Results 101 to 110 of about 305,564 (250)
Molecular and Cellular PediatricsBackground This study aimed to identify GBA1 variants in Egyptian Gaucher disease (GD) patients residing in a region with high consanguinity and to correlate these genotypes with their clinical phenotypes.
Mervat A. M. Youssef +5 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette +13 more
wiley +1 more source
The Phenotype/Genotype Correlation of Lactase Persistence among Omani Adults
Oman Medical Journal, 2013 Objective: To examine the correlation of lactase persistence phenotype with genotype in Omani adults.Methods: Lactase persistence phenotype was tested by hydrogen breath test in 52 Omani Adults using the Micro H2 analyzer.
Abdulrahim Al-Abri, Riad Bayoumi
doaj +1 more source
Advanced Healthcare Materials, EarlyView.Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram +10 more
wiley +1 more source
International Journal of Endocrinology, 2012 Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus ...
Donatella Capalbo +8 more
doaj +1 more source
Respiratory Organ‐on‐a‐Chip for Disease Modeling: From Architecture to Functional Integration
Advanced Healthcare Materials, EarlyView.Respiratory organ‐on‐a‐chip (ROC) models capture key mechanical and cellular cues of the human respiratory system, enabling quantitative dissection of disease mechanisms. This review links ROC architectures to disease modeling, functional integration, and commercialization, and proposes a decision framework that aligns model complexity with mechanistic
Jinzhuo Hu +4 more
wiley +1 more source
Advanced Materials, EarlyView.An overview of design principles and scalable fabrication strategies for multifunctional bio‐based packaging. Radiative cooling films, modified‐atmosphere films/membranes, active antimicrobial/antioxidant platforms, intelligent optical/electrochemical labels, and superhydrophobic surfaces are co‐engineered from material chemistry to mesoscale structure
Lei Zhang +6 more
wiley +1 more source
Advanced Science, EarlyView.We demonstrated that high humidity worsened psoriasis relapse in murine psoriasiform skin inflammation by increasing skin‐resident memory CD8+ cells via upregulating IL‐15Rα on keratinocytes. The increases in IL‐15Rα and memory CD8+ cells were attributed to S. nepalensis and its metabolite ADMA in skin exposed to high humidity.
Chun‐Ling Liang +10 more
wiley +1 more source
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Scientific Reports, 2017 Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries.
Rafael Sivera +31 more
doaj +1 more source
Advanced Science, EarlyView.Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun +7 more
wiley +1 more source