Results 221 to 230 of about 1,118,249 (314)
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Genome sequencing and assembly of Neolissochilus pnar, the largest cavefish species of Mahseer. [PDF]
Mohindra V +6 more
europepmc +1 more source
Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier +3 more
wiley +1 more source
Oncogenic HPV types identified in Paleolithic and Chalcolithic human genome sequencing data from Ust'-Ishim and Ötzi. [PDF]
Yazigi JB +6 more
europepmc +1 more source
Objective Despite well‐described biologic causes, the public views unhealthy lifestyle choices as the primary cause of gout. This study investigated how causal beliefs about gout influence the public's views about its management. Methods In a randomized study, 201 members of the public viewed one of two 2‐minute videos about gout.
Rachel Murdoch +6 more
wiley +1 more source
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Correction: Integrating artificial intelligence with genome sequencing against antimicrobial resistance: a narrative review. [PDF]
Scaglione G +10 more
europepmc +1 more source
What Do Large Language Models Know About Materials?
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer +2 more
wiley +1 more source
Leveraging whole-genome sequencing for microbial contamination tracking and risk assessment in pharmaceutical manufacturing. [PDF]
Li Q +6 more
europepmc +1 more source
We have developed DEX/GM, an all‐natural, personalizable hybrid vaccine designed by coating dendritic cell‐derived exosomes (DEX) onto tumor cell membranes (GM) for sustained prophylaxis against glioblastoma (GBM). ABSTRACT Glioblastoma (GBM), one of the most aggressive and lethal brain tumors, remains incurable with a poor clinical prognosis.
Shanshan Li +6 more
wiley +1 more source

