Results 101 to 110 of about 17,750 (254)
Abi3S212F Alzheimer's disease variant alters plaque structure and disrupts microglia
Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.Abstract BACKGROUND Genetic variants affecting microglial function can influence Alzheimer's disease (AD) risk, yet the underlying mechanisms remain unclear. The AD‐associated ABI3S209F (Abi3S212F in mouse) variant regulates cytoskeletal dynamics, but its in vivo impact on pathology is unknown. METHODS: An Abi3S212F mouse was developed and crossed with
Claire A. Butler +29 more
wiley +1 more source
Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq
Oman Medical Journal, 2019 Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types. Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year.
Hassan A. Altimimi +2 more
doaj +1 more source
Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]
, 2019 Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard +3 more
core +1 more source
A New Conditional Transcription Factor for Use in Toxoplasma Gondii
Biotechnology Journal, Volume 21, Issue 5, May 2026.Graphical Abstract and Lay Summary A new conditional transcription factor (CTF) for Toxoplasma gondii reversibly regulates a reporter gene, achieving an outstanding signal‐to‐noise ratio. Gene expression is robust in the absence and nearly abolished in the presence of rapamycin, and the tool's modular design will facilitate application to varied genes ...
Mohammad Farouq Sharifpour +12 more
wiley +1 more source
Genetic and Ecological Divergence Between Northwest Atlantic Killer Whale Populations
Ecology and Evolution, Volume 16, Issue 5, May 2026.Killer whale (Orcinus orca) populations exhibit substantial genetic, ecological, and morphological differences across their global distribution. In this study, we use whole‐genome resequencing and compound‐specific stable isotope analysis of amino acids to show concurrent genetic and ecological differentiation in two relatively understudied killer ...
Caila E. Kucheravy +7 more
wiley +1 more source
Asian Journal of Medical SciencesBackground: Inborn errors of metabolism (IEM) refer to a group of hereditary disorders that occur due to the disruption of normal biochemical processes in the body. Although the incidence of IEM is rare, together their incidence is more than 1:1000.1 IEM
Kushal Mandal +3 more
doaj +1 more source
New Developments in Screening for Inborn Errors of Metabolism [PDF]
, 1971 I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core +1 more source
Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II +25 more
wiley +1 more source
JIMD ReportsBackground Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism.
Ahmed Sarar Mohamed +5 more
doaj +1 more source