Results 41 to 50 of about 131,595 (265)

Genomic sequencing surveillance of patients colonized with vancomycin-resistant enterococci improves detection of healthcare-associated transmission

open access: yesBMC Global and Public Health
Background Vancomycin-resistant enterococcal (VRE) infections pose significant challenges in healthcare. Transmission dynamics of VRE are complex, often involving patient colonization and subsequent transmission through various healthcare-associated ...
Alexander J. Sundermann   +10 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

Stopping outbreaks with real-time genomic epidemiology [PDF]

open access: yesGenome Medicine, 2014
AbstractOne of the most successful public health applications of next-generation sequencing is whole-genome sequencing of pathogens to not only detect and characterize outbreaks, but also to inform outbreak management. Using genomics, infection control teams can now track, with extraordinarily high resolution, the transmission events within outbreaks ...
Tang, Patrick, Gardy, Jennifer L
openaire   +2 more sources

Chronic Hypoxia Disrupts Spermatogenesis Through ASXL2–EZH2–Mediated Microtubule Destabilization

open access: yesAdvanced Science, EarlyView.
This study reveals the mechanism by which chronic hypoxia impairs spermatogenesis via the ASXL2–EZH2 axis, hindering the transition of spermatids from round to elongated forms. Key findings reveal that under hypoxic conditions, downregulated ASXL2 expression reduces EZH2 binding to the CEP162 promoter, leading to decreased H3K27me3 modification and ...
Jun Yin   +11 more
wiley   +1 more source

DRD2 Deficiency Underlies Pituitary Adenoma Dependent on Escherichia coli Translocation from the Gut

open access: yesAdvanced Science, EarlyView.
Dopamine receptor D2 (DRD2) deficiency disrupts epithelial barrier integrity in both the gut and pituitary gland, facilitating translocation of gut‐derived Escherichia coli into pituitary tissue. Intratumoral E. coli are phagocytosed by microglia, triggering GSDMD‐dependent pyroptosis and HMGB1 release, which subsequently activates MAPK signaling to ...
Xian‐jun Su   +16 more
wiley   +1 more source

Pathways of Hypoxia-Inducible Factor (HIF) in the Orchestration of Uterine Fibroids Development

open access: yesLife, 2023
Uterine fibroids (UF) are common benign tumors in women. The course of UF is associated with troubling symptoms and the development of infertility and pregnancy pathology.
Maria Fedotova   +2 more
doaj   +1 more source

Highly Resolved Community Sewage Metagenomics Unveiling Landscape and Transmission Patterns of Antibiotic Resistome in Hong Kong Populations

open access: yesAdvanced Science, EarlyView.
A large‐scale, high‐resolution antimicrobial resistance (AMR) surveillance in Hong Kong community sewage combining short‐ and long‐read sequencing. The resistome profile is comprehensively characterized, and this upstream sampling strategy demonstrated superiority in reflecting the human gut resistome.
Jiahui Ding   +11 more
wiley   +1 more source

Bacterial genomes in epidemiology—present and future [PDF]

open access: yesPhilosophical Transactions of the Royal Society B: Biological Sciences, 2013
Sequence data are well established in the reconstruction of the phylogenetic and demographic scenarios that have given rise to outbreaks of viral pathogens. The application of similar methods to bacteria has been hindered in the main by the lack of high-resolution nucleotide sequence data from quality samples.
Nicholas J, Croucher   +3 more
openaire   +2 more sources

Programmable Klebsiella pneumoniae Phage Tropism Enabled by Scalable Receptor‐Binding Protein Mining and Modular Assembly

open access: yesAdvanced Science, EarlyView.
This work introduces a scalable, data‐driven strategy that turns the vast sequence diversity of phage receptor‐binding proteins into modular tools for engineering customizable phages. By clustering and experimentally validating diverse RBPs, the authors build an accurate map linking sequence to host specificity and create plug‐and‐play modules that ...
Shisong Jing   +10 more
wiley   +1 more source

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