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
Zinc homeostasis dysregulation in elderly patients with acute ischemic stroke: a multidimensional analysis integrating metallothionein, FADS1 activity, oxidative stress, and DNA integrity markers. [PDF]
Front NeurolZhou J +8 more
europepmc +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Lifestyle and hormonal factors affecting semen quality and sperm DNA integrity: A cross-sectional study. [PDF]
OncoscienceChamanmalik SI, Nerli RB, Umarane P.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Non-invasive assessment of stem cell DNA integrity in response to environmental stressors. [PDF]
Sci RepWang J, Zhou Y, Zhuo L, Yan B, Ma L.
europepmc +1 more source
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
Chitosan-coated nano-green-tea (Nano-GTE) in a tris-soybean lecithin extender improves post-thaw motility, antioxidant status, DNA integrity, and fertility of Ossimi Ram Semen. [PDF]
Sci RepGabr SA +6 more
europepmc +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Quercetin and nanoquercetin mitigate high fat diet-induced obesity via lipid modulation, genomic DNA integrity restoration, adipokine regulation, and hepato-pancreatic tissue preservation. [PDF]
Sci RepLotify MA, Abdelgayed SS, Mohamed HRH.
europepmc +1 more source