Search results for "MUTATIONS"

Spatial and temporal distribution of SARS-CoV-2 diversity circulating in wastewater

2022

Wastewater-based epidemiology (WBE) has proven to be an effective tool for epidemiological surveillance of SARS-CoV-2 during the current COVID-19 pandemic. Furthermore, combining WBE together with high-throughput sequencing techniques can be useful for the analysis of SARS-CoV-2 viral diversity present in a given sample. The present study focuses on the genomic analysis of SARS-CoV-2 in 76 sewage samples collected during the three epidemiological waves that occurred in Spain from 14 wastewater treatment plants distributed throughout the country. The results obtained demonstrate that the metagenomic analysis of SARS-CoV-2 in wastewater allows the detection of mutations that define the B.1.1.…

Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis

2016

Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. The mutations were det…

Wee1 inhibition potentiates Wip1-dependent p53-negative tumor cell death during chemotherapy

2016

AbstractInactivation of p53 found in more than half of human cancers is often associated with increased tumor resistance to anti-cancer therapy. We have previously shown that overexpression of the phosphatase Wip1 in p53-negative tumors sensitizes them to chemotherapeutic agents, while protecting normal tissues from the side effects of anti-cancer treatment. In this study, we decided to search for kinases that prevent Wip1-mediated sensitization of cancer cells, thereby interfering with efficacy of genotoxic anti-cancer drugs. To this end, we performed a flow cytometry-based screening in order to identify kinases that regulated the levels of γH2AX, which were used as readout. Another criter…

Gray code for Cayley permutations

2003

A length-n Cayley permutation p of a total ordered set S is a length-n sequence of elements from S, subject to the condition that if an element x appears in p then all elements y < x also appear in p . In this paper, we give a Gray code list for the set of length-n Cayley permutations. Two successive permutations in this list differ at most in two positions.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

2017

International audience; By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2DNAAF4- HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are…

Etudes d'objets combinatoires : applications à la bio-informatique

2011

This thesis considers classes of combinatorial objects that model data in bioinformatics. We have studied two methods of mutation of genes within the genome : duplication and inversion. At first,we study the problem of the whole mirror duplication-random lossmodel in terms of pattern avoiding permutations. We prove that the class of permutations obtained with this method after p duplications from the identity is the class of permutations avoiding alternating permutations of length 2p + 1.We also enumerate the number of duplications that are necessary and sufficient to obtain any permutation of length n from the identity. We also suggest two efficient algorithms to reconstruct two different …

Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".

2018

Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG) and a markedly increased risk of acute pancreatitis. It is due to the lack of lipoprotein lipase (LPL) function, resulting from recessive loss of function mutations in the genes coding LPL or its modulators. A large overlap in the phenotype between FCS and multifactorial chylomicronaemia syndrome (MCS) contributes to the inconsistency in how patients are diagnosed and managed worldwide, whereas the incidence of acute hypertriglyceridaemic pancreatitis is more frequent in FCS. A panel of Eu…

Éducations, santé et mutations sociales : nouveaux enjeux, nouveaux défis ?

2016

International audience; Cet ouvrage collectif présente les actes de la 5e édition du colloque du Réseau UNIRéSEducations, santé et mutations sociales : nouveaux enjeux, nouveaux défis ?Il réunit diverses contributions écrites ainsi que des retranscriptions de communicationsorales. Certaines sont présentées sous forme de résumé.UNIRéS est un réseau national de formateurs et de chercheurs spécialisé dans l’éducationà la santé, qui oeuvre au sein des Écoles Supérieures du Professorat et de l’Éducation(ESPE) et Académies à la diffusion d’une formation de qualité pour toutes celles et tousceux qui se destinent aux métiers de l’enseignement, et plus largement de l’éducation, dansune perspective d…

Crise du phylloxéra et mutations du paysage

2010

Mutations agricoles, mutations rurales: les transformations de l'agriculture comtoise

1993

L'agriculture comtoise change. Depuis les années soixante elle s'est profondément modifiée, restructurée, recomposée. Sous l'effet des politiques agricoles successives et des progrès techniques, les conditions de vie et de production ont considérablement changé dans les exploitations. C'est une agriculture moderne qui se met en place, une agriculture "sans paysans" pourrait-on dire, tant ses effectifs sont modestes dans les campagnes d'aujourd'hui.