Results 71 to 80 of about 6,761,337 (191)
Cancer Medicine, 2020 Early identification of metastatic or recurrent colorectal cancer (CRC) patients who will be sensitive to FOLFOX (5‐FU, leucovorin and oxaliplatin) therapy is very important.
Wei Lu +12 more
doaj +1 more source
Analysis of polymorphic marker rs9384 located in the GCDH gene region associated with glutaricaciduria type 1. [PDF]
, 2016 زمینه و هدف: گلوتاریک اسید یوریای نوع 1 نوعی اختلال متابولیکی عصبی می باشد که در اثر جهش در ژن رمز کننده آنزیم گلوتاریل کوآدهیدروژناز (GCDH) ایجاد می شود.
Badr, Zahra. +3 more
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Movement Disorders Presenting in Childhood. [PDF]
, 2016 PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core +1 more source
Advanced Science, Volume 13, Issue 7, 3 February 2026.Glutamine deprivation triggers ACSL5 upregulation in tumor cells, sustaining their viability via dual metabolic rewiring programs. ACSL5 enhances glycolysis by relieving p53's inhibition of PGAM1 while also sustaining mitochondrial respiration and TCA cycle flux through promoting IDH2 dimerization.
Shuai Tian +11 more
wiley +1 more source
Single‐cell analysis reveals neuroprotective histone deacetylase inhibitor pathways
Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.Abstract INTRODUCTION Alzheimer's disease (AD) involves β‐amyloid (Aβ) accumulation, tau pathology, and neuroinflammation, driving cognitive decline. Despite extensive research, disease‐modifying therapies remain elusive. We integrated single‐cell RNA sequencing (scRNA‐seq), spatial transcriptomics, and in vitro validation to identify repurposable ...
Madeline Peyton +12 more
wiley +1 more source
Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations [PDF]
, 2010 Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase. Although over 400 patients confirmed as GA I have been reported, reports from the Asian population had contributed to the minor ...
Chae, Jong Hee +9 more
core +2 more sources
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise [PDF]
, 2020 Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic diseases. Increasing awareness, reliable diagnostic work-up, newborn screening programs for some OADs, optimized neonatal and intensive care, and the development of ...
Baumgartner, M.R. (Matthias) +7 more
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Nuclear factor erythroid-2-related factor 2 signaling in the neuropathophysiology of inherited metabolic disorders [PDF]
, 2021 Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs, predominantly the central nervous system. Since treatment for a large number of IMDs is limited, there is an urgent need to find novel therapeutical targets ...
Grings, Mateus +4 more
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Deciphering the Transcriptomic Signatures of Aging Across Organs in Mice
Aging Cell, Volume 25, Issue 2, February 2026.Comprehensive transcriptomic profiling of eight mouse organs across six ages reveals how aging reshapes biological processes. Trajectory and network analyses distinguish shared and organ‐specific signatures, charting the molecular landscape of systemic aging.
Sarah Morsy +9 more
wiley +1 more source
Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]
, 2015 This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
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