Results 141 to 150 of about 2,049,340 (295)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders. [PDF]

J Inherit Metab Dis
Schwantje M, van Brussel M, Takken T, de Sain-van der Velden MGM, Langeveld M, Visser G, Fuchs SA.   +6 more
europepmc   +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

Community Structure and Function of Aerobic Methanotrophs in Urban River Sediments: A Case Study of the Jialing River. [PDF]

Environ Microbiol Rep
Mo Y, Huang J, Hu M, Lu L, Shaaban M.
europepmc   +1 more source

Heat of reaction of diborane with water and the heat of formation of boric oxide

, 1959
E.J. Prosen, Walter H. Johnson, F.Y. Pergiel   +2 more
openalex   +1 more source

Metabolic Consequences of Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry, Emily Sheng, Joshua F. Baker   +2 more
wiley   +1 more source

Catalysis of Synergistic Reactions by Host–Guest Assemblies: Reductive Carbonylation of Nitrobenzenes

JACS Au, 2023
Jinhui Wang, Yanwei Cao, Qing-Wei Meng, Yaowei Wang, Huibing Shi, Baolin Feng, Yang Huang, Qi Sun, Lin He   +8 more
doaj   +1 more source

Photocatalytic oxidation of tyrosine using colloidal CdS particles under visible light irradiation. [PDF]

Sci Rep
Rizal P, Negi DPS.
europepmc   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

Advanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe, Samantha Kaonis, Natalie Calahan, Neda Kabi, Soham Ghosh   +4 more
wiley   +1 more source

Fully exposed Pt_n cluster catalysts enable cascade oxidation of polyol to dicarboxylic acid. [PDF]

Nat Commun
Yan H, Li J, Rao Z, Liao Y, Li Y, Zhou X, Meng F, Li L, Zhang B, Qin Y, Zhao H, Liu Y, Chen X, Feng X, Chen, Yang C, Ma D.   +16 more
europepmc   +1 more source