Results 121 to 130 of about 305,884 (298)

PB1969: FUNCTIONAL CHARACTERIZATION OF SUSCEPTIBILITY LOCI TO MULTIPLE MYELOMA

open access: yesHemaSphere, 2022
M. Shokouhi, A. Macauda, F. Canzian
doaj   +1 more source

DNase1 RS1053874 Polymorphism is Associated with Early Neurological Recovery through NET Modulation and with Long‐Term Survival in Ischemic Stroke: A Prospective Cohort Study

open access: yesAnnals of Neurology, EarlyView.
Objective Immunothrombosis contributes to ischemic stroke pathophysiology through neutrophil extracellular trap (NET) formation, which promotes thrombus stabilization and microvascular dysfunction. DNase1 is the principal endonuclease responsible for NET degradation.
B. Díaz‐Benito   +10 more
wiley   +1 more source

Real-time genomic epidemiologic investigation of a multispecies plasmid-associated hospital outbreak of NDM-5-producing Enterobacterales infections

open access: yesInternational Journal of Infectious Diseases
: Objectives: New Delhi metallo-β-lactamase (NDM) is an emergent mechanism of carbapenem resistance associated with high mortality and limited treatment options.
Nathan J. Raabe   +13 more
doaj   +1 more source

Understanding Neurodegenerative Diseases From the −Omics Perspective: Lessons Learnt

open access: yesAnnals of Neurology, EarlyView.
As the population ages, certain neurodegenerative diseases (NDs) are becoming a major health issue. For this reason, this review will focus on the most common ND with onset after 65 years old; Alzheimer's disease, Parkinson's disease, Lewy body dementia, and frontotemporal dementia.
Laura Ibanez   +5 more
wiley   +1 more source

Author Correction: Genomic analysis of sewage from 101 countries reveals global landscape of antimicrobial resistance

open access: yesNature Communications, 2023
Patrick Munk   +14 more
doaj   +1 more source

Building genomic epidemiology capacity for mpox virus and other viral pathogenic detection for public health preparedness and response

open access: yesInternational Journal of Infectious Diseases
Objective: The 2022 mpox outbreak highlighted the threat of emerging infectious diseases and the value of genomic epidemiology, emphasizing the need to strengthen laboratory and data-sharing capacities.
Kitpong Sunchatawirul   +8 more
doaj   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

open access: yesAnnals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano   +20 more
wiley   +1 more source

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]

open access: yes, 2019
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M   +99 more
core  

Plasma Proteomics Identifies TAOK3 as a Potential Biomarker of Rheumatoid Arthritis Activity and a Novel Therapeutic Target

open access: yesArthritis &Rheumatology, Accepted Article.
Objective Bone destruction associated with active rheumatoid arthritis (RA) remains a major therapeutic challenge, with a lack of reliable molecular markers reflecting bone injury. This study aims to identify novel biomarkers linked to bone destruction in active RA through proteomic analysis, providing new strategies for precise monitoring and targeted
Pengfei Xin   +15 more
wiley   +1 more source

HSP90 Family Members, Their Regulators and Ischemic Stroke Risk: A Comprehensive Molecular-Genetics and Bioinformatics Analysis

open access: yesFrontiers in Bioscience-Scholar
Background: Disruptions in proteostasis are recognized as key drivers in cