SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency. [PDF]
Guerrero-Castillo S +9 more
europepmc +1 more source
A thermochemical study of the reaction of calcium hydroxide, silica gel, and water
Edwin S. Newman
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Objective Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large‐scale comparison of US‐based assessment with histological markers of skin fibrosis has not been reported. We evaluated the US‐based skin assessments for their face validity (differentiation between involved SSc and ...
Ruhani Desai +12 more
wiley +1 more source
Microscopic Insight into Knudsen and Electromagnetic Effects on Thermal Conductivity of Closed Mesoporous Metal Gels. [PDF]
Yu H +5 more
europepmc +1 more source
The Use of Silica Gels for the Cultivation of Halophilic Organisms [PDF]
Helen Norris Moore
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β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio +11 more
wiley +1 more source
Molecular Properties of Starch-Water Interactions in the Presence of Bioactive Compounds from Barley and Buckwheat-LF NMR Preliminary Study. [PDF]
Adamczyk G +7 more
europepmc +1 more source

