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https://www.readbyqxmd.com/read/28066975/targeting-brak-mek-mtor-and-now-akt-in-histiocytosis-the-ongoing-revolution-of-therapies-in-orphan-diseases
#1
Julien Haroche
No abstract text is available yet for this article.
January 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28063110/toward-the-next-step-in-g-protein-coupled-receptor-research-a-knowledge-driven-analysis-for-the-next-potential-targets-in-drug-discovery
#2
Koji Nagata, Yukie Katayama, Tomomi Sato, Yeondae Kwon, Takeshi Kawabata
More than 800 G protein-coupled receptor (GPCR) genes have been discovered in the human genome. Towards the next step in GPCR research, we performed a knowledge-driven analysis of orphan class-A GPCRs that may serve as novel targets in drug discovery. We examined the relationship between 61 orphan class-A GPCR genes and diseases using the Online Mendelian Inheritance in Man (OMIM) database and the DDSS tool. The OMIM database contains data on disease-related variants of the genes. Particularly, the variants of GPR101, GPR161, and GPR88 are related to the genetic diseases: growth hormone-secreting pituitary adenoma 2, pituitary stalk interruption syndrome (not confirmed), and childhood-onset chorea with psychomotor retardation, respectively...
January 6, 2017: Journal of Structural and Functional Genomics
https://www.readbyqxmd.com/read/28057032/ethical-imperatives-of-timely-access-to-orphan-drugs-is-possible-to-reconcile-economic-incentives-and-patients-health-needs
#3
R Rodriguez-Monguio, T Spargo, E Seoane-Vazquez
BACKGROUND: More than 6,800 rare diseases and conditions have been identified in the US, which affect 25-30 million Americans. In 1983, the US Congress enacted the Orphan Drug Act (ODA) to encourage the development and marketing of drugs to treat rare diseases and conditions. This study analyzed all orphan designations and FDA approvals since 1983 through 2015, discussed the effectiveness of incentives for the development of treatments for rare diseases, and reflected on the ethical imperatives for timely access to orphan drugs...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28055275/the-nr4a-subfamily-of-nuclear-receptors-potential-new-therapeutic-targets-for-the-treatment-of-inflammatory-diseases
#4
Ricardo Rodríguez-Calvo, Marta Tajes, Manuel Vázquez-Carrera
Introduction Prolonged inflammatory response contributes to the pathogenesis of chronic disease-related disturbances. Among nuclear receptors (NRs), the orphan NR4A subfamily, which includes Nur77 (NR4A1), Nurr1 (NR4A2) and NOR1 (NR4A3), has recently emerged as a therapeutic target for the treatment of inflammation. Areas covered This review focuses on the capacity of NR4A receptors to counter-regulate the development of the inflammatory response, with a special focus on the molecular transrepression mechanisms...
January 5, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28045970/biomarker-defined-subsets-of-common-diseases-policy-and-economic-implications-of-orphan-drug-act-coverage
#5
Aaron S Kesselheim, Carolyn L Treasure, Steven Joffe
Aaron Kesselheim and colleagues examine orphan-designated drugs approved between 2009 and 2015 in the United States.
January 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28045014/death-receptor-6-contributes-to-autoimmunity-in-lupus-prone-mice
#6
Daisuke Fujikura, Masahiro Ikesue, Tsutomu Endo, Satoko Chiba, Hideaki Higashi, Toshimitsu Uede
Expansion of autoreactive follicular helper T (Tfh) cells is tightly restricted to prevent induction of autoantibody-dependent immunological diseases, such as systemic lupus erythematosus (SLE). Here we show expression of an orphan immune regulator, death receptor 6 (DR6/TNFRSF21), on a population of Tfh cells that are highly expanded in lupus-like disease progression in mice. Genome-wide screening reveals an interaction between syndecan-1 and DR6 resulting in immunosuppressive functions. Importantly, syndecan-1 is expressed specifically on autoreactive germinal centre (GC) B cells that are critical for maintenance of Tfh cells...
January 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28039300/pharmacological-inhibition-of-bromodomain-proteins-suppresses-retinal-inflammatory-disease-and-downregulates-retinal-th17-cells
#7
Malihe Eskandarpour, Robert Alexander, Peter Adamson, Virginia L Calder
Experimental autoimmune uveitis (EAU), in which CD4(+) Th1 and/or Th17 cells are immunopathogenic, mimics various clinical features of noninfectious uveitis in humans. The impact of bromodomain extraterminal (BET) inhibitors on Th17 cell function was studied in a mouse model of EAU in vivo and in mouse and human Th17 cells in vitro. Two BET inhibitors (GSK151 and JQ1) were able to ameliorate the progression of inflammation in EAU and in mouse CD4(+) T cells in vitro, downregulating levels of Th17 cells. Additionally, the uveitogenic capacity of Th17 cells to transfer EAU was abrogated by BET inhibitors in an adoptive transfer model...
December 30, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28027854/exome-sequencing-in-children-of-women-with-skewed-x-inactivation-identifies-atypical-cases-and-complex-phenotypes
#8
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Andrea Ciolfi, Viviana Caputo, Simone Pizzi, Alessandro Calcia, Eleonora Di Gregorio, Simona Cavalieri, Cecilia Mancini, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Iolanda Borelli, Antonio Amoroso, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco
BACKGROUND: More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10-15% of intellectual disability (ID). METHOD: To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth)...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28011145/a-functional-genomic-meta-analysis-of-clinical-trials-in-systemic-sclerosis-towards-precision-medicine-and-combination-therapy
#9
Jaclyn N Taroni, Viktor Martyanov, J Matthew Mahoney, Michael L Whitfield
Systemic sclerosis (SSc) is an orphan, systemic autoimmune disease with no FDA-approved treatments. Its heterogeneity and rarity often result in underpowered clinical trials making the analysis and interpretation of associated molecular data challenging. We performed a meta-analysis of gene expression data from skin biopsies of SSc patients treated with five therapies: mycophenolate mofetil (MMF), rituximab, abatacept, nilotinib, and fresolimumab. A common clinical improvement criterion of -20% OR -5 modified Rodnan Skin Score was applied to each study...
December 20, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28007645/parkinson-s-disease-associated-gpr37-receptor-regulates-cocaine-mediated-synaptic-depression-in-corticostriatal-synapses
#10
Daniel Rial, Xavier Morató, Joana I Real, Francisco Q Gonçalves, Igor Stagljar, Frederico C Pereira, Víctor Fernández-Dueñas, Rodrigo A Cunha, Francisco Ciruela
GPR37 is an orphan G protein-coupled receptor highly expressed in the brain. The precise function of GPR37 is still unknown, but a number of evidences indicate it modulates the dopaminergic system. Here, we aimed to determine the role of GPR37 on the control of cocaine-mediated electrophysiological effects (synaptic transmission and short-term plasticity) in corticostriatal synapses. Accordingly, we evaluated basal synaptic transmission and paired-pulse stimulation (PPS) in wild-type and GPR37KO mice slices...
December 19, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27996203/sialotranscriptome-sequencing-and-analysis-of-anopheles-sinensis-and-comparison-with-psorophora-albipes-sialotranscriptome-diptera-culicidae
#11
Ya-Jie Fang, Zhen-Tian Yan, Bin Chen
Most of adult female mosquitoes secrete saliva to facilitate blood sucking, digestion and nutrition, and mosquito-borne disease prevention. The knowledge of classification and characteristics of sialotranscriptome genes are still quite limited. Anopheles sinensis is a major malaria vector in China and Southeast countries. In the study, the An. sinensis sialotranscriptome was sequenced using Illumina sequencing technique with a total of 10 907 unigenes to be obtained and annotated in biological function and pathway, and 10 470 unigenes were mapped to An...
December 20, 2016: Insect Science
https://www.readbyqxmd.com/read/27995058/erdheim-chester-disease-moving-away-from-the-orphan-diseases-a-case-report
#12
Jessica M Stempel, Jean G Bustamante Alvarez, Andres Mora Carpio, Varun Mittal, Claudia Dourado
With approximately 750 cases reported, Erdheim-Chester disease is an exceedingly rare histiocyte cell disorder. Affected sites typically include long bones, large vessels and central nervous system. However, cutaneous and pulmonary involvement can also occur. The diagnosis is ascertained by identification of foamy histiocytes positive for CD68, CD163, and factor XIIIa on immunoperoxidase staining. Recently published literature have described an association between Erdheim-Chester disease and BRAF V600E mutation...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27990492/the-orphan-c2orf40-gene-is-a-neuroimmune-factor-in-alzheimer-s-disease
#13
Sonia Podvin, Miles C Miller, Ryan Rossi, Jasmine Chukwueke, John E Donahue, Conrad E Johanson, Andrew Baird, Edward G Stopa
Expression of the orphan C2orf40 gene is associated with the aggregation of the neurofibrillary tangle-protein tau in transgenic mice, tumor suppression, the induction of senescence in CNS, and the activation of microglia and peripheral mononuclear leukocytes. This gene also encodes several secreted pro- and anti-inflammatory neuropeptide-like cytokines, suggesting they might be implicated in the inflammatory component(s) of Alzheimer's disease (AD). Accordingly, we evaluated human AD and control brains for expression changes by RT-qPCR, Western blot, and histological changes by immunolabeling...
2016: JSM Alzheimers Dis Relat Dement
https://www.readbyqxmd.com/read/27987645/health-economics-as-rhetoric-the-limited-impact-of-health-economics-on-funding-decisions-in-four-european-countries
#14
Margreet Franken, Emelie Heintz, Andreas Gerber-Grote, James Raftery
BACKGROUND: A response to the challenge of high-cost treatments in health care has been economic evaluation. Cost-effectiveness analysis presented as cost per quality-adjusted life-years gained has been controversial, raising heated support and opposition. OBJECTIVES: To assess the impact of economic evaluation in decisions on what to fund in four European countries and discuss the implications of our findings. METHODS: We used a protocol to review the key features of the application of economic evaluation in reimbursement decision making in England, Germany, the Netherlands, and Sweden, reporting country-specific highlights...
December 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27973121/compare-policies-and-research-situation-of-rare-diseases-and-orphan-drugs-between-china-and-other-countries
#15
T Li
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971803/provisions-and-special-considerations-for-rare-diseases-orphan-drugs-by-health-technology-assessment-hta-bodies-systematic-evaluation-in-25-countries
#16
M Mwamburi, M Nanavaty, S Gala, A Nyandege, Ramesh
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971788/assessing-the-gap-between-prioritized-conditions-and-covered-conditions-in-current-legislation-for-rare-and-orphan-diseases-in-peru
#17
A Hernández-Vásquez, D Azañedo, D Díaz-Seijas, M Pussetto
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971778/association-between-disease-prevalence-drug-price-and-asmr-for-orphan-drugs-in-france
#18
D Korchagina, M Toumi, A Pliez, A Millier
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971124/relationship-between-orphan-disease-prevalence-differential-hta-value-assessment-and-orphan-drug-pricing-in-seven-european-countries
#19
S Sladeček, K Cockerill, S Hegde, A Funderburk, C Graeve, J A Gaebler
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971088/the-road-to-russian-pharmacoeconomics-understanding-the-drivers-for-access-to-high-value-orphan-disease-drugs
#20
E Subbotina, C A Chowdhury
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
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