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https://www.readbyqxmd.com/read/29334628/production-and-characterization-of-human-induced-pluripotent-stem-cells-ipscs-from-joubert-syndrome-cssi001-a-2850
#1
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29331843/performance-of-genotypic-algorithms-for-predicting-tropism-for-hiv-1-crf01_ae-recombinant
#2
C Soulie, L Morand-Joubert, J Cottalorda, C Charpentier, P Bellecave, L Le Guen, S Yerly, B Montes, S Fafi-Kremer, J Dina, V Avettand-Fenoel, C Amiel, C Roussel, C Pallier, K Zafilaza, S Sayon, A Signori-Schmuck, A Mirand, M A Trabaud, S Berger, V Calvez, A G Marcelin
OBJECTIVES: There is no consensus about the performances of genotypic rules for predicting HIV-1 non-B subtype tropism. Three genotypic methods were compared for CRF01_AE HIV-1 tropism determination. METHODS: The V3 env region of 207 HIV-1 CRF01_AE and 178 B subtypes from 17 centers in France and 1 center in Switzerland was sequenced. Tropism was determined by Geno2Pheno algorithm with false positive rate (FPR) 5% or 10%, the 11/25 rule or the combined criteria of the 11/25, net charge rule and NXT/S mutations...
January 8, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29321670/clinical-and-experimental-evidence-suggest-a-link-between-kif7-and-c5orf42-related-ciliopathies-through-sonic-hedgehog-signaling
#3
Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson, Orly Elpeleg, Tim M Strom, Pascal Joset, Dunja Niedrist, Christine Otte, Beatrice Oneda, Paranchai Boonsawat, Silvia Azzarello-Burri, Deborah Bartholdi, Michael Papik, Markus Zweier, Cordula Haas, Arif B Ekici, Alessandra Baumer, Eugen Boltshauser, Katharina Steindl, Michael Nothnagel, Albert Schinzel, Esther T Stoeckli, Anita Rauch
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis. To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients with the aforementioned overlapping craniofacial appearance but variable additional ciliopathy features followed by functional studies...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29315105/kitesurfing-and-cranial-trauma-with-frontal-sinus-fracture
#4
Jean-Baptiste Morvan, Damien Rivière, Loraine Vatin, Christophe Joubert, Francois Bousquet, Olivier Cathelinaud
No abstract text is available yet for this article.
January 2018: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/29310866/initial-clinical-presentation-of-young-children-with-n-methyl-d-aspartate-receptor-encephalitis
#5
Marion Favier, Bastien Joubert, Géraldine Picard, Véronique Rogemond, Laure Thomas, Sylvain Rheims, Marion Bailhache, Frédéric Villega, Jean-Michel Pédespan, Giulia Berzero, Dimitri Psimaras, Jean-Christophe Antoine, Virginie Desestret, Jérôme Honnorat
Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients...
December 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29303027/does-experiential-avoidance-mediate-the-relationship-between-gender-role-conflict-and-psychological-distress
#6
Jason S Spendelow, H Eli Joubert
Psychological inflexibility or experiential avoidance (EA) is an important construct in the understanding of psychological distress. Both EA and many forms of masculinity can be characterized by inflexibility in men's responses to negative intrapersonal experiences. The current cross-sectional, community-based study investigated whether experiential avoidance mediated the relationship between gender role conflict (GRC) and psychological distress (PD). A total of 120 men ( M = 35.63, SD = 12.22) completed an online questionnaire measuring key study variables...
December 1, 2017: American Journal of Men's Health
https://www.readbyqxmd.com/read/29297600/a-unique-3-2-annulation-reaction-between-meldrum-s-acid-and-nitrones-mechanistic-insight-by-esi-ims-ms-and-dft-studies
#7
Nicolas Lespes, Etienne Pair, Clisy Maganga, Marie Bretier, Vincent Tognetti, Laurent Joubert, Vincent Levacher, Marie Hubert-Roux, Carlos Afonso, Corinne Loutelier-Bourhis, Jean-François Brière
The fragile intermediates of the domino process leading to isoxazolidin-5-one, triggered by the unique reactivity between Meldrum's acid and N-Bn nitrone in the presence of a Brønsted base, were determined thanks to the softness and accuracy of electrospray ionization mass spectrometry coupled to ion mobility spectrometry (ESI-IMS-MS). The combined DFT study shed light on the overall organocatalytic sequence, which starts by a stepwise (3+2) annulation reaction followed by a decarboxylative protonation sequence encompassing a stereoselective pathway issue...
