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https://www.readbyqxmd.com/read/28527578/tr2-and-tr4-orphan-nuclear-receptors-an-overview
#1
Shin-Jen Lin, Dong-Rong Yang, Guosheng Yang, Chang-Yi Lin, Hong-Chiang Chang, Gonghui Li, Chawnshang Chang
Testicular nuclear receptors 2 and 4 (TR2, TR4), also known as NR2C1 and NR2C2, belong to the nuclear receptor superfamily and were first cloned in 1989 and 1994, respectively. Although classified as orphan receptors, several natural molecules, their metabolites, and synthetic compounds including polyunsaturated fatty acids (PUFAs), PUFA metabolites 13-hydroxyoctadecadienoic acid, 15-hydroxyeicosatetraenoic acid, and the antidiabetic drug thiazolidinediones can transactivate TR4. Importantly, many of these ligands/activators can also transactivate peroxisome proliferator-activated receptor gamma (PPARγ), also known as NR1C3 nuclear receptor...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28521378/-studies-in-rare-diseases-a-descriptive-analysis-of-completed-orphan-drug-benefit-assessments-at-the-federal-joint-committee
#2
Sandra Schulz, Anna Passon, Michael Kulig, Matthias Perleth, Katja Matthias
No abstract text is available yet for this article.
May 18, 2017: Das Gesundheitswesen
https://www.readbyqxmd.com/read/28520909/large-scale-data-driven-integrative-framework-for-extracting-essential-targets-and-processes-from-disease-associated-gene-data-sets
#3
Gaston K Mazandu, Emile R Chimusa, Kayleigh Rutherford, Elsa-Gayle Zekeng, Zoe Z Gebremariam, Maryam Y Onifade, Nicola J Mulder
Populations worldwide currently face several public health challenges, including growing prevalence of infections and the emergence of new pathogenic organisms. The cost and risk associated with drug development make the development of new drugs for several diseases, especially orphan or rare diseases, unappealing to the pharmaceutical industry. Proof of drug safety and efficacy is required before market approval, and rigorous testing makes the drug development process slow, expensive and frequently result in failure...
May 18, 2017: Briefings in Bioinformatics
https://www.readbyqxmd.com/read/28506594/fingolimod-and-teriflunomide-attenuate-neurodegeneration-in-mouse-models-of-neuronal-ceroid-lipofuscinosis
#4
Janos Groh, Kristina Berve, Rudolf Martini
CLN diseases are rare lysosomal storage diseases characterized by progressive axonal degeneration and neuron loss in the CNS, manifesting in disability, blindness, and premature death. We have previously demonstrated that, in animal models of infantile and juvenile forms of CLN disease (CLN1 and CLN3, respectively), secondary neuroinflammation in the CNS substantially amplifies neural damage, opening the possibility that immunomodulatory treatment might improve disease outcome. First, we recapitulated the inflammatory phenotype, originally seen in mice in autopsies of CLN patients...
May 13, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28502923/g-protein-coupled-receptor-signaling-through-gpr176-gz-and-rgs16-tunes-time-in-the-center-of-the-circadian-clock-review
#5
Kaoru Goto, Masao Doi, Tianyu Wang, Sumihiro Kunisue, Iori Murai, Hitoshi Okamura
G-protein-coupled receptors (GPCRs) constitute an immensely important class of drug targets with diverse clinical applications. There are still more than 120 orphan GPCRs whose cognate ligands and physiological functions are not known. A set of circadian pacemaker neurons that governs daily rhythms in behavior and physiology resides in the suprachiasmatic nucleus (SCN) in the brain. Malfunction of the circadian clock has been linked to a multitude of diseases, such as sleeping disorders, obesity, diabetes, cardiovascular diseases, and cancer, which makes the clock an attractive target for drug development...
