Results 71 to 80 of about 963,191 (312)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li   +2 more
wiley   +1 more source

Rationale and study design of an early care, therapeutic education, and psychological intervention program for the management of post-intensive care syndrome and chronic pain after COVID-19 infection (PAIN-COVID): study protocol for a randomized controlled trial

open access: yesTrials, 2021
Background Critically ill patients with COVID-19 are an especially susceptible population to develop post-intensive care syndrome (PICS) due to acute respiratory distress syndrome (ARDS).
Antonio Ojeda   +9 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Ontology-driven hypothesis generation to explain anomalous patient responses to treatment [PDF]

open access: yes, 2009
Within the medical domain there are clear expectations as to how a patient should respond to treatments administered. When these responses are not observed it can be challenging for clinicians to understand the anomalous responses. The work reported here
Hughes, Martin   +26 more
core   +1 more source

Assessment of Frequency and Predictive Value of Comorbidities in Patients With Disorders of Consciousness in the Acute Setting

open access: yesNeurotrauma Reports
Medical comorbidities are frequent in patients with disorders of consciousness (DoC) and their impact on outcomes is under investigation. The aim of this study was to investigate patients with DoC in the acute stage and the influence of comorbidities ...
Gennaro Saporito   +8 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

open access: yesFEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai   +9 more
wiley   +1 more source

Statin therapy in critical illness : an international survey of intensive care physicians' opinions, attitudes and practice [PDF]

open access: yes, 2012
Background Pleotropic effects of statins on inflammation are hypothesised to attenuate the severity of and possibly prevent the occurrence of the host inflammatory response to pathogen and infection-related acute organ failure.
Kruger, Peter S.   +18 more
core   +1 more source

Bomba de infusão de insulina em diabetes melito tipo 1 Insulin pump therapy in type 1 diabetes mellitus

open access: yesJornal de Pediatria, 2006
OBJETIVO: Rever a experiência com a utilização da bomba de infusão de insulina em crianças e adolescentes, a fim de orientar o pediatra quanto às suas indicações e complicações. FONTE DOS DADOS : Foi realizada revisão sistemática de artigos publicados em
Raphael Del Roio Liberatore Jr.   +1 more
doaj   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

open access: yesFEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto   +3 more
wiley   +1 more source

Exploring the global immune landscape of peripheral blood mononuclear cells in H5N6-infected patient with single-cell transcriptomics

open access: yesBMC Medical Genomics, 2023
Background Avian influenza viruses (AIV), particularly H5N6, have risen in infection frequency, prompting major concerns. Single-cell RNA sequencing (scRNA-seq) can illustrate the immune cell landscape present in the peripheral circulation of influenza ...
Jiamin Gao   +9 more
doaj   +1 more source

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