January 3, 2018: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29281629/loss-of-function-of-the-ciliopathy-protein-cc2d2a-disorganizes-the-vesicle-fusion-machinery-at-the-periciliary-membrane-and-indirectly-affects-rab8-trafficking-in-zebrafish-photoreceptors
#8
Irene Ojeda Naharros, Matthias Gesemann, José M Mateos, Gery Barmettler, Austin Forbes, Urs Ziegler, Stephan C F Neuhauss, Ruxandra Bachmann-Gagescu
Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of environmental signals such as light sensation in photoreceptors. Concentration of signal detection proteins such as opsins in the ciliary membrane is achieved by RabGTPase-regulated polarized vesicle trafficking and by a selective barrier at the ciliary base, the transition zone (TZ). Dysfunction of the TZ protein CC2D2A causes Joubert/Meckel syndromes in humans and loss of ciliary protein localization in animal models, including opsins in retinal photoreceptors...
December 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29246532/an-e-health-interactive-self-assessment-website-sanoia%C3%A2-in-rheumatoid-arthritis-a-12-month-randomized-controlled-trial-in-320-patients
#9
Laure Gossec, Alain Cantagrel, Martin Soubrier, Jean-Marie Berthelot, Jean-Michel Joubert, Bernard Combe, Wienia Czarlewski, Daniel Wendling, Emmanuelle Dernis, Laurent Grange, Catherine Beauvais, Aleth Perdriger, Henri Nataf, Maxime Dougados, Hervé Servy
INTRODUCTION: Sanoia is an online interactive electronic e-health platform developed to allow patient self-assessment and self-monitoring. The objective was to assess in rheumatoid arthritis (RA) patients, the efficacy on patient-physician interactions, of giving access to Sanoia. METHODS: In this French, multi-center, 12-months randomized controlled trial (CarNET: NCT02200068), patients with RA and internet access were randomized to: access without incentives to the Sanoia platform after minimal training, or usual care...
December 12, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29244143/impact-of-hiv-1-minority-variants-on-the-virus-response-to-a-rilpivirine-based-first-line-regimen
#10
Stéphanie Raymond, Florence Nicot, Coralie Pallier, Pantxika Bellecave, Anne Maillard, Mary Anne Trabaud, Laurence Morand-Joubert, Audrey Rodallec, Corinne Amiel, Thomas Mourez, Laurence Bocket, Agnès Beby-Defaux, Magali Bouvier-Alias, Sidonie Lambert-Niclot, Charlotte Charpentier, Brice Malve, Audrey Mirand, Julia Dina, Hélène Le Guillou-Guillemette, Stéphanie Marque-Juillet, Anne Signori-Schmuck, Francis Barin, Ali Si-Mohamed, Véronique Avettand Fenoel, Catherine Roussel, Vincent Calvez, Karine Saune, Anne Geneviève Marcelin, Christophe Rodriguez, Diane Descamps, Jacques Izopet
Background: Minority resistant variants of HIV-1 could influence the virological response to treatment based on non-nucleoside reverse transcriptase (RT) inhibitors. Data on minority rilpivirine-resistant variants are scarce. This study used next-generation sequencing (NGS) to identify patients harbouring minority resistant variants to nucleos(t)ide and non-nucleoside RT inhibitors and to assess their influence on the virological response (VR). Methods: All the subjects, 541 HIV-1-infected patients being treated at 24 French virology laboratories, started their first line regimen containing rilpivirine between 2012 and 2015...
December 13, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29243364/perceived-needs-of-carers-of-people-with-psychosis-an-australian-longitudinal-population-based-study-of-caregivers-of-people-with-psychotic-disorders
#11
Abner Weng Cheong Poon, Lynette Joubert, Carol Harvey
Studies have documented the perceived needs of carers of people with psychosis but most recruitment has utilised convenience sampling resulting in limited understanding of carers' needs. This longitudinal study was conducted within the second Australian prevalence study of psychosis, aiming to obtain generalisable findings regarding perceived needs of carers of people with psychosis. Semi-structured interviews were conducted with 98 carers of people with psychosis recruited in the Australian prevalence study of psychosis...
