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https://www.readbyqxmd.com/read/29345621/the-circulating-t-helper-subsets-and-regulatory-t-cells-in-patients-with-common-variable-immunodeficiency-with-no-known-monogenic-disease
#1
G Azizi, A Mirshafiey, H Abolhassani, R Yazdani, F J Ansariha, M Shaghaghi, S S Mortazavi-Jahromi, F Noorbakhsh, N Rezaei, A Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency (PID), characterized by heterogeneous clinical manifestations and defects in B- and T- cells. In the present study, we investigated the T helper (Th) cell subsets and regulatory T (Treg) cells, and their related cytokines and transcription factors in the CVID patients with no definite genetic diagnosis. METHODS: The study population comprised 13 CVID patients and 13 healthy controls (HC)...
January 18, 2018: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/29345018/an-orphan-protist-quadricilia-rotundata-finally-finds-its-phylogenetic-home-in-cercozoa
#2
Akinori Yabuki, Ken-Ichiro Ishida
Quadricilia rotundata is a heterotrophic flagellate with four flagella. However, because this species has no clear morphological characteristics or molecular data affiliating it with any known group, Q. rotundata has been treated as a protist incertae sedis, for a long time. Here, we established a clonal culture of Q. rotundata and sequenced its 18S rDNA sequence. Molecular phylogenetic analysis successfully placed Q. rotundata in an environmental clade within Cercozoa, which contributes to expand the morphological and species diversity within Cercozoa...
January 18, 2018: Journal of Eukaryotic Microbiology
https://www.readbyqxmd.com/read/29343521/t-type-ca2-channels-t-for-targetable
#3
REVIEW
Marta C Sallán, Anna Visa, Soni Shaikh, Mireia Nàger, Judit Herreros, Carles Cantí
In the past decade, T-type Ca2+ channels (TTCC) have been unveiled as key regulators of cancer cell biology and thus have been proposed as chemotherapeutic targets. Indeed, in vitro and in vivo studies indicate that TTCC pharmacologic blockers have a negative impact on the viability of cancer cells and reduce tumor size, respectively. Consequently mibefradil, a TTCC blocker approved in 1997 as an antihypertensive agent but withdrawn in 1998 because of drug-drug interactions, was granted 10 years later the orphan drug status by the FDA to investigate its efficacy against brain, ovary, and pancreatic cancer...
January 17, 2018: Cancer Research
https://www.readbyqxmd.com/read/29342416/identification-of-novel-quinazolinedione-derivatives-as-ror%C3%AE-t-inverse-agonist
#4
Yoshiyuki Fukase, Ayumu Sato, Yoshihide Tomata, Atsuko Ochida, Mitsunori Kono, Kazuko Yonemori, Keiko Koga, Toshitake Okui, Masashi Yamasaki, Yasushi Fujitani, Hideyuki Nakagawa, Ryoukichi Koyama, Masaharu Nakayama, Robert Skene, Bi-Ching Sang, Isaac Hoffman, Junya Shirai, Satoshi Yamamoto
Novel small molecules were synthesized and evaluated as retinoic acid receptor-related orphan receptor-gamma t (RORγt) inverse agonists for the treatment of inflammatory and autoimmune diseases. A hit compound, 1, was discovered by high-throughput screening of our compound library. The structure-activity relationship (SAR) study of compound 1 showed that the introduction of a chlorine group at the 3-position of 4-cyanophenyl moiety increased the potency and a 3-methylpentane-1,5-diamide linker is favorable for the activity...
December 28, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/29331591/brochosomins-and-other-novel-proteins-from-brochosomes-of-leafhoppers-insecta-hemiptera-cicadellidae
#5
Roman Rakitov, Alexander A Moysa, Arthur T Kopylov, Sergei A Moshkovskii, Ralph S Peters, Karen Meusemann, Bernhard Misof, Christopher H Dietrich, Kevin P Johnson, Lars Podsiadlowski, Kimberly K O Walden
Brochosomes (BS) are secretory granules resembling buckyballs, produced intracellularly in specialized glandular segments of the Malpighian tubules and forming superhydrophobic coatings on the integuments of leafhoppers (Hemiptera, Cicadellidae). Their composition is poorly known. Using a combination of SDS-PAGE, LC-MS/MS, next-generation sequencing (RNAseq) and bioinformatics we demonstrate that the major structural component of BS of the leafhopper Graphocephala fennahi Young is a novel family of 21-40-kDa secretory proteins, referred to herein as brochosomins (BSM), apparently cross-linked by disulfide bonds...
