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https://www.readbyqxmd.com/read/29457131/keeping-an-eye-on-bardet-biedl-syndrome-a-comprehensive-review-of-the-role-of-bardet-biedl-syndrome-genes-in-the-eye
#1
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
https://www.readbyqxmd.com/read/29456362/joubert-syndrome-with-orofacial-digital-features
#2
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
https://www.readbyqxmd.com/read/29449373/tyrosine-hydroxylase-down-regulation-after-loss-of-abelson-helper-integration-site-1-ahi1-promotes-depression-via-the-circadian-clock-pathway-in-mice
#3
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
https://www.readbyqxmd.com/read/29441902/solution-mediated-crystallization-of-amorphous-azithromycin
#4
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
https://www.readbyqxmd.com/read/29432641/magnetotactic-bacteria-used-to-generate-electricity-based-on-faraday-s-law-of-electromagnetic-induction
#5
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
https://www.readbyqxmd.com/read/29421849/a-validated-liquid-chromatography-tandem-mass-spectrometry-method-for-the-analysis-of-efavirenz-in-0-2-mg-hair-samples-from-hiv-infected-patients
#6
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
https://www.readbyqxmd.com/read/29411691/prospective-memory-in-idiopathic-rem-sleep-behavior-disorder-with-or-without-mild-cognitive-impairment-a-preliminary-study
#7
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
https://www.readbyqxmd.com/read/29405212/revisiting-absorption-and-electronic-circular-dichroism-spectra-of-cholesterol-in-solution-a-joint-experimental-and-theoretical-study
#8
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
https://www.readbyqxmd.com/read/29398280/cep120-promotes-microtubule-formation-through-a-unique-tubulin-binding-c2-domain
#9
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
https://www.readbyqxmd.com/read/29396404/the-ciliopathy-protein-talpid3-kiaa0586-acts-upstream-of-rab8-activation-in-zebrafish-photoreceptor-outer-segment-formation-and-maintenance
#10
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
https://www.readbyqxmd.com/read/29392455/the-moves-motor-tic-obsessions-and-compulsions-vocal-tic-evaluation-survey-cross-cultural-evaluation-of-the-french-version-and-additional-psychometric-assessment
#11
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
https://www.readbyqxmd.com/read/29390885/multi-targeted-directed-ligands-for-alzheimer-s-disease-design-of-novel-lead-coumarin-conjugates
#12
B P Repsold, S F Malan, J Joubert, D W Oliver
Alzheimer's Disease (AD) is a neurodegenerative disease characterized by central nervous system insults with progressive cognitive (memory, attention) and non-cognitive (anxiety, depression) impairments. Pathophysiological events affect predominantly cholinergic neuronal loss and dysfunctions of the dopaminergic system. The aim of the current study was to design multi-targeted directed lead structures based on the coumarin scaffold with inhibitory properties at two key enzymes in disease relevant systems, i...
March 2018: SAR and QSAR in Environmental Research
https://www.readbyqxmd.com/read/29390414/prenatal-diagnosis-of-joubert-syndrome-a-case-report-and-literature-review
#13
Lingling Zhu, Limei Xie
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29389595/modeling-of-thermal-degradation-kinetics-of-the-c-glucosyl-xanthone-mangiferin-in-an-aqueous-model-solution-as-a-function-of-ph-and-temperature-and-protective-effect-of-honeybush-extract-matrix
#14
Theresa Beelders, Dalene de Beer, Martin Kidd, Elizabeth Joubert
Mangiferin, a C-glucosyl xanthone, abundant in mango and honeybush, is increasingly targeted for its bioactive properties and thus to enhance functional properties of food. The thermal degradation kinetics of mangiferin at pH3, 4, 5, 6 and 7 were each modeled at five temperatures ranging between 60 and 140°C. First-order reaction models were fitted to the data using non-linear regression to determine the reaction rate constant at each pH-temperature combination. The reaction rate constant increased with increasing temperature and pH...
January 2018: Food Research International
https://www.readbyqxmd.com/read/29388473/normative-data-for-the-rey-auditory-verbal-learning-test-in-the-older-french-quebec-population
#15
Monica Lavoie, Louis Bherer, Sven Joubert, Jean-François Gagnon, Sophie Blanchet, Isabelle Rouleau, Joël Macoir, Carol Hudon
OBJECTIVE: The aim of this study was to establish normative data for the Rey Auditory Verbal Learning Test, a test assessing verbal episodic memory, in the older French-Quebec population. METHOD: A total of 432 French-speaking participants aged between 55 and 93 years old, from the Province of Quebec (Canada), were included in the study. Using multiple regression analyses, normative data were developed for five variable of interest, namely scores on trial 1, sum of trials 1 to 5, interference list B, immediate recall of list A, and delayed recall of list A...
