Results 211 to 220 of about 1,267,182 (359)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yesSci Rep
Guerrero-Castillo S   +9 more
europepmc   +1 more source

Bound Water of Gelatin Gels [PDF]

open access: bronze, 1933
Dorothy Jordan Lloyd, T. F. Moran
openalex   +1 more source

Assessment of skin in patients with systemic sclerosis using high‐frequency ultrasound and shear wave elastography: A comparative study with histology, molecular and clinical parameters

open access: yesArthritis Care &Research, Accepted Article.
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

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

open access: yesAdvanced Biology, Volume 9, Issue 3, March 2025.
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]

open access: yesPolymers (Basel)
Adamczyk G   +7 more
europepmc   +1 more source

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