Search results for "MUTATION"

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

2017

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, an…

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 …

Résistance aux inhibiteurs de l'ALS: gare aux dicots ! Après le coquelicot et les matricaires, la stellaire fait de la résistance

2012

SPE GEAPSI

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…

Interactions in the network of Usher syndrome type 1 proteins

2004

International audience; Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1). Mouse mutants for all these proteins exhibit disorganization of their hair bundle, which is the mechanotransduction receptive structure of the inner ear sensory cells, the cochlear and vestibular hair cells. We have previously demonstrated that harmonin interacts with cadherin 23 and myosin VIIa. Here we address the extent of interactions between the five known USH1 proteins. We establish the previously suggested sans-harmonin interaction and find that sans also binds to myosin VIIa. We …

Cyclopropane Fatty Acid Synthase from Oenococcus oeni: Expression in Lactococcus lactis subsp. Cremoris and Biochemical Characterization

2015

Bacterial cyclopropane fatty acid synthases (CFA synthases) catalyze the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to the double bond of a lipid chain, thereby forming a cyclopropane ring. CFAs contribute to resistance to acidity, dryness, and osmotic imbalance in many bacteria. This work describes the first biochemical characterization of a lactic acid bacterium CFA synthase. We have overexpressed Oenococcus oeni CFA synthase in E. coli in order to purify the enzyme. The optimum cyclopropanation activity was obtained at pH 5.6 and 35.8 °C. The high K(m) (AdoMet) value obtained (2.26 mM) demonstrates the low affinity of O. oeni enzyme toward the L. lactis subsp. cremo…

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…

Le poids du barème dans la mutation sur demande

1996

International audience

Crise du phylloxéra et mutations du paysage

2010