January 10, 2018: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29327657/rare-disease-prevention-and-treatment-the-need-for-a-level-playing-field
#6
Dyfrig A Hughes, Catrin O Plumpton
Pharmacogenetic tests are being used increasingly to prevent rare and potentially life-threatening adverse drug reactions. For many tests, however, cost-effectiveness is hard to demonstrate, and with the exception of a few cases, widespread implementation remains a distant prospect. Many orphan drugs for rare diseases are also not cost effective but are nonetheless normally reimbursed. In this article, we argue that the health technology assessment of pharmacogenetic tests aimed to prevent rare but severe adverse drug reactions should be on a level playing field with orphan drugs...
January 12, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29327456/discovery-and-characterization-of-cd12681-a-potent-ror%C3%AE-inverse-agonist-preclinical-candidate-for-the-topical-treatment-of-psoriasis
#7
Gilles Ouvry, Nicolas Atrux-Tallau, Franck Bihl, Aline Bondu, Claire Bouix-Peter, Isabelle Carlavan, Olivier Christin, Marie-Josée Cuadrado, Claire Defoin-Platel, Sophie Deret, Denis Duvert, Christophe Feret, Mathieu Forissier, Jean-François Fournier, David Froude, Fériel Hacini-Rachinel, Craig Steven Harris, Catherine Hervouet, Hélène Huguet, Guillaume Lafitte, Anne-Pascale Luzy, Branislav Musicki, Danielle Orfila, Benjamin Ozello, Coralie Pascau, Jonathan Pascau, Véronique Parnet, Guillaume Peluchon, Romain Pierre, David Piwnica, Catherine Raffin, Patricia Rossio, Delphine Spiesse, Nathalie Taquet, Etienne Thoreau, Rodolphe Vatinel, Emmanuel Vial, Laurent François Hennequin
With possible implications in multiple autoimmune diseases, the retinoic acid receptor-related orphan receptor RORγ has become a very sought-after target in the pharmaceutical industry. Herein are described the efforts to identify a potent RORγ inverse agonist compatible with topical application for the treatment of skin diseases. These efforts culminated with the discovery of CD12681 (compound 14; N-(2,4-dimethylphenyl)-N-isobutyl-2-oxo-1-((tetrahydro-2H-pyran-4-yl)methyl)-2,3-dihydro-1H-benzo[d]imidazole-5-sulfonamide), a potent inverse agonist with in vivo activity in an IL-23 induced skin inflammation model in mouse...
January 12, 2018: ChemMedChem
https://www.readbyqxmd.com/read/29326485/orphan-drugs-indian-perspective
#8
EDITORIAL
Harish Kumar, Phulen Sarma, Bikash Medhi
No abstract text is available yet for this article.
July 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/29315288/the-promise-of-immunotherapy-in-anal-squamous-cell-carcinoma-a-novel-approach-for-an-orphan-disease
#9
Benny Johnson, Cathy Eng
An estimated 8200 men and women in the United States will receive a diagnosis of squamous cell carcinoma of the anal canal (SCCA) in 2017. Although SCCA is rare, accounting for 2.6% of gastrointestinal cancers, its incidence rate has been steadily increasing over the last few decades in the United States and around the world. More than 90% of cases of SCCA occur in the context of prior human papillomavirus (HPV) infection. To date, preventive vaccinations against HPV remain markedly underutilized. Most patients who have SCCA present with locoregional disease that is cured with chemoradiation...
December 2017: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/29313492/rufinamide-for-the-treatment-of-lennox-gastaut-syndrome-evidence-from-clinical-trials-and-clinical-practice
#10
Pasquale Striano, Rob McMurray, Estevo Santamarina, Mercè Falip
Rufinamide was granted orphan drug status in 2004 for the adjunctive treatment of seizures associated with Lennox-Gastaut syndrome in patients aged ≥4 years, and was subsequently approved for this indication in several countries, including Europe and the United States. Structurally unrelated to other antiepileptic drugs, rufinamide is thought to act primarily by prolonging the inactivation phase of voltage-gated sodium channels. Rufinamide was approved on the basis of an international, randomised, placebo-controlled Phase III trial, conducted in 138 patients with Lennox-Gastaut syndrome, which demonstrated its favourable tolerability profile and efficacy in significantly reducing the frequency of drop attacks and total seizures, compared with placebo...
