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https://www.readbyqxmd.com/read/29672732/novel-genes-ancient-genes-and-gene-co-option-contributed-to-the-genetic-basis-of-the-radula-a-molluscan-innovation
#1
Leon Hilgers, Stefanie Hartmann, Michael Hofreiter, Thomas von Rintelen
The radula is the central foraging organ and apomorphy of the Mollusca. However, in contrast to other innovations, including the mollusk shell, genetic underpinnings of radula formation remain virtually unknown. Here we present the first radula formative tissue transcriptome using the viviparous freshwater snail Tylomelania sarasinorum and compare it to foot tissue and the shell-building mantle of the same species. We combine differential expression, functional enrichment, and phylostratigraphic analyses to identify both specific and shared genetic underpinnings of the three tissues as well as their dominant functions and evolutionary origins...
April 17, 2018: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29671837/analysis-of-17-genes-detects-mutations-in-81-of-811-patients-with-lissencephaly
#2
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, Ghayda M Mirzaa, James T Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill, Candace T Myers, Jean-Baptiste Rivière, Maha S Zaki, Joseph G Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M Elizabeth Ross, David H Ledbetter, Renzo Guerrini, William B Dobyns
PurposeTo estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.MethodsWe collected DNA from 756 children with lissencephaly over 30 years. Many were tested for deletion 17p13.3 and mutations of LIS1, DCX, and ARX, but few other genes. Among those tested, 216 remained unsolved and were tested by a targeted panel of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, TUBG1, KIF2A, KIF5C, DYNC1H1, RELN, and VLDLR) or by whole-exome sequencing...
April 19, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29659809/a-new-mouse-model-of-arx-dup24-recapitulates-the-patients-behavioural-and-fine-motor-alterations
#3
Aline Dubos, Hamid Meziane, Giovanni Iacono, Aurore Curie, Fabrice Riet, Christelle Martin, Nadège Loaëc, Marie-Christine Birling, Mohammed Selloum, Elisabeth Normand, Guillaume Pavlovic, Tania Sorg, Henk G Stunnenberg, Jamel Chelly, Yann Humeau, Gaëlle Friocourt, Yann Hérault
The Aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons in the forebrain. ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without epilepsy. To understand the functional consequences of this mutation, we generated a partially humanized mouse model carrying the c...
April 5, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29650691/predictive-score-for-the-development-or-progression-of-graves-orbitopathy-in-patients-with-newly-diagnosed-graves-hyperthyroidism
#4
Wilmar M Wiersinga, Miloš Žarković, Luigi Bartalena, Simone Donati, Petros Perros, Onyebuchi Okosieme, Daniel Morris, Nicole Fichter, Juerg Lareida, Georg von Arx, Chantal Daumerie, Maria-Cristina Burlacu, George J Kahaly, Susanne Pitz, Biljana Beleslin, Jasmina Ćirić, Goksun Ayvaz, Onur Konuk, Fusun Balos Toruner, Mario Salvi, Danila Covelli, Nicola Currò, Laszlo Hegedüs, Thomas Heiberg Brix
Objective: To construct a predictive score for the development or progression of Graves' orbitopathy (GO) in Graves' hyperthyroidism (GH). Design: Prospective observational study in patients with newly diagnosed GH, treated with antithyroid drugs (ATD) for 18 months at ten participating centers from EUGOGO in 8 European countries. Methods: 348 patients were included with untreated GH but without obvious GO. Mixeded effects logistic regression was used to determine best predictors. A predictive score (called PREDIGO) was constructed...
April 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29642459/bearing-fault-diagnosis-by-a-robust-higher-order-super-twisting-sliding-mode-observer
#5
Farzin Piltan, Jong-Myon Kim
An effective bearing fault detection and diagnosis (FDD) model is important for ensuring the normal and safe operation of machines. This paper presents a reliable model-reference observer technique for FDD based on modeling of a bearing's vibration data by analyzing the dynamic properties of the bearing and a higher-order super-twisting sliding mode observation (HOSTSMO) technique for making diagnostic decisions using these data models. The HOSTSMO technique can adaptively improve the performance of estimating nonlinear failures in rolling element bearings (REBs) over a linear approach by modeling 5 degrees of freedom under normal and faulty conditions...
