Results 61 to 70 of about 1,974,376 (233)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Adaptive evolution of proteins in hepatitis B virus during divergence of genotypes

Scientific Reports, 2017
Hepatitis B virus (HBV) is classified into several genotypes, correlated with different geographic distributions, clinical outcomes and susceptible human populations.
Shengdi Li, Zhen Wang, Yixue Li, Guohui Ding   +3 more
doaj   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park, Eun‐Hyuk Choi, Jorge Otero‐Millan, David S. Zee, Jeong‐Yoon Choi, Ji‐Soo Kim   +5 more
wiley   +1 more source

Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein–coupled receptors

Journal of Biological Chemistry, 2019
The pace of deorphanization of G protein–coupled receptors (GPCRs) has slowed, and new approaches are required. Small molecule targeting of orphan GPCRs can potentially be of clinical benefit even if the endogenous receptor ligand has not been identified.
R. Dershem, R. Metpally, Kirk Jeffreys, Sarath Babu Krishna Murthy, D. Smelser, M. Hershfinkel, D. Carey, J. Robishaw, G. Breitwieser   +8 more
semanticscholar   +1 more source

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations. [PDF]

, 2011
Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of that condition.
Bacanu, S.A., E S Manas, Kong, X., Aponte, J., Manas, ES, S-A Bacanu, Cardon, L., Song, K, Nelson, MR, K Song, J Aponte, X Kong, Whittaker, JC, M R Nelson, Manas, E.S., Yuan, X., D M Waterworth, Whittaker, J.C., Kong, X, Cardon, L, Waterworth, DM, Yuan, X, L Cardon, Mooser, V.E., X Yuan, Song, K., Aponte, J, Bacanu, S-A, Nelson, M.R., Mooser, VE, J C Whittaker, Waterworth, D.M., V E Mooser   +32 more
core   +1 more source

Thermomechanical Fatigue and Creep–Fatigue Interaction of Inconel 718 Additively Manufactured by Laser Beam Powder Bed Fusion

Advanced Engineering Materials, EarlyView.
Thermomechanical fatigue tests of laser beam powder bed fusion (PBF‐LB) Inconel 718 show that the additively manufactured material reaches almost the lifetimes of conventionally‐rolled material under no‐dwell conditions. Introducing dwell times at the maximum temperature markedly reduces the lifetimes due to pronounced grain boundary sliding associated
Stefan Guth, Tomáš Babinský, Jan Lars Riedel, Wen Hao Kan, Aijun Huang, Martin Heilmaier, Ivo Šulák   +6 more
wiley   +1 more source

Structural constraints on RNA virus evolution [PDF]

, 1999
The recently discovered hepatitis G virus (HGV) or GB virus C (GBV-C) is widely distributed in human populations, and homologues such as HGV/GBV-CCPZ and GBV-A are found in a variety of different primate species.
Smith, D B, Simmonds, P
core  

Fostering Innovation: Streamlining Magnetocaloric Materials Research by Digitalization

Advanced Engineering Materials, EarlyView.
Magnetocaloric cooling (MCE) is an environmentally friendly refrigeration method with great potential. Optimizing MCE materials involves the preparation and screening of large quantities of samples, which in turn generates a large amount of data. A digitalization approach is presented that uses ontologies, knowledge graphs, and digital workflows to ...
Simon Bekemeier, Moritz Blum, Luana Caron, Alisa Chirkova, Philipp Cimiano, Basil Ell, Inga Ennen, Michael Feige, Maik Gaerner, Thomas Hilbig, Andreas Hütten, Günter Reiss, Tapas Samanta, Sonja Schöning, Christian Schröder, Lennart Schwan, Chris Taake, Martin Wortmann   +17 more
wiley   +1 more source

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

Human Molecular Genetics, 2018
Pigmentary glaucoma (PG) is a common glaucoma subtype that results from release of pigment from the iris, called pigment dispersion syndrome (PDS), and its deposition throughout the anterior chamber of the eye.
Adrian A. Lahola-Chomiak, T. Footz, Nguyen-Phuoc Kim, Gavin J. Neil, B. Fan, Keri F. Allen, D. Greenfield, R. Parrish, Kevin Linkroum, L. Pasquale, Ralf M. Leonhardt, R. Ritch, Shari Javadiyan, J. Craig, W. T. Allison, O. Lehmann, M. A. Walter, J. Wiggs   +17 more
semanticscholar   +1 more source

Is an Apple an Orange? A Large Language Model Benchmark for Candidate Term Extraction and Subclass Decisions Against Upper Ontologies in Engineering and Materials Science

Advanced Engineering Materials, EarlyView.
Building machine‐readable vocabularies for materials science is slow, expert‐driven work. This study benchmarks 13 large language models on two of its first steps: finding candidate terms in engineering articles and deciding where they belong in a class hierarchy.
Thomas Bjarsch, Maximilian Holland, Klaus Drechsler, Johannes Schilp   +3 more
wiley   +1 more source