maryse Boute, Odile Bursztejn, Anne-Claire Chiaverini, Christine Valérie Cormier-Daire ...

Published in Genetics in Medicine

Purpose: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. Methods: We performed ultradeep next-generation sequencing (NGS) of PIK3CA in various tissues from 162...

MAFB Determines Human Macrophage Anti-Inflammatory Polarization: Relevance for the Pathogenic Mechanisms Operating in Mu...

Cuevas, Víctor D. Anta, Laura Samaniego, Rafael Orta-Zavalza, Emmanuel Vladimir de la Rosa, Juan Baujat, Geneviève Domínguez-Soto, Ángeles Sánchez-Mateos, Paloma Escribese, María M. Castrillo, Antonio ...

Published in The Journal of Immunology

Macrophage phenotypic and functional heterogeneity derives from tissue-specific transcriptional signatures shaped by the local microenvironment. Most studies addressing the molecular basis for macrophage heterogeneity have focused on murine cells, whereas the factors controlling the functional specialization of human macrophages are less known. M-C...

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals in... PDF available through Get Fulltext Research

Benito-Sanz, Sara Belinchon-Martínez, Alberta Aza-Carmona, Miriam de la Torre, Carolina Huber, Celine González-Casado, Isabel Ross, Judith L Thomas, N Simon Zinn, Andrew R Valérie Cormier-Daire ...

Published in Journal of Human Genetics

Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Léri-Weill dyschondrosteosis (LWD) and L...

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