April 7, 2018: Sensors
https://www.readbyqxmd.com/read/29588326/impact-of-care-related-regret-upon-sleep-icarus-cohort-study-protocol-of-a-3-year-multicentre-international-prospective-cohort-study-of-novice-healthcare-professionals
#6
Boris Cheval, Stéphane Cullati, Jesper Pihl-Thingvad, Denis Mongin, Martina Von Arx, Pierre Chopard, Delphine S Courvoisier
INTRODUCTION: Healthcare professionals are particularly at risk of developing numerous physical and psychological health problems. The experiences of emotional burden associated with providing healthcare, notably care-related regret, have been associated with these health problems, but only using cross-sectional data so far. Evidence of a causal impact of regret has not been assessed. The Impact of CAre-related Regret Upon Sleep (ICARUS) study is the first prospective and international cohort study established to examine how newly practising healthcare professionals adapt to their challenging job by assessing the impact of care-related regret on sleep and job quitting...
March 27, 2018: BMJ Open
https://www.readbyqxmd.com/read/29570955/human-pancreatic-alpha-to-beta-cell-area-ratio-increases-after-type-2-diabetes-onset
#7
Yukari Fujita, Junji Kozawa, Hiromi Iwahashi, Sho Yoneda, Sae Uno, Hidetoshi Eguchi, Hiroaki Nagano, Akihisa Imagawa, Iichiro Shimomura
AIMS/INTRODUCTION: Pancreatic alpha-cell area and the alpha- to beta-cell area ratio (α/β) might be associated with glucose tolerance. The aim was to clarify how these histological parameters change as glucose tolerance deteriorates. MATERIALS AND METHODS: We analyzed pancreatic tissues obtained from pancreatectomies in 43 patients. We evaluated the relationships between alpha-cell area or the α/β and various clinical parameters. Additionally, we analyzed alpha-cell proliferation and the expression patterns of various pancreatic transcription factors...
March 23, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29566073/development-of-tizanidine-hcl-meloxicam-loaded-mucoadhesive-buccal-films-in-vitro-and-in-vivo-evaluation
#8
Muhammad Zaman, Muhammad Hanif, Zaib Ali Shaheryar
The purpose of the study was to develop Tizanidine HCl (TZN) and Meloxicam (MLX) loaded bilayer mucoadhesive films intended for buccal administration, aiming to enhance the bioavailability. Bilayer films were prepared by solvent evaporation technique selecting arabinoxylan (ARX) as a sustained release (SR) layer forming polymer and hydroxypropyl methylcellulose (HPMC) E-15 as an immediate release (IR) layer-forming polymer. Prepared films were subjected to in-vitro drug release, surface morphology, mechanical strength, compatibility of the ingredients, drug contents, ex-vivo mucoadhesion strength and drug permeation...
2018: PloS One
https://www.readbyqxmd.com/read/29550100/effect-of-redox-partner-binding-on-cyp101d1-conformational-dynamics
#9
Dipanwita Batabyal, Thomas L Poulos
We have compared the thermodynamics of substrate and redox partner binding of P450cam to its close homologue, CYP101D1, using isothermal titration calorimetry (ITC). CYP101D1 binds camphor about 10-fold more weakly than P450cam which is consistent with the inability of camphor to cause a complete low- to high-spin shift in CYP101D1. Even so molecular dynamics simulations show that camphor is very stable in the CYP101D1 active site similar to P450cam. ITC data on the binding of the CYP101D1 ferredoxin redox partner (abbreviated Arx) shows that the substrate-bound closed state of CYP101D1 binds Arx more tightly than the substrate-free open form...
March 1, 2018: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/29435241/interannual-variations-in-needle-and-sapwood-traits-of-pinus-edulis-branches-under-an-experimental-drought
#10
Marceau Guérin, Dario Martin-Benito, Georg von Arx, Laia Andreu-Hayles, Kevin L Griffin, Rayann Hamdan, Nate G McDowell, Robert Muscarella, William Pockman, Pierre Gentine
In the southwestern USA, recent large-scale die-offs of conifers raise the question of their resilience and mortality under droughts. To date, little is known about the interannual structural response to droughts. We hypothesized that piñon pines (Pinus edulis) respond to drought by reducing the drop of leaf water potential in branches from year to year through needle morphological adjustments. We tested our hypothesis using a 7-year experiment in central New Mexico with three watering treatments (irrigated, normal, and rain exclusion)...