May 13, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28493531/ternary-complex-of-human-ror%C3%AE-ligand-binding-domain-inverse-agonist-and-smrt-peptide-shows-a-unique-mechanism-of-corepressor-recruitment
#6
Masato Noguchi, Akihiro Nomura, Ken Murase, Satoki Doi, Keishi Yamaguchi, Kazuyuki Hirata, Makoto Shiozaki, Shintaro Hirashima, Masayuki Kotoku, Takayuki Yamaguchi, Yoshiaki Katsuda, Ruo Steensma, Xioalin Li, Haiyan Tao, Bruno Tse, Morgan Fenn, Robert Babine, Erin Bradley, Paul Crowe, Scott Thacher, Tsuyoshi Adachi, Masafumi Kamada
Retinoid-related orphan receptor gamma (RORγ) directly controls the differentiation of Th17 cell and the production of interleukin-17, which plays an integral role in autoimmune diseases. To obtain insight into RORγ, we have determined the first crystal structure of a ternary complex containing RORγ ligand-binding domain (LBD) bound with a novel synthetic inhibitor and a repressor peptide, 22-mer peptide from silencing mediator of retinoic acid and thyroid hormone receptor (SMRT). Comparison of a binary complex of nonliganded (apo) RORγ-LBD with a nuclear receptor co-activator (NCoA-1) peptide has shown that our inhibitor displays a unique mechanism different from those caused by natural inhibitor, ursolic acid (UA)...
May 11, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28492899/postmarket-safety-events-among-novel-therapeutics-approved-by-the-us-food-and-drug-administration-between-2001-and-2010
#7
Nicholas S Downing, Nilay D Shah, Jenerius A Aminawung, Alison M Pease, Jean-David Zeitoun, Harlan M Krumholz, Joseph S Ross
Importance: Postmarket safety events of novel pharmaceuticals and biologics occur when new safety risks are identified after initial regulatory approval of these therapeutics. These safety events can change how novel therapeutics are used in clinical practice and inform patient and clinician decision making. Objectives: To characterize the frequency of postmarket safety events among novel therapeutics approved by the US Food and Drug Administration (FDA), and to examine whether any novel therapeutic characteristics known at the time of FDA approval were associated with increased risk...
May 9, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28485723/developing-gene-and-cell-therapies-for-rare-diseases-an-opportunity-for-synergy-between-academia-and-industry
#8
REVIEW
F Mavilio
For the last twenty years, academic research has been the major, and often only, driving force behind the spectacular development of gene transfer technology for the therapy of rare genetic diseases. Investors and industry became eventually interested in gene and cell therapy, due to the success of a series of pioneering clinical trials that proved efficacy and safety of last-generation technology, and to favorable orphan drug legislation in both Europe and the United States. Developing this forms of therapy is however complex and requires skills and knowledge not necessary available to the industry, which is better placed to develop processes and products and put them on the market...
May 9, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28477284/holocranohistochemistry-enables-the-visualization-of-%C3%AE-synuclein-expression-in-the-murine-olfactory-system-and-discovery-of-its-systemic-anti-microbial-effects
#9
Julianna J Tomlinson, Bojan Shutinoski, Li Dong, Fanyi Meng, Dina Elleithy, Nathalie A Lengacher, Angela P Nguyen, Greg O Cron, Qiubo Jiang, Erik D Roberson, Robert L Nussbaum, Nour K Majbour, Omar M El-Agnaf, Steffany A Bennett, Diane C Lagace, John M Woulfe, Subash Sad, Earl G Brown, Michael G Schlossmacher
Braak and Del Tredici have proposed that typical Parkinson disease (PD) has its origins in the olfactory bulb and gastrointestinal tract. However, the role of the olfactory system has insufficiently been explored in the pathogeneses of PD and Alzheimer disease (AD) in laboratory models. Here, we demonstrate applications of a new method to process mouse heads for microscopy by sectioning, mounting, and staining whole skulls ('holocranohistochemistry'). This technique permits the visualization of the olfactory system from the nasal cavity to mitral cells and dopamine-producing interneurons of glomeruli in the olfactory bulb...
May 5, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28476646/g-protein-coupled-receptor-gpr19-regulates-e-cadherin-expression-and-invasion-of-breast-cancer-cells
#10
Angad Rao, Deron R Herr
Dysregulation of G protein-coupled receptors (GPCRs) is known to be involved in the pathogenesis of a variety of diseases, including cancer initiation and progression. Within this family, approximately 140 GPCRs have no known endogenous ligands and these "orphan" GPCRs remain poorly characterized. The orphan GPCR GPR19 was identified and cloned 2 decades ago, but relatively little is known about its physio-pathological relevance. We observed its expression to be elevated in breast cancers and therefore sought to investigate its potential role in breast cancer pathology...
