Results 81 to 90 of about 331,596 (261)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Red Blood Cell Proteomics: Challenges in biomarker discovery for clinical applications
, 2017 Introduction This thesis describes the application of mass-spectrometry-based approaches on the cytosolic red blood cell (RBC) proteome in gaining improved understanding and insight into the metabolic effects and mechanisms of rare hereditary RBC defects
Barasa, B.A. +1 more
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Benchmarking stable isotope labeling based quantitative proteomics.
, 2013 Several quantitative mass spectrometry based technologies have recently evolved to interrogate the complexity, interconnectivity and dynamic nature of proteomes.
Mohammed, S +19 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Novel (pospho-)proteomics approaches to study aging and senescence
, 2014 This thesis describes the application of proteomics technologies to further increase the knowledge about aging and cancer suppression mechanisms. The core tool in all performed experiments is mass spectrometry based proteomics.
de Graaf, E.L. +2 more
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β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Advanced 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
metaProt: A Proteomics Metaclassification
, 2008 There is a recognized need for a proteomics metaclassification which can serve as a foundation for more refined classifications and ontologies. metaProt is a manually curated proteomics metaclassification, comprising a large collection of relations ...
Proteomics Metaclassification +1 more
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