Results 231 to 240 of about 1,389,274 (311)

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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Short-term changes in human metabolism following a 5-h delay of the light-dark and behavioral cycle. [PDF]

iScience
Flanagan A, Ruddick-Collins LC, Fielding B, Middleton B, von Gerichten J, Short M, Revell V, Mendis J, Mayer CD, Morgan PJ, Johnstone AM, Johnston JD.   +11 more
europepmc   +1 more source

Analysis of human metabolism by reducing the complexity of the genome-scale models using redHUMAN. [PDF]

Nat Commun, 2020
Masid M, Ataman M, Hatzimanikatis V.
europepmc   +1 more source

Human Metabolism [PDF]

Nature, 1920
openaire   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

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, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Human metabolism of the semi-synthetic cannabinoids hexahydrocannabinol, hexahydrocannabiphorol and their acetates using hepatocytes and urine samples. [PDF]

Drug Test Anal
Lindbom K, Norman C, Baginski S, Krebs L, Stalberga D, Rautio T, Wu X, Kronstrand R, Gréen H.   +8 more
europepmc   +1 more source

Commentary: Dietary methionine influences therapy in mouse cancer models and alters human metabolism. [PDF]

Front Oncol, 2020
Abid MA, Abid MB.
europepmc   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Human metabolism of four synthetic benzimidazole opioids: isotonitazene, metonitazene, etodesnitazene, and metodesnitazene. [PDF]

Arch Toxicol
Taoussi O, Berardinelli D, Zaami S, Tavoletta F, Basile G, Kronstrand R, Auwärter V, Busardò FP, Carlier J.   +8 more
europepmc   +1 more source

Author Correction: Analysis of human metabolism by reducing the complexity of the genome-scale models using redHUMAN. [PDF]

Nat Commun, 2020
Masid M, Ataman M, Hatzimanikatis V.
europepmc   +1 more source