May 2, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28473888/do-payers-value-rarity-an-analysis-of-the-relationship-between-disease-rarity-and-orphan-drug-prices-in-europe
#11
Goran Medic, Daria Korchagina, Katherine Eve Young, Mondher Toumi, Maarten Jacobus Postma, Micheline Wille, Michiel Hemels
Background and Objective: Orphan drugs have been a highlight of discussions due to their higher prices than non-orphan drugs. There is currently no European consensus on the method of value assessment for orphan drugs. This study assessed the relationship between the prevalence of rare diseases and the annual treatment cost of orphan drugs in France, Germany, Italy, Norway, Spain, Sweden, and UK. Methods: Approved orphan drugs and prevalence data were extracted from the European Medicines Agency website. Annual treatment costs were calculated using ex-factory price...
2017: Journal of Market Access & Health Policy
https://www.readbyqxmd.com/read/28473887/a-comparative-study-of-orphan-drug-prices-in-europe
#12
Katherine Eve Young, Imen Soussi, Michiel Hemels, Mondher Toumi
Background and Objective: This study assessed price differences by comparing annual treatment costs of similarly available orphan drugs in France, Germany, Italy, Norway, Spain, Sweden, and UK. Methods: Annual treatment costs per drug were calculated using ex-factory prices from IHS POLI and country price databases. The treatment cost in the comparator country was compared to the UK and ratios were analysed. Subanalyses were done on disease areas and UK cost quartiles. Results: 120 orphan drugs were included...
2017: Journal of Market Access & Health Policy
https://www.readbyqxmd.com/read/28468105/-different-meanings-of-long-stranguria-in-medicaland-historical-books-in-han-dynasty
#13
T L Zhang, Q Y Liu
The word "long (stranguria)" is seen both in historical and medical works in the Han Dynasty, but with much different meanings. In medical books, including Nei jing(Inner Canon), Wu shi er bing fang(Prescriptions for Fifty-two Diseases), and Wu wei yi jian(Medical Bamboo slips of Wuwei), Long refers to incontinence of urination. However, in historical books, Long is usually expressed as "pi long" , referring to different conditions, including lame, fatigue, and disability, all congenital or acquired renal deficient illness...
March 28, 2017: Zhonghua Yi Shi za Zhi, Chinese Journal of Medical History
https://www.readbyqxmd.com/read/28466453/hereditary-multiple-exostoses-new-insights-into-pathogenesis-clinical-complications-and-potential-treatments
#14
REVIEW
Maurizio Pacifici
PURPOSE OF REVIEW: Hereditary multiple exostoses (HME) is a complex musculoskeletal pediatric disorder characterized by osteochondromas that form next to the growth plates of many skeletal elements, including long bones, ribs, and vertebrae. Due to its intricacies and unresolved issues, HME continues to pose major challenges to both clinicians and biomedical researchers. The purpose of this review is to describe and analyze recent advances in this field and point to possible targets and strategies for future biologically based therapeutic intervention...
May 2, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28443381/pharmacological-management-of-narcolepsy-with-and-without-cataplexy
#15
Ulf Kallweit, Claudio L Bassetti
Narcolepsy is an orphan neurological disease and presents with sleep-wake, motoric, neuropsychiatric and metabolic symptoms. Narcolepsy with cataplexy is most commonly caused by an immune-mediated process including genetic and environmental factors, resulting in the selective loss of hypocretin-producing neurons. Narcolepsy has a major impact on workableness and quality of life. Areas covered: This review provides an overview of the temporal available treatment options for narcolepsy (type 1 and 2) in adults, including authorization status by regulatory agencies...
