Results 41 to 50 of about 120,158 (339)

Turning Points in the Evolution of Isolated Neutron Stars' Magnetic Fields [PDF]

open access: yes, 2006
During the life of isolated neutron stars (NSs) their magnetic field passes through a variety of evolutionary phases. Depending on its strength and structure and on the physical state of the NS (e.g.
A. Alpar   +92 more
core   +2 more sources

Homologous expression and purification of human HAX‐1 for structural studies

open access: yesFEBS Open Bio, EarlyView.
This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

open access: yesFEBS Open Bio, EarlyView.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

open access: yesMolecular Genetics and Metabolism Reports, 2019
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger   +7 more
doaj   +1 more source

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

open access: yesMolecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares   +13 more
doaj   +1 more source

Understanding Morality in the Religion-and-Science Context [PDF]

open access: yes, 2012
Recent developments in biotechnology require re/definition of human \"being.\" In this paper, the author suggests that the term \"human being \" is substituted with \"human betweenness.\" This substitution emerges from a philosophical/theological reading
Park, Iljoon
core   +1 more source

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

DYSTROPHIC EPIDERMOLYSIS BULLOSA: CASE SERIES OF THREE RELATED PATIENTS

open access: yesCentral Asian Journal of Medical Hypotheses and Ethics
Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare inherited skin disorder characterized by blistering, chronic wounds, and scarring due to mutations in the COL7A1 gene. While epidemiological data are available from certain regions, information
Ulpan Zharylkap   +2 more
doaj   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu   +5 more
wiley   +1 more source

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