Results 181 to 190 of about 114,050,656 (255)
Automating AI Discovery for Biomedicine Through Knowledge Graphs and Large Language Models Agents
Advanced Intelligent Discovery, EarlyView.This work proposes a novel framework that automates biomedical discovery by integrating knowledge graphs with multiagent large language models. A biologically aligned graph exploration strategy identifies hidden pathways between biomedical entities, and specialized agents use this pathway to iteratively design AI predictors and wet‐lab validation ...
Naafey Aamer +3 more
wiley +1 more source
ViTAMIn‐O: Democratizing Computer Vision‐Based Machine Learning for Stem Cell Research
Advanced Intelligent Systems, EarlyView.This study introduces a fully open generalist computer vision model for predicting the differentiation outcomes of stem cell‐based model systems, together with its code‐free deployment platform, ColabViTAMIn‐O. It is benchmarked against various architectures, datasets, and training protocols.
Ferhat Hamurcu +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Cysteine Thioaldehydes: Photolytic Generation, Reactivity, and Biological Implications
Angewandte Chemie, EarlyView.Photolysis of cysteine phenacylsulfides bearing non‐conjugating electron‐withdrawing substituents leads to high conversions into cysteine thioaldehydes through a Norrish type‐II pathway. This methodology enabled the study of the aqueous reactivity of these important biosynthetic intermediates, which, depending on peptide sequence, pH and buffer ...
Ardra Karthika +9 more
wiley +2 more sources
Animal Models and Experimental Medicine, EarlyView.D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala +6 more
wiley +1 more source