Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar +3 more
wiley +1 more source
Clinical Significance of Pre-to-Postoperative Dynamics of Aspartate Transaminase/Alanine Transaminase Ratio in Predicting the Prognosis of Renal Cell Carcinoma after Surgical Treatment. [PDF]
Dis Markers, 2020 Kang M +7 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 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
Animal Models and Experimental Medicine, EarlyView.Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni +7 more
wiley +1 more source
Diagnostic value of the γ-glutamyltransferase and alanine transaminase ratio, alpha-fetoprotein, and protein induced by vitamin K absence or antagonist II in hepatitis B virus-related hepatocellular carcinoma. [PDF]
Sci Rep, 2020 Wang G +6 more
europepmc +1 more source
Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats
Animal Models and Experimental Medicine, EarlyView.Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček +3 more
wiley +1 more source
Multicomponent prediction of 2-year mortality and amputation in patients with diabetic foot using a random survival forest model: Uric acid, alanine transaminase, urine protein and platelet as important predictors. [PDF]
Int Wound JLi M +7 more
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.Transcriptome sequencing identified secreted phosphoprotein 1 (SPP1) as a crucial target through which methylophiopogonanone A (MOA) ameliorates pulmonary fibrosis. Molecular docking and microscale thermophoresis (MST) assays confirmed a favorable binding affinity between MOA and SPP1.
Fan Yang +10 more
wiley +1 more source