Results 41 to 50 of about 270,959 (189)

The correlation between HTA recommendations and reimbursement status of orphan drugs in Europe [PDF]

, 2016
Background The aim of this study was to review and compare types of reimbursement recommendations for orphan drugs issued by eight European health technology assessment (HTA) agencies and the reimbursement status of these drugs in the corresponding ...
Kawalec, Paweł, Pilc, Andrzej, Sagan, Anna   +2 more
core   +2 more sources

Mass spectrometry based identification of AMP‐O‐Tris generated by Thermococcus onnurineus Cas10

FEBS Open Bio, EarlyView.
Isolated Thermococcus onnurineus Cas10 generates the noncanonical ATP‐derived product AMP‐O‐Tris while in Tris‐containing buffer as identified via mass spectrometry, revealing relaxed nucleophile selectivity under isolated conditions. These findings suggest that multiprotein Csm complex assembly restricts Cas10 reactivity toward canonical cyclic ...
Su‐Jin Lee, Ga Seul Lee, JinHan Kim, Kwang‐Hyun Park, Seong‐Ryung Go, Jeong Hee Moon, Eui‐Jeon Woo   +6 more
wiley   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

The Greatest Book You Will Never Read: Public Access Rights and the Orphan Works Dilemma [PDF]

, 2012
Copyright law aims to promote the dual goals of incentivizing production of literary and artistic works, and promoting public access and free speech.
Greismann, Libby
core   +2 more sources

C/D box snoRNA SNORD113-6 guides 2′-O-methylation and protects against site-specific fragmentation of tRNALeu(TAA) in vascular remodeling

Molecular Therapy: Nucleic Acids, 2022
C/D box small nucleolar RNAs (snoRNAs) of the DLK1-DIO3 locus are associated with vascular remodeling and cardiovascular disease. None of these snoRNAs has any known targets yet except for one, AF357425/SNORD113-6.
Eva van Ingen, Pleun A.M. Engbers, Tamar Woudenberg, M. Leontien van der Bent, Hailiang Mei, Johann Wojta, Paul H.A. Quax, A. Yaël Nossent   +7 more
doaj   +1 more source

Applying Copyright Abandonment in the Digital Age [PDF]

, 2010
Copyright law protects orphan and parented works equally--but it shouldn\u27t. Consequently, current law unnecessarily restrains public access to works that authors have not exercised dominion over for decades.
Turetzky, Matthew W.
core   +1 more source

Testing two-component jet models of GRBs with orphan afterglows

, 2010
In the \swift era, two-component jet models were introduced to explain the complex temporal profiles and the diversity of early afterglows. In this paper, we concentrate on the two-component jet model; first component is the conventional afterglow and ...
Inayoshi, Kohei, Tsutsui, Ryo
core   +1 more source

Functional classification of G-Protein coupled receptors, based on their specific ligand coupling patterns [PDF]

, 2006
Functional identification of G-Protein Coupled Receptors (GPCRs) is one of the current focus areas of pharmaceutical research. Although thousands of GPCR sequences are known, many of them re- main as orphan sequences (the activating ligand is unknown ...
Bakır, Burcu, Sezerman, Uğur
core   +1 more source

Measurements of gamma-ray production cross sections for shielding materials of space nuclear systems [PDF]

, 1972
Measurements of secondary gamma ray production from neutron interactions have been made over the entire energy range of interest in shielding applications.
Hoot, C. G., John, J., Orphan, V. J.
core   +1 more source