December 15, 2017: Health & Social Care in the Community
https://www.readbyqxmd.com/read/29242781/ima-genome-f-8-draft-genome-of-cercospora-zeina-fusarium-pininemorale-hawksworthiomyces-lignivorus-huntiella-decipiens-and-ophiostoma-ips
#12
Brenda D Wingfield, Dave K Berger, Emma T Steenkamp, Hye-Jin Lim, Tuan A Duong, Burton H Bluhm, Z Wilhelm de Beer, Lieschen De Vos, G Fourie, Kershney Naidoo, Nicky Olivier, Yao-Cheng Lin, Yves Van de Peer, Fourie Joubert, Bridget G Crampton, Velushka Swart, Nicole Soal, Catherine Tatham, Magriet A van der Nest, Nicolaas A van der Merwe, Stephanie van Wyk, P Markus Wilken, Michael J Wingfield
The genomes of Cercospora zeina, Fusarium pininemorale, Hawksworthiomyces lignivorus, Huntiella decipiens, and Ophiostoma ips are presented in this genome announcement. Three of these genomes are from plant pathogens and otherwise economically important fungal species. Fusarium pininemorale and H. decipiens are not known to cause significant disease but are closely related to species of economic importance. The genome sizes range from 25.99 Mb in the case of O. ips to 4.82 Mb for H. lignivorus. These genomes include the first reports of a genome from the genus Hawksworthiomyces...
December 2017: IMA Fungus
https://www.readbyqxmd.com/read/29239690/antibody-drug-conjugates-design-and-development-for-therapy-and-imaging-in-and-beyond-cancer-labex-mabimprove-industrial-workshop-july-27-28-2017-tours-france
#13
Camille Martin, Claire Kizlik-Masson, André Pèlegrin, Hervé Watier, Marie-Claude Viaud-Massuard, Nicolas Joubert
The annual "Antibody Industrial Symposium", co organized by LabEx MAbImprove, MabDesign and Polepharma, was held in Tours, France on June 27-28, 2017. The focus was on antibody-drug-conjugates (ADCs), new entities which realize the hope of Paul Ehrlich's magic bullet. ADCs result from the bioconjugation of a highly cytotoxic drug to a selective monoclonal antibody, which acts as a vector. Building on knowledge gained during the development of three approved ADCs, brentuximab vedotin (Adcetris®), ado trastuzumab emtansine (Kadcyla®) and inotuzumab ozogamicin (Besponsa®), and the many ADCs in development, this meeting addressed strategies and the latest innovations in the field from fundamental research to manufacturing...
December 14, 2017: MAbs
https://www.readbyqxmd.com/read/29234875/chronic-disease-list-conditions-in-patients-with-rheumatoid-arthritis-in-the-private-healthcare-sector-of-south-africa
#14
Nericke Olivier, Johanita Burger, Rianda Joubert, Martie Lubbe, Adele Naudé, Marike Cockeran
INTRODUCTION: Little is known about the burden of rheumatoid arthritis (RA) in South Africa. The aim of this study was to establish the prevalence of RA and coexisting chronic disease list (CDL) conditions in the private health sector of South Africa. METHODS: A retrospective, cross-sectional analysis was performed on medicine claims data from 1 January 2014 to 31 December 2014 to establish the prevalence of RA. The cohort of RA patients was then divided into those with and those without CDL conditions, to determine the number and type of CDL conditions per patient, stratified by age group and gender...
