Results 171 to 180 of about 16,254,290 (323)

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

open access: yesAdvanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou   +18 more
wiley   +1 more source

High-Throughput Phenotyping of Clinical Text Using Large Language Models [PDF]

open access: yes
High-throughput phenotyping automates the mapping of patient signs to standardized ontology concepts and is essential for precision medicine. This study evaluates the automation of phenotyping of clinical summaries from the Online Mendelian Inheritance ...
Stahlfeld, Anne   +4 more
core  

SemanticST: A Scalable Multi‐Contextual Graph Learning Framework for Uncovering Spatial Niches and Robust Multi‐Sample Integration in Spatial Transcriptomics

open access: yesAdvanced Science, EarlyView.
Technical limitations often let dominant signals overshadow rare cell types and fine‐grained heterogeneity in spatial transcriptomics. SemanticST, a graph neural network using multi‐semantic graph fusion and a novel min‐cut loss, recovers these subtle patterns.
Roxana Zahedi   +7 more
wiley   +1 more source

High Throughput Phenotyping of Physician Notes with Large Language and Hybrid NLP Models [PDF]

open access: yes
Deep phenotyping is the detailed description of patient signs and symptoms using concepts from an ontology. The deep phenotyping of the numerous physician notes in electronic health records requires high throughput methods.
Munzir, Syed I.   +2 more
core  

m6A‐Driven Pexophagy Triggers Placental Ferroptosis to Impair Fetal Growth Upon Environmental Stress

open access: yesAdvanced Science, EarlyView.
Prenatal environmental stress exposure promotes m6A modification to drive PEX2‐dependent pexophagy, thereby causing placental ferroptosis and FGR. ABSTRACT The role and underlying mechanisms of placental ferroptosis in fetal growth restriction (FGR) induced by environmental stress remain poorly understood.
Xin‐Xin Zhang   +18 more
wiley   +1 more source

High-throughput genomic phenotyping

open access: yes, 2004
In the wake of the development of technology to sequence the complete genome of an organism, it has become expedient to generate methodologies to elucidate and characterize the function of all genes constituting the complete genetic makeup of an organism, whereby the knowledge of the genetic code may be for scientific and intellectual profit. This work
openaire   +1 more source

Machine Learning‐Driven Design of Multicomponent Bone Inorganic Matrix Mimicking Scaffolds for Osteogenesis Enhanced by Neurogenesis

open access: yesAdvanced Science, EarlyView.
Schematic illustration of development of experimental datasets and algorithm models, screening and preparation of the scaffolds and their applications in vivo. ABSTRACT Bone defects require materials with osteogenic, neurogenic, and angiogenic activity, yet designing such materials within high‐dimensional compositional spaces remains challenging. Here,
Kunlu Lin   +9 more
wiley   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

open access: yesAdvanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song   +9 more
wiley   +1 more source

Programmable Paracrine‐Mimetic Microneedle System for Temporal Regulation of Cardiac Repair

open access: yesAdvanced Science, EarlyView.
Temporal signaling is encoded into a programmable paracrine‐mimetic microneedle patch via tris(2,2'‐bipyridyl)dichlororuthenium(II) hexahydrate/sodium persulfate‐tuned hydrogel microparticles that deliver TGF‐β, IGF‐1, and VEGF over phase‐matched 7‐, 14‐, and 28‐day windows.
Yichen Dai   +18 more
wiley   +1 more source

Single‐Cell Profiling Reveals a Protective WNT5A‐ATF3‐FOSB Signaling Axis in Hair Follicle Stem Cells During Androgenetic Alopecia

open access: yesAdvanced Science, EarlyView.
Androgenetic alopecia (AGA) is a common form of hair loss with limited treatment options. Silencing of WNT5A signaling, which is widely known as the trigger of the ncWNT signaling pathway, happens in hair follicle stem cells from balding areas. It leads to downregulation of ATF3 and its target FOSB.
Ruiyu Luo   +10 more
wiley   +1 more source

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