February 1, 2018: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/29388183/aspalathin-from-rooibos-aspalathus-linearis-a-bioactive-c-glucosyl-dihydrochalcone-with-potential-to-target-the-metabolic-syndrome
#16
Rabia Johnson, Dalene de Beer, Phiwayinkosi V Dludla, Daneel Ferreira, Christo J F Muller, Elizabeth Joubert
Aspalathin is a C-glucosyl dihydrochalcone that is abundantly present in Aspalathus linearis. This endemic South African plant, belonging to the Cape Floristic region, is normally used for production of rooibos, a herbal tea. Aspalathin was valued initially only as precursor in the formation of the characteristic red-brown colour of "fermented" rooibos, but the hype about the potential role of natural antioxidants to alleviate oxidative stress, shifted interest in aspalathin to its antioxidant properties and subsequently, its potential role to improve metabolic syndrome, a disease condition interrelated with oxidative stress...
January 31, 2018: Planta Medica
https://www.readbyqxmd.com/read/29388033/rechallenge-with-bevacizumab-in-patients-with-glioblastoma-progressing-off-therapy
#17
Charlotte Bronnimann, Cristina Izquierdo, Stéphanie Cartalat, Laure Thomas, Bastien Joubert, Laura Delpech, Marc Barritault, David Meyronet, Jérôme Honnorat, François Ducray
Rechallenge with temozolomide has been shown to be a valid option in selected patients with progressive glioblastoma. Herein, we assessed the efficacy of rechallenge with bevacizumab in glioblastoma patients progressing off therapy. We retrospectively identified and analyzed the characteristics of patients with glioblastoma rechallenged with a bevacizumab-based chemotherapy regimen after having received bevacizumab as first-line treatment in association with temozolomide radiochemotherapy or at recurrence in association with temozolomide, CCNU or irinotecan...
January 31, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29385098/synthesis-and-biological-evaluations-of-no-donating-oxa-and-aza-pentacycloundecane-derivatives-as-potential-neuroprotective-candidates
#18
Rajan Sharma, Jacques Joubert, Sarel F Malan
In order to utilize the neuroprotective properties of polycyclic cage compounds, and explore the NO-donating ability of nitrophenyl groups, an array of compounds was synthesized where the different nitrophenyl groups were appended on oxa and aza-bridged cage derivatives. Biological evaluations of the compounds were done for cytotoxicity, neuroprotective abilities, the inhibition of N-methyl-d-aspartate (NMDA)-mediated Ca2+ influx, the inhibition of voltage-mediated Ca2+ influx, and S-nitrosylation abilities...
January 31, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29383516/glioblastoma-as-differential-diagnosis-of-autoimmune-encephalitis
#19
Alberto Vogrig, Bastien Joubert, Francois Ducray, Laure Thomas, Cristina Izquierdo, Kévin Decaestecker, Olivier Martinaud, Emmanuel Gerardin, Sylvie Grand, Jérome Honnorat
OBJECTIVE: To identify the clinical and radiological features that should raise suspicion for the autoimmune encephalitis (AE)-like presentation of glioblastoma. METHODS: This is an observational, retrospective case series of patients referred to the French National Reference Center on Paraneoplastic Neurological Diseases for suspected AE (possible, probable or definite, using the 2016 criteria) who later received a final diagnosis of glioblastoma according to 2016 WHO criteria...
January 30, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29379821/multiplex-family-with-gad65-abs-neurologic-syndromes
#20
Aude Belbezier, Bastien Joubert, Gonzalo Montero-Martin, Marcelo Fernandez-Vina, Nicole Fabien, Véronique Rogemond, Emmanuel Mignot, Jérôme Honnorat
Objective: Neurologic autoimmune syndromes associated with anti-glutamate acid decarboxylase 65 antibodies (GAD65-Abs) are rare and mostly sporadic. Methods: We describe a niece and her aunt with GAD65-Abs neurologic syndromes. High-resolution HLA typing of Class I and Class II alleles was performed using next-generation sequencing. Results: The proband had cerebellar ataxia and probable limbic encephalitis features, whereas her niece had stiff-person syndrome...
January 2018: Neurology® Neuroimmunology & Neuroinflammation
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