Results 101 to 110 of about 202,258 (245)

Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patient-reported data

Heliyon
Background: The ataxias are rare complex neurological disorders challenging to diagnose and manage. We explored the patient pathways, health care use and costs of individuals attending a specialist ataxia centre (SAC) compared with non–specialist ...
Julie Vallortigara, Julie Greenfield, Barry Hunt, Holm Graessner, Carola Reinhard, Andreas Nadke, Bart-Jan Schuman, Deborah Hoffman, Steve Morris, Paola Giunti   +9 more
doaj   +1 more source

Toward Material‐Specific Peptides From in Silico Guided Peptide Engineering to Target PET in the Presence of PS

Advanced Science, EarlyView.
This work presents a computational–experimental strategy to engineer material‐binding peptides toward polymer specificity. Molecular dynamics simulations identified residues driving polystyrene binding, enabling targeted substitutions that greatly reduced polystyrene affinity while preserving PET binding.
Julian Luka, Marian Bienstein, Jonas Berger, Ulrich Schwaneberg   +3 more
wiley   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

Decoding Biomolecular Phase Separation: From Physiological Roles to Pathological Mechanisms and Therapeutic Biomaterials Design

Advanced Science, EarlyView.
This review systematically elaborates on the mechanisms underlying physiological regulation and pathological dysregulation of biomolecular phase separation. It also summarizes advances in phase‑separation‑targeted therapeutic strategies and the design of functional biomaterials inspired by this process.
Jiawei Zhu, Jingbo Dong, Qiufang Gong, Xuejiao Song, Zhifa Shen, Chao Liang   +5 more
wiley   +1 more source

Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links

Advanced Science, EarlyView.
Based on a multi‐omics cohort of 2002 individuals comprising high‐depth whole‐genome and metagenomic sequencing data, blood metabolites, and detailed questionnaires, we identified 138 859 high‐confidence SVs, uncovering 36 significant SV–microbiome associations and 48 SV–blood metabolite associations.
Qun Zhou, Keqing Wang, Junhong Chen, Haoyu Wang, Xinjiang Tan, Xuanlin Huang, Zhiyin Lin, Xun Xu, Xin Jin, Shaoqiao Zhang, Liang Xiao, Yuanqiang Zou, Tao Zhang, Xiaomin Liu   +13 more
wiley   +1 more source

A Chiral Virus‐Like Nanoplatform That Broadly Mediates Antibiotic Delivery to the Brain for Bacterial Meningitis Therapy

Advanced Science, EarlyView.
Chiral virus‐mimicking mesoporous silica nanostructures (CVSNs) efficiently transport diverse antibiotics across the blood–brain barrier (BBB) into brain parenchyma and cerebrospinal fluid. By enhancing delivery to microglia and astrocytes, CVSNs improve antibiotic bioavailability and therapeutic efficacy against both Gram‐negative and Gram‐positive ...
Qianqian Xu, Xuting Zheng, Huinan Tong, Ying Liu, Xiaoxi Fan, Miao Xu, Ziyan Zhang, Li Zhang, Mingyan Liu, Ting Du, Heran Li, Guojun Liu   +11 more
wiley   +1 more source

Accelerating Biosensor Discovery: A Computationally‐Driven Pipeline for Microplastics Monitoring

Advanced Intelligent Discovery, EarlyView.
A computationally guided pipeline unites molecular simulation, synthetic biology, electrochemical engineering, and machine learning to accelerate biosensor discovery. A Bacillus anthracis carbohydrate‐binding module is used to develop a high‐performance micro‐ and nanoplastics sensor with greatly reduced error and variability.
Gabriel X. Pereira, Marcos de C. Leite, Pedro H. M. Zanineli, Juliana N. Y. Costa, Débora M. Cunha, Sophia P. Serra, Pedro H. Sophia, Flávio M. Shimizu, Yasmin W. Moura, Célio C. Oliveira, Gabriel R. Schleder, Gabriela F. Persinoti, Leandro Merces, Renato S. Lima   +13 more
wiley   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Age-related patterns in the creation of social prediction models: a study using immersive virtual reality

Scientific Reports
Exposure to environmental regularities allows individuals to build internal models, supporting the integration of prior expectations with sensory input in social contexts.
Libera Siciliano, Maria Pyasik, Gaetano Tieri, Valentina Ciot, Claudia Salera, Nicole Urbini, Viola Oldrati, Andrea Ciricugno, Giusy Olivito, Renato Borgatti, Marco Iosa, Zaira Cattaneo, Cosimo Urgesi, Maria Leggio   +13 more
doaj   +1 more source