December 12, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29233967/whole-genome-sequencing-for-an-enhanced-understanding-of-genetic-variation-among-south-africans
#15
Ananyo Choudhury, Michèle Ramsay, Scott Hazelhurst, Shaun Aron, Soraya Bardien, Gerrit Botha, Emile R Chimusa, Alan Christoffels, Junaid Gamieldien, Mahjoubeh J Sefid-Dashti, Fourie Joubert, Ayton Meintjes, Nicola Mulder, Raj Ramesar, Jasper Rees, Kathrine Scholtz, Dhriti Sengupta, Himla Soodyall, Philip Venter, Louise Warnich, Michael S Pepper
The Southern African Human Genome Programme is a national initiative that aspires to unlock the unique genetic character of southern African populations for a better understanding of human genetic diversity. In this pilot study the Southern African Human Genome Programme characterizes the genomes of 24 individuals (8 Coloured and 16 black southeastern Bantu-speakers) using deep whole-genome sequencing. A total of ~16 million unique variants are identified. Despite the shallow time depth since divergence between the two main southeastern Bantu-speaking groups (Nguni and Sotho-Tswana), principal component analysis and structure analysis reveal significant (p < 10-6) differentiation, and FST analysis identifies regions with high divergence...
December 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/29230161/a-homozygous-missense-variant-in-inpp5e-associated-with-joubert-syndrome-and-related-disorders
#16
Mitesh Shetty, Nimmy Ramdas, Shubhi Sahni, Nandita Mullapudi, Sridevi Hegde
Joubert syndrome and related disorders (JSRD; ORPHA 140874) is a complex set of neurodevelopmental disorders with multiple organ involvement. JSRD is a type of ciliopathy which is caused by the presence of defective primary cilia in an individual. JSRD is commonly inherited in an autosomal recessive pattern, and more than 23 genes are known to be associated with JSRD. We report a novel homozygous mutation identified in the INPP5E gene, c.1303C>T, which leads to a change of an amino acid from arginine to tryptophan at residue 435 in the protein chain...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29217415/arima-syndrome-caused-by-cep290-specific-variant-and-accompanied-with-pathological-cilium-clinical-comparison-with-joubert-syndrome-and-its-related-diseases
#17
Masayuki Itoh, Shuhei Ide, Yuji Iwasaki, Takashi Saito, Keishi Narita, Hongmei Dai, Shinji Yamakura, Takeki Furue, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Kiyoshi Matsui, Yu-Ichi Goto, Sen Takeda, Masataka Arima
OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing...
December 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/29209597/meckel-gruber-syndrome-an-update-on-diagnosis-clinical-management-and-research-advances
#18
REVIEW
Verity Hartill, Katarzyna Szymanska, Saghira Malik Sharif, Gabrielle Wheway, Colin A Johnson
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathies, and MKS represents the most severe condition in this group of disorders. The primary cilium is a microtubule-based organelle, projecting from the apical surface of vertebrate cells. It acts as an "antenna" that receives and transduces chemosensory and mechanosensory signals, but also regulates diverse signaling pathways, such as Wnt and Shh, that have important roles during embryonic development...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29208045/joubert-s-syndrome-and-related-disorders-and-home-based-peritoneal-dialysis-in-east-africa-a-case-report
#19
Grace M Musiime, Doris M W Kinuthia, Donald P Oyatsi, Wangui Manguyu
BACKGROUND: Joubert's syndrome is a rare condition affecting an estimated 1:80,000-1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert's syndrome and related disorders. To date, there are no cases of Joubert's syndrome and related disorders from sub-Saharan Africa described in the literature...
December 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29192144/downregulation-of-myostatin-pathway-in-neuromuscular-diseases-may-explain-challenges-of-anti-myostatin-therapeutic-approaches
#20
Virginie Mariot, Romain Joubert, Christophe Hourdé, Léonard Féasson, Michael Hanna, Francesco Muntoni, Thierry Maisonobe, Laurent Servais, Caroline Bogni, Rozen Le Panse, Olivier Benvensite, Tanya Stojkovic, Pedro M Machado, Thomas Voit, Ana Buj-Bello, Julie Dumonceaux
Muscular dystrophies are characterized by weakness and wasting of skeletal muscle tissues. Several drugs targeting the myostatin pathway have been used in clinical trials to increase muscle mass and function but most showed limited efficacy. Here we show that the expression of components of the myostatin signaling pathway is downregulated in muscle wasting or atrophying diseases, with a decrease of myostatin and activin receptor, and an increase of the myostatin antagonist, follistatin. We also provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotubularin coding gene Mtm1) that a down-regulated myostatin pathway can be reactivated by correcting the underlying gene defect...
November 30, 2017: Nature Communications
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