May 17, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28442765/the-gpr139-reference-agonists-1a-and-7c-and-tryptophan-and-phenylalanine-share-a-common-binding-site
#16
Anne Cathrine Nøhr, Willem Jespers, Mohamed A Shehata, Leonard Floryan, Vignir Isberg, Kirsten Bayer Andersen, Johan Åqvist, Hugo Gutiérrez-de-Terán, Hans Bräuner-Osborne, David E Gloriam
GPR139 is an orphan G protein-coupled receptor expressed in the brain, in particular in the habenula, hypothalamus and striatum. It has therefore been suggested that GPR139 is a possible target for metabolic disorders and Parkinson's disease. Several surrogate agonist series have been published for GPR139. Two series published by Shi et al. and Dvorak et al. included agonists 1a and 7c respectively, with potencies in the ten-nanomolar range. Furthermore, Isberg et al. and Liu et al. have previously shown that tryptophan (Trp) and phenylalanine (Phe) can activate GPR139 in the hundred-micromolar range...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28440511/simultaneously-increased-expression-of-glucocorticoid%C3%A2-induced-tumor-necrosis-factor-receptor-and-its-ligand-contributes-to-increased-interleukin%C3%A2-5-13%C3%A2-producing-group-2-innate-lymphocytes-in-murine-asthma
#17
Mengying Zhang, Jie Wan, Yunyun Xu, Danyi Zhang, Jingjing Peng, Chen Qi, Qi Guo, Sheng Xia, Zhaoliang Su, Shengjun Wang, Huaxi Xu
Glucocorticoid‑induced tumor necrosis factor receptor (GITR) is expressed at high levels on CD4+CD25+ regulatory T cells (Tregs). Following activation by its ligand (GITRL), GITR influences the activity of effector T cells and Tregs and participates in the development of numerous autoimmune and inflammatory diseases, including asthma. However, the GITR/GITRL expression level in lung tissue and its influence on group 2 innate lymphocytes (ILC2s) in asthma remains unclear. The present study detected the number of ILC2s and the expression levels of GITR and GITRL in the lung tissues of asthmatic mice by flow cytometry analysis, immunofluorescence staining and reverse transcription quantitative polymerase chain reaction...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440447/anti%C3%A2-inflammatory-effects-of-oxymatrine-on-rheumatoid-arthritis-in-rats-via-regulating-the-imbalance-between-treg-and-th17-cells
#18
Ailing Ma, Yongya Yang, Qiuyang Wang, Yin Wang, Jing Wen, Yanli Zhang
Oxymatrine (OMT), a monosomic alkaloid extracted from the Chinese herb, Sophora flavescens Ait, has long been used as a traditional Chinese medicine for the treatment of inflammatory diseases. The aim of the present study was to investigate the potential anti‑inflammatory effect of OMT, and its modulation on imbalance between regulatory T (Treg) cells and T helper (Th) 17 cells in rats with collagen‑induced arthritis (CIA). Sprague‑Dawley rats were immunized with type II collagen and following a second collagen immunization, the rats were treated with OMT or dexamethasone (DXM) intraperitoneally once a day for 43 days...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28439797/desmoid-type-fibromatosis-who-when-and-how-to-treat
#19
REVIEW
Javier Martínez Trufero, Isabel Pajares Bernad, Irene Torres Ramón, Jorge Hernando Cubero, Roberto Pazo Cid
Desmoid-type fibromatosis is a sarcoma subtype that gathers some singular characteristics, making it a difficult challenge to face in clinical practice. Despite its excellent survival prognosis, these tumors may be unpredictable, ranging from an asymptomatic indolent course to persistent, local, and extended recurrences that significantly impair quality of life. Although surgery was initially considered the first elective treatment, collected published data during the past few years are now pointing to the "wait and see" approach as a reasonable initial strategy because many patients can live a long life with the disease without having symptoms...
May 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28438638/adenosine-a2a-receptor-modulates-neuroimmune-function-through-th17-retinoid-related-orphan-receptor-gamma-t-ror%C3%AE-t-signaling-in-a-btbr-t-itpr3-tf-j-mouse-model-of-autism
#20
Mushtaq A Ansari, Ahmed Nadeem, Sabry M Attia, Saleh A Bakheet, Mohammad Raish, Sheikh F Ahmad
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by abnormal social interactions, repetitive behaviors that impair social communication, and circumscribed interests. BTBR T+tf/J (BTBR) inbred mice are generally used as a model for ASD, as they show repetitive behaviors and social deficits that resemble signs of ADS in humans. Adenosine A2A receptors (A2ARs) are considered as potential targets in the treatment of immune, inflammatory, and neurodegenerative diseases. In this study, we investigated the potential effects of the A2A adenosine receptor (A2AR) antagonist SCH 5826 (SCH) and agonist CGS 21680 (CGS) on behavior (self-grooming), hot plate test results, and expression levels of IL-17A(+), RORγt(+), Foxp3(+), and IL-10(+) in CD4(+) T spleen cells in BTBR and C57BL/6 (B6) mice...
April 21, 2017: Cellular Signalling
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