February 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29409750/modeling-individual-differences-a-case-study-of-the-application-of-system-identification-for-personalizing-a-physical-activity-intervention
#11
Sayali S Phatak, Mohammad T Freigoun, César A Martín, Daniel E Rivera, Elizabeth V Korinek, Marc A Adams, Matthew P Buman, Predrag Klasnja, Eric B Hekler
BACKGROUND: Control systems engineering methods, particularly, system identification (system ID), offer an idiographic (i.e., person-specific) approach to develop dynamic models of physical activity (PA) that can be used to personalize interventions in a systematic, scalable way. The purpose of this work is to: 1) apply system ID to develop individual dynamical models of PA (steps/day measured using Fitbit Zip) in the context of a goal setting and positive reinforcement intervention informed by Social Cognitive Theory; and 2) compare insights on potential tailoring variables (i...
January 31, 2018: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/29378833/mafb-is-critical-for-glucagon-production-and-secretion-in-mouse-pancreatic-%C3%AE-cells-in-vivo
#12
Megumi C Katoh, Yunshin Jung, Chioma M Ugboma, Miki Shimbo, Akihiro Kuno, Walaa A Basha, Takashi Kudo, Hisashi Oishi, Satoru Takahashi
The MafB transcription factor is expressed in pancreatic α and β cells during development but becomes exclusive to α cells in adult rodents. Mafb -null ( Mafb-/- ) mice were reported to have reduced α- and β-cell numbers throughout embryonic development. To further analyze the postnatal function of MafB in the pancreas, we generated endocrine cell-specific ( MafbΔ Endo ) and tamoxifen-dependent ( MafbΔ TAM ) Mafb knockout mice. MafbΔ Endo mice exhibited reduced populations of insulin-positive (insulin+ ) and glucagon+ cells at postnatal day 0, but the insulin+ cell population recovered by 8 weeks of age...
April 15, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29358049/ultraconserved-enhancers-are-required-for-normal-development
#13
Diane E Dickel, Athena R Ypsilanti, Ramón Pla, Yiwen Zhu, Iros Barozzi, Brandon J Mannion, Yupar S Khin, Yoko Fukuda-Yuzawa, Ingrid Plajzer-Frick, Catherine S Pickle, Elizabeth A Lee, Anne N Harrington, Quan T Pham, Tyler H Garvin, Momoe Kato, Marco Osterwalder, Jennifer A Akiyama, Veena Afzal, John L R Rubenstein, Len A Pennacchio, Axel Visel
Non-coding "ultraconserved" regions containing hundreds of consecutive bases of perfect sequence conservation across mammalian genomes can function as distant-acting enhancers. However, initial deletion studies in mice revealed that loss of such extraordinarily constrained sequences had no immediate impact on viability. Here, we show that ultraconserved enhancers are required for normal development. Focusing on some of the longest ultraconserved sites genome wide, located near the essential neuronal transcription factor Arx, we used genome editing to create an expanded series of knockout mice lacking individual or combinations of ultraconserved enhancers...
January 25, 2018: Cell
https://www.readbyqxmd.com/read/29343471/infantile-onset-hand-dystonia-with-intellectual-disability-clues-to-arx-mutations
#14
David P Breen, Saadet Mercimek-Andrews, Anthony E Lang
No abstract text is available yet for this article.
January 17, 2018: Neurology
https://www.readbyqxmd.com/read/29329457/a-novel-application-of-rnase-h2-dependent-quantitative-pcr-for-detection-and-quantification-of-grosmannia-clavigera-a-mountain-pine-beetle-fungal-symbiont-in-environmental-samples
#15
Chandra H McAllister, Colleen E Fortier, Kate R St Onge, Bianca M Sacchi, Meaghan J Nawrot, Troy Locke, Janice E K Cooke
Mountain pine beetle (Dendroctonus ponderosae Hopkins; MPB) is an economically and ecologically important pest of pine species in western North America. Mountain pine beetles form complex multipartite relationships with microbial partners, including the ophiostomoid fungi Grosmannia clavigera (Robinson-Jeffrey and Davidson) Zipfel, de Beer and Wingfield, Ophiostoma montium (Rumbold) von Arx, Grosmannia aurea (Robinson-Jeffrey and Davidson) Zipfel, de Beer and Wingfield, Leptographium longiclavatum (Lee, Kim, and Breuil) and Leptographium terebrantis (Barras and Perry)...
March 1, 2018: Tree Physiology
https://www.readbyqxmd.com/read/29326366/highly-proliferative-%C3%AE-cell-related-islet-endocrine-cells-in-human-pancreata
#16
Carol J Lam, Aaron R Cox, Daniel R Jacobson, Matthew M Rankin, Jake A Kushner
The proliferative response of non-β islet endocrine cells in response to type 1 diabetes (T1D) remains undefined. We quantified islet endocrine cell proliferation in a large collection of nondiabetic control and T1D human pancreata across a wide range of ages. Surprisingly, islet endocrine cells with abundant proliferation were present in many adolescent and young-adult T1D pancreata. But the proliferative islet endocrine cells were also present in similar abundance within control samples. We queried the proliferating islet cells with antisera against various islet hormones...
April 2018: Diabetes
https://www.readbyqxmd.com/read/29302192/identification-of-epigenetically-altered-genes-and-potential-gene-targets-in-melanoma-using-bioinformatic-methods
#17
Honghao Duan, Ke Jiang, Dengke Wei, Lijun Zhang, Deliang Cheng, Min Lv, Yuben Xu, Aimin He
This study aimed to analyze epigenetically and genetically altered genes in melanoma to get a better understanding of the molecular circuitry of melanoma and identify potential gene targets for the treatment of melanoma. The microarray data of GSE31879, including mRNA expression profiles (seven melanoma and four melanocyte samples) and DNA methylation profiles (seven melanoma and five melanocyte samples), were downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) and differentially methylated positions (DMPs) were screened using the linear models for microarray data (limma) package in melanoma compared with melanocyte samples...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29287189/human-epidermal-growth-factor-receptor-2-dual-blockade-with-trastuzumab-and-pertuzumab-in-real-life-italian-clinical-practice-versus-the-cleopatra-trial-results
#18
Sabino De Placido, Mario Giuliano, Francesco Schettini, Claudia Von Arx, Giuseppe Buono, Ferdinando Riccardi, Daniela Cianniello, Roberta Caputo, Fabio Puglisi, Marta Bonotto, Alessandra Fabi, Domenico Bilancia, Mariangela Ciccarese, Vito Lorusso, Andrea Michelotti, Dario Bruzzese, Bianca Maria Veneziani, Mariavittoria Locci, Michelino De Laurentiis, Grazia Arpino
OBJECTIVES: Given their inclusion and exclusion criteria, randomized clinical trials (RCT) might not include a population that truly mirrors real life (RL). This raises concerns about the applicability of RCT results in clinical practice. We evaluated the efficacy of anti-HER2 treatment with pertuzumab combined with trastuzumab and a taxane as first-line treatment for HER2-positive metastatic breast cancer in a RL setting, and compared the safety results obtained in our population versus the experimental cohort of the CLEOPATRA RCT, which led to the approval of this therapy...
April 2018: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29275192/detection-of-aristaless-related-homeobox-protein-in-ovarian-sex-cord-stromal-tumors
#19
Tamara Knific, Snježana Frković Grazio, Tea Lanišnik Rižner
OBJECTIVE: To examine the potential of ARX as a novel biomarker of ovarian endometriosis and other ovarian pathologies. METHODS: The mRNA level of ARX in ovarian endometriosis and normal endometrium samples was determined by real-time PCR, while the protein level was determined by Western blotting and immunohistochemical staining. Immunohistochemical analysis was performed on nearly 200 tissue samples of different ovarian pathologies. GraphPad Prism was used for statistical analysis...
February 2018: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29245725/revision-of-the-i-hybobathus-i-i-arx-i-and-i-pelecinobaccha-i-i-summa-i-species-groups-diptera-syrphidae
#20
Gil Felipe Gonçalves Miranda
The morphologically similar Hybobathus arx and Pelecinobaccha summa species groups are revised and distinguished from each other. Four new species are described (H. avittatus sp. nov., H. luciane sp. nov., P. alia sp. nov. and P. impostor sp. nov.), and three new combinations (H. obsoletus comb. nov., H. persimilis comb. nov., and P. cubensis comb. nov.) and several synonimies are proposed: Baccha bivittata Curran = H. arx (Fluke), B. myrtella Hull and B. nectarina Hull = H. obsoletus (Curran), B. druida Hull = H...
October 24, 2017: Zootaxa
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