January 9, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29313214/backbone-and-side-chain-chemical-shift-assignments-of-the-kringle-domain-of-human-receptor-tyrosine-kinase-like-orphan-receptor-1-ror1
#11
Xiaofang Ma, Yingying Zhang, Bin Liu, Jiahui Yang, Kaifeng Hu
Receptor tyrosine kinase-like orphan receptor 1 (ROR1) expresses at high level in many cancers and has been suggested as a potential therapeutic target. It was reported that the Kringle (KNG) domain of ROR1 extracellular region is involved in ROR1/ROR2 heterooligomerization. Monoantibodies that target KNG domain of ROR1 could induce apoptosis of chronic lymphocytic leukemia cells. Here we present the backbone and side chain assignments of KNG domain of ROR1, which lays a foundation for its further structural and function research...
January 8, 2018: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/29310675/failure-to-shorten-the-diagnostic-delay-in-two-ultra-orphan-diseases-mucopolysaccharidosis-types-i-and-iii-potential-causes-and-implications
#12
Gé-Ann Kuiper, Olga L M Meijer, Eveline J Langereis, Frits A Wijburg
BACKGROUND: Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a disease-modifying treatment is available. The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis I (MPS I) and III (MPS III), both of which are lysosomal storage disorders with different phenotypic severities (MPS 1 is characterized by the severe Hurler and the more attenuated non-Hurler phenotypes, MPS III is characterized by the severe rapidly progressing (RP) phenotype and more attenuated slowly progressing (SP) phenotype)...
January 8, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29303328/orphan-spins-in-the-s-5-2-antiferromagnet-cafe_-2-o_-4
#13
C Stock, E E Rodriguez, N Lee, F Demmel, P Fouquet, M Laver, Ch Niedermayer, Y Su, K Nemkovski, M A Green, J A Rodriguez-Rivera, J W Kim, L Zhang, S-W Cheong
CaFe_{2}O_{4} is an anisotropic S=5/2 antiferromagnet with two competing A (↑↑↓↓) and B (↑↓↑↓) magnetic order parameters separated by static antiphase boundaries at low temperatures. Neutron diffraction and bulk susceptibility measurements, show that the spins near these boundaries are weakly correlated and a carry an uncompensated ferromagnetic moment that can be tuned with a magnetic field. Spectroscopic measurements find these spins are bound with excitation energies less than the bulk magnetic spin waves and resemble the spectra from isolated spin clusters...
December 22, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29302320/knowledge-about-mother-to-child-transmission-of-hiv-its-prevention-and-associated-factors-among-ethiopian-women
#14
Tegene Regassa Luba, Zhanchun Feng, Simon Afewerki Gebremedhin, Asfaw N Erena, Abdulsalam Ma Nasser, Ghose Bishwajit, Shangfeng Tang
Background: Poor awareness and knowledge of mother-to-child transmission (MTCT),that accounts for over 90% of new HIV infections among children, might contribute to the HIV epidemics. In Ethiopia, 898 400 children are orphaned due to HIV and AIDS and 200 300 were living with HIV in 2013. The main objective of this study was to examine the knowledge of MTCT of HIV, its prevention (PMTCT) and associated factors among Ethiopian women. Methods: We conducted a cross-sectional analysis among 16 515 women from the Ethiopian Demographic Health Survey (EDHS) 2011...
December 2017: Journal of Global Health
https://www.readbyqxmd.com/read/29301098/an-antimicrobial-peptide-and-its-neuronal-receptor-regulate-dendrite-degeneration-in-aging-and-infection
#15
Lezi E, Ting Zhou, Sehwon Koh, Marian Chuang, Ruchira Sharma, Nathalie Pujol, Andrew D Chisholm, Cagla Eroglu, Hiroaki Matsunami, Dong Yan
Infections have been identified as possible risk factors for aging-related neurodegenerative diseases, but it remains unclear whether infection-related immune molecules have a causative role in neurodegeneration during aging. Here, we reveal an unexpected role of an epidermally expressed antimicrobial peptide, NLP-29 (neuropeptide-like protein 29), in triggering aging-associated dendrite degeneration in C. elegans. The age-dependent increase of nlp-29 expression is regulated by the epidermal tir-1/SARM-pmk-1/p38 MAPK innate immunity pathway...
January 3, 2018: Neuron
https://www.readbyqxmd.com/read/29299833/engagement-of-canadian-patients-with-rare-diseases-and-their-families-in-the-lifecycle-of-therapy-a-qualitative-study
#16
Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani, Tania Stafinski
INTRODUCTION: Patient involvement is increasingly recognized as critical to the development, introduction and use (i.e. the lifecycle) of new and effective therapies, particularly those for rare diseases, where natural histories and the impact on patients and families are less well-understood than for common diseases. However, little is known about how patients and families would like to be involved during the lifecycle. OBJECTIVE: The aim of this study was to explore ways in which Canadian patients with rare diseases and their families would like to be involved in the lifecycle of therapies and identify their priorities for involvement...
January 3, 2018: Patient
https://www.readbyqxmd.com/read/29299171/melatonin-up-regulates-the-expression-of-the-gata-4-transcription-factor-and-increases-testosterone-secretion-from-leydig-cells-through-ror%C3%AE-signaling-in-an-in-vitro-goat-spermatogonial-stem-cell-differentiation-culture-system
#17
Shou-Long Deng, Yan Zhang, Kun Yu, Xiu-Xia Wang, Su-Ren Chen, De-Ping Han, C Yan Cheng, Zheng-Xing Lian, Yi-Xun Liu
Because androgen function is regulated by its receptors, androgen-androgen receptor signaling is crucial for regulating spermatogenesis. Androgen is mainly testosterone secreted by testis. Based on the results of early studies in goats, the administration of melatonin over an extended period of time increases steroid production, but the underlying mechanism remains unclear. Here, we report the expression of the melatonin membrane receptors MT1 and MT2 and the retinoic acid receptor-related orphan receptor-alpha (RORα) in the goat testis...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29298833/production-of-il-17-by-mait-cells-is-increased-in-multiple-sclerosis-and-is-associated-with-il-7-receptor-expression
#18
Anne Willing, Jan Jäger, Stefanie Reinhardt, Nina Kursawe, Manuel A Friese
Multiple sclerosis (MS) is a T cell-driven inflammatory disease of the CNS. Research on T cell subsets involved in MS pathogenesis has mainly focused on classical CD4+ T cells, especially Th17 cells, as they produce the proinflammatory, MS-associated cytokine IL-17. However, the abundant unconventional mucosal-associated invariant T (MAIT) cells are also able to produce IL-17. MAIT cells are characterized by high CD161 expression and a semi-invariant Vα7.2 TCR, with which they recognize bacterial and yeast Ags derived from the riboflavin (vitamin B2) metabolism...
January 3, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29298813/gpcrs-as-targets-for-approved-drugs-how-many-targets-and-how-many-drugs
#19
Krishna Sriram, Paul A Insel
Estimates vary regarding the number of G protein-coupled receptors, GPCRs, the largest family of membrane receptors that are targeted by approved drugs and the number of such drugs that target GPCRs. We review current knowledge regarding GPCRs as drug targets by integrating data from public databases (CHEMBL, IUPHAR and DRUGBANK) and from the Broad drug repurposing initiative. To account for discrepancies among these sources, we curated a list of GPCRs currently targeted by approved drugs. As of November, 2017, 134 GPCRs are targets for drugs approved in the United States or European Union; 128 GPCRs are targets for drugs listed in the FDA orange book...
January 3, 2018: Molecular Pharmacology
https://www.readbyqxmd.com/read/29296975/cell-surface-c-type-lectin-like-receptor-clec-1-dampens-dendritic-cell-activation-and-downstream-th17-responses
#20
Maria Dolores Lopez Robles, Annaick Pallier, Virginie Huchet, Laetitia Le Texier, Severine Remy, Cecile Braudeau, Laurence Delbos, Aurelie Moreau, Cedric Louvet, Carole Brosseau, Pierre-Joseph Royer, Antoine Magnan, Franck Halary, Regis Josien, Maria-Cristina Cuturi, Ignacio Anegon, Elise Chiffoleau
Dendritic cells (DCs) represent essential antigen-presenting cells that are critical for linking innate and adaptive immunity, and influencing T-cell responses. Among pattern recognition receptors, DCs express C-type lectin receptors triggered by both exogenous and endogenous ligands, therefore dictating pathogen response, and also shaping T-cell immunity. We previously described in rat, the expression of the orphan C-type lectin-like receptor-1 (CLEC-1) by DCs and demonstrated in vitro its inhibitory role in downstream T helper 17 (Th17) activation...
March 28, 2017: Blood Advances
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