Results 41 to 50 of about 448,957 (296)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Performance of Composite Endpoints Defining Progression Independent of Relapse Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos, Sean Yiu, Jason Reucassel, Jiwon Oh, Cristina Granziera, Joep Killestein, Robert A. Bermel, Claude Berge, Agne Kazlauskaite, Hans‐Martin Schneble, Frank Dahlke, Bruce A. C. Cree   +11 more
wiley   +1 more source

CD3ζ-Mediated Signaling Protects Retinal Ganglion Cells in Glutamate Excitotoxicity of the Retina

Cells
Excessive levels of glutamate activity could potentially damage and kill neurons. Glutamate excitotoxicity is thought to play a critical role in many CNS and retinal diseases.
Rui Du, Ping Wang, Ning Tian
doaj   +1 more source

Comparative Effect of Standard Versus Extended Interval Dosing of Rituximab or Ocrelizumab in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aimed to investigate the comparative effectiveness of standard versus personalized extended interval dosing of anti‐CD20 therapy on clinical and sub‐clinical outcomes in multiple sclerosis. Methods Clinical information was collected prospectively on Research Electronic Data Capture.
Nabil K. El Ayoubi, Fares Fahd, Hani Tamim, Salem Hannoun, Mark Bal, Elham El‐Hallak, Samia J. Khoury   +6 more
wiley   +1 more source

Comparison of the Fixation Effects of Six Composite Fixatives on Retinal Tissue of Golden Hamsters

Shiyan dongwu yu bijiao yixue
Objective To compare the effects of six composite fixatives on paraffin sections of golden hamster retinal tissue, and to optimize the fixation methods for retinal tissue paraffin sections of golden hamsters.
WU Haifeng, ZHOU Xiaojiang, LI Chenjiang, LI Huaiyin, GAO Ming   +4 more
doaj   +1 more source

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, Fabian Föttinger, Theresa König, Martin Krenn, Lukas Haider, Barbara Kornek, Fritz Leutmezer, Kerstin U. Ludwig, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Tobias Zrzavy, Gudrun Zulehner, Franziska Di Pauli, Axel Schmidt, Harald Hegen, Berthold Pemp, Thomas Berger   +22 more
wiley   +1 more source

Retinal Vibrations in Bacteriorhodopsin are Mechanically Harmonic but Electrically Anharmonic: Evidence From Overtone and Combination Bands

Frontiers in Molecular Biosciences, 2021
Fundamental vibrations of the chromophore in the membrane protein bacteriorhodopsin (BR), a protonated Schiff base retinal, have been studied for decades, both by resonance Raman and by infrared (IR) difference spectroscopy.
Victor A. Lorenz-Fonfria, Kiyoshi Yagi, Shota Ito, Hideki Kandori, Hideki Kandori   +4 more
doaj   +1 more source

Microphysiological Glomerular Filtration Barriers: Current Insights, Innovations, and Future Applications

Advanced Biology, EarlyView.
The glomerular filtration barrier (GFB) is the first step of blood filtration by the kidneys. The concerning increase of kidney diseases makes the development of new models essential. In this context, microphysiological glomerular filtration barriers focus on closely reproducing the physiological architecture of the in vivo GFB: podocytes, glomerular ...
Manon Miran, Kieu Ngo, David Buob, Hanna Debiec, Pierre Ronco, Guillaume Perry   +5 more
wiley   +1 more source

Uptake and metabolism of retinol (vitamin A) in the isolated perfused rat liver

Journal of Lipid Research, 1965
The isolated perfused liver was employed to study various aspects of retinol-C14 metabolism. The rate of uptake of retinol, retinal, retinoic acid, and retinol acetate was rapid (first-order rate constant, k = 0.12–0.16 min−1) during the first 3–10 min ...
Richard D. Zachman, James Allen Olson
doaj  

PSF functions as a repressor of hypoxia-induced angiogenesis by promoting mitochondrial function

Cell Communication and Signaling, 2021
Background Abnormal neovascularization is the most common cause of blindness, and hypoxia alters tissue metabolism, function, and morphology. HIF-1α, the transcriptional activator of VEGF, has intricate mechanisms of nuclear translocation and activation,
Lijie Dong, Wenbo Li, Tingting Lin, Boshi Liu, Yaru Hong, Xiaomin Zhang, Xiaorong Li   +6 more
doaj   +1 more source