Results 141 to 150 of about 191,359 (300)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Angewandte Chemie, EarlyView.Parallel mass spectrometry imaging acquires high mass resolution and tandem mass spectrometry images from 108 isolation windows in a single run. Spatial similarity networking clusters product ions by spatial distribution, enabling annotation of isomers and isobars as demonstrated for phospholipids and oxidized cholesterol in mouse and human brain ...
Varun V. Sharma +5 more
wiley +2 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source
Recent Trends in Metabolomics by NMR Spectroscopy
Angewandte Chemie, EarlyView.AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco +6 more
wiley +2 more sources
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Sex as a biological variable (SABV) is a critical determinant of pharmacokinetics, pharmacodynamics, and toxicity in nonclinical studies. This review highlights how inappropriate neglect of sex differences compromises animal welfare, scientific reproducibility, and regulatory compliance.
Kenta Onuma +2 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng +8 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi +9 more
wiley +1 more source
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Annals of Neurology, EarlyView.Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source