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Maxime Lamontagne, Jean-Christophe Bérubé, Ma'en Obeidat, Michael H Cho, Brian D Hobbs, Phuwanat Sakornsakolpat, Kim de Jong, H Marike Boezen, David Nickle, Ke Hao, Wim Timens, Maarten van den Berge, Philippe Joubert, Michel Laviolette, Don D Sin, Peter D Paré, Yohan Bossé
Causal genes of chronic obstructive pulmonary disease (COPD) remain elusive. The current study aims at integrating genome-wide association studies (GWAS) and lung expression quantitative loci (eQTL) data to map COPD candidate causal genes and gain biological insights into the recently discovered COPD susceptibility loci. Two complementary genomic datasets on COPD were studied. First, the lung eQTL dataset which included whole-genome gene expression and genotyping data from 1,038 individuals. Second, the largest COPD GWAS to date from the International COPD Genetics Consortium (ICGC) with 13,710 cases and 38,062 controls...
March 14, 2018: Human Molecular Genetics
Dustin P Joubert, Jorge Z Granados, Jonathan M Oliver, Bethany L Noack, Peter W Grandjean, Christopher R Woodman, Steven E Riechman, Stephen F Crouse
OBJECTIVE: The purpose of the study was to compare acute bouts of aquatic treadmill (ATM) and land treadmill (LTM) exercise on flow-mediated dilation (FMD), post-exercise blood pressure (BP), plasma nitrate/nitrite (PN), and atrial natriuretic peptide (ANP) in untrained, pre-hypertensive men. DESIGN: In a counterbalanced, crossover design, 19 untrained, pre-hypertensive men completed bouts of ATM and LTM on separate days. FMD was measured pre-exercise and 1-hour post-exercise...
March 15, 2018: American Journal of Physical Medicine & Rehabilitation
Adrien Gauthier, Sophie Trouvelot, Jani Kelloniemi, Patrick Frettinger, David Wendehenne, Xavier Daire, Jean-Marie Joubert, Alberto Ferrarini, Massimo Delledonne, Victor Flors, Benoit Poinssot
[This corrects the article DOI: 10.1371/journal.pone.0088145.].
2018: PloS One
Lisa Repsold, Anna Margaretha Joubert
Erythrocytes play an important role in oxygen and carbon dioxide transport. Although erythrocytes possess no nucleus or mitochondria, they fulfil several metabolic activities namely, the Embden-Meyerhof pathway, as well as the hexose monophosphate shunt. Metabolic processes within the erythrocyte contribute to the morphology/shape of the cell and important constituents are being kept in an active, reduced form. Erythrocytes undergo a form of suicidal cell death called eryptosis. Eryptosis results from a wide variety of contributors including hyperosmolarity, oxidative stress, and exposure to xenobiotics...
2018: BioMed Research International
M K Fehrenbach, U Nestler, J Meixensberger, M K Bernhard, A Merkenschlager, S Weise, M Krause
INTRODUCTION: The ciliopathy "Joubert syndrome" was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and retardation. A pathognomonic midbrain-hindbrain malformation, the molar tooth sign, can be found on magnetic resonance imaging of the brainstem. There are a little more than 200 reports of Joubert syndrome in the literature...
March 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Karina Krajden Haratz, Sharon Leshem Shulevitz, Zvi Leibovitz, Dorit Lev, Shalev Josef, Mordechai Tomarkin, Gustavo Malinger, Tally Lerman-Sagie, Liat Gindes
OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain malformations rely primarily on abnormal size and shape of the cerebellum and retrocerebellar space. The aim of this study was to present the 4th ventricle index (4VI), and to evaluate its role as a marker of severe vermian dysgenesis / agenesis cases without an open 4th ventricle (4v). METHODS: This prospective cross-sectional study included 384 healthy fetuses between 14 to 37 gestational weeks. Axial images of the 4v were obtained and the 4VI was calculated as the ratio between the latero-lateral and anteroposterior diameters...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Holly M Mortensen, John Chamberlin, Bonnie Joubert, Michelle Angrish, Nisha Sipes, Janice S Lee, Susan Y Euling
Estimation of susceptibility differences in human health risk assessment (HHRA) has been challenged by a lack of available susceptibility and variability data after exposure to a specific environmental chemical or pharmaceutical. With the increasingly large number of available data sources that contain polymorphism and other genetic data, human genetic variability that informs susceptibility can be better incorporated into HHRA. A recent policy, the 2016 The Frank R. Lautenberg Chemical Safety for the twenty-first Century Act, requires the US Environmental Protection Agency to evaluate new and existing toxic chemicals with explicit consideration of susceptible populations of all types (life stage, exposure, genetic, etc...
February 23, 2018: Mammalian Genome: Official Journal of the International Mammalian Genome Society
Francesca Bryden, Camille Martin, Stéphanie Letast, Eva Lles, Inmaculada Viéitez-Villemin, Anaïs Rousseau, Cyril Colas, Marie Brachet-Botineau, Emilie Allard-Vannier, Christel Larbouret, Marie-Claude Viaud-Massuard, Nicolas Joubert
Herein we describe the synthesis and evaluation of four novel HER2-targeting, cathepsin B-sensitive antibody-drug conjugates bearing a monomethylauristatin E (MMAE) cytotoxic payload, constructed via the conjugation of cleavable linkers to trastuzumab using a site-specific bioconjugation methodology. These linkers vary by both cleavable trigger motif and hydrophilicity, containing one of two cathepsin B sensitive dipeptides (Val-Cit and Val-Ala), and engendered with either hydrophilic or hydrophobic character via application of a PEG12 spacer...
February 23, 2018: Organic & Biomolecular Chemistry
Elisabetta Marangoni, Cécile Laurent, Florence Coussy, Rania El Botty, Sophie Chateau-Joubert, Jean-Luc Servely, Ludmilla de Plater, Franck Assayag, Ahmed Dahmani, Elodie Montaudon, Fariba Némati, Justine Fleury, Sophie Vacher, David Gentien, Audrey Rapinat, Pierre Foidart, Nor Eddine Sounni, Agnès Noël, Anne Salomon, Marick Lae, Didier Decaudin, Sergio Roman-Roman, Ivan Bièche, Martine Piccard, Fabien Reyal
PURPOSE: triple-negative breast cancer (TNBC) patients with residual disease after neoadjuvant chemotherapy have a poor outcome. We developed patient-derived xenografts (PDX) from residual tumors to identify efficient chemotherapies and predictive biomarkers in a context of resistance to anthracyclines and taxanes-based treatments. EXPERIMENTAL DESIGN: PDX were established from residual tumors of primary breast cancer patients treated in neoadjuvant setting. TNBC PDX were treated by anthracyclines, taxanes, platins and capecitabine...
February 20, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Katie Weihbrecht, Wesley A Goar, Thomas Pak, Janelle E Garrison, Adam P DeLuca, Edwin M Stone, Todd E Scheetz, Val C Sheffield
Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone dystrophy with early macular involvement. BBS is an autosomal recessive, genetically heterogeneous, pleiotropic ciliopathy for which 21 causative genes have been discovered to date. In addition to retinal degeneration, the cardinal features of BBS include obesity, cognitive impairment, renal anomalies, polydactyly, and hypogonadism. Here, we review the genes, proteins, and protein complexes involved in BBS and the BBS model organisms available for the study of retinal degeneration...
September 2017: Medical Research Archives
Parveen Bhardwaj, Minoo Sharma, Karan Ahluwalia
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.
January 2018: Journal of Neurosciences in Rural Practice
Dongkai Guo, Shun Zhang, Hongyang Sun, Xingyun Xu, Zongbing Hao, Chenchen Mu, Xingshun Xu, Guanghui Wang, Haigang Ren
Abelson helper integration site 1 (AHI1) is associated with several neuropsychiatric and brain developmental disorders such as schizophrenia, depression, autism, and Joubert syndrome. Ahi1 deficiency in mice leads to behaviors typical of depression. However, the mechanisms by which AHI1 regulates behavior remain to be elucidated. Here, we found that down-regulation of expression of the rate-limiting enzyme in dopamine biosynthesis, tyrosine hydroxylase (TH), in the midbrains of Ahi1 -knockout (KO) mice is responsible for Ahi1 -deficiency-mediated depressive symptoms...
February 15, 2018: Journal of Biological Chemistry
N Stieger, A Joubert, W Liebenberg
Water and water vapor are the bane of amorphous drug stability, both in storage and after administration. As is to be expected, crystallization of amorphous azithromycin did occur when exposed to water as dissolution medium. However, experimental results showed that, although solution-mediated phase transformation had occurred, it was not a rapid process for this drug. It is considered to be an advantageous characteristic of amorphous azithromycin and likely due to the high molecular mass (748.984 g/mol) and complex structure necessitating more energy for transformations to occur...
August 1, 2017: Die Pharmazie
B A Smit, E Van Zyl, J J Joubert, W Meyer, S Prévéral, C T Lefèvre, S N Venter
Magnetotactic bacteria (MTB) have the unique ability to produce magnetic particles surrounded by a biomembrane to form the magnetosome organelle. Therefore, MTB have novel physical and magnetic properties and have consequently been used in several biotechnological applications. The magnetic properties of these microorganisms and their magnetosomes have, however, never been used for the generation of electricity as described in this letter. Comparisons were made between, firstly, the electricity generated from purified magnetosomes, MTB culture (bacterial cells with magnetosomes) and sterile, liquid growth medium (control)...
February 12, 2018: Letters in Applied Microbiology
Jenna Johnston, Catherine Orrell, Peter Smith, Anton Joubert, Lubbe Wiesner
RATIONALE: Drug levels in hair provide a longer window of detection, compared to plasma drug levels, and therefore hair analysis has the advantage of assessing adherence over a longer period of time. No methods for the analysis of antiretroviral drugs in hair currently exist in South Africa, and worldwide there is only one validated method for the determination of efavirenz in hair that has been published. METHODS: Efavirenz was extracted from 0.2 mg of hair through a simultaneous pulverization and extraction step...
February 8, 2018: Rapid Communications in Mass Spectrometry: RCM
Sonia Marcone, Jean-François Gagnon, Catherine Desjardins, Annie-Claude David, Ronald B Postuma, Jacques Montplaisir, Sven Joubert, Isabelle Rouleau
OBJECTIVE: The ability to execute delayed intentions, known as prospective memory (PM), is crucial to everyday living. PM failures are reported in mild cognitive impairment (MCI) and Parkinson's disease, however, no study to date has investigated PM functioning in individuals at high risk of developing these conditions, precisely those diagnosed with idiopathic REM sleep behavior disorder (iRBD). We aimed to assess PM in iRBD according to patients' cognitive status and to determine the underlying nature of their difficulties...
February 7, 2018: Clinical Neuropsychologist
Andrea Bonvicini, Laure Guilhaudis, Vincent Tognetti, Didier Desmaële, Nathalie Sauvonnet, Hassan Oulyadi, Laurent Joubert
Cholesterol is doubtless one of the most studied bio-molecules, which unfortunately features low emitting properties, precluding its in vivo study by fluorescence experiments. The design of fluorescent analogues of cholesterol is thus an appealing challenge in biochemistry, which simultaneously requires minor changes in its chemical structure (to retain main biological properties) and considerable enhancement of light emission. To this aim, the photochemical behaviour of the native molecule has to be deeply understood...
February 6, 2018: Physical Chemistry Chemical Physics: PCCP
Ashwani Sharma, Samuel F Gerard, Natacha Olieric, Michel O Steinmetz
Centrioles are microtubule-based structures that play essential roles in cell division and cilia biogenesis. Cep120 is an important protein for correct centriole formation and mutations in the Cep120 gene cause severe human diseases like Joubert syndrome and complex ciliopathies. Here, we show that Cep120 contains three consecutive C2 domains that are followed by a coiled-coil dimerization domain. Surprisingly, unlike the classical C2 domains, all three Cep120 C2 domains lack calcium- and phospholipid-binding activities...
February 1, 2018: Journal of Structural Biology
Irene Ojeda Naharros, Flavia B Cristian, Jingjing Zang, Matthias Gesemann, Philip W Ingham, Stephan C F Neuhauss, Ruxandra Bachmann-Gagescu
Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in signal transduction. Cilia are anchored inside the cell through basal bodies (BBs), modified centrioles also acting as microtubule-organization centers. Photoreceptors (PRs) are sensory neurons, whose primary cilium forms a highly specialized compartment called the outer segment (OS) responsible for sensing incoming light. Thus, ciliopathies often present with retinal degeneration. Mutations in KIAA0586/TALPID3 (TA3) cause Joubert syndrome, in which 30% of affected individuals develop retinal involvement...
February 2, 2018: Scientific Reports
Isabelle Jalenques, Candy Guiguet-Auclair, Philippe Derost, Pauline Joubert, Louis Foures, Andreas Hartmann, Julia Muellner, Fabien Rondepierre
INTRODUCTION: The Motor tic, Obsessions and compulsions, Vocal tic Evaluation Survey (MOVES) is a self-report scale suggested as a severity scale for tics and related sensory phenomena observed in Gilles de la Tourette syndrome (GTS) and recommended as a screening instrument by the Committee on Rating Scale Development of the International Parkinson's Disease and Movement Disorder Society. OBJECTIVES: To cross-culturally adapt a French version of the MOVES and to evaluate its psychometric properties...
February 1, 2018: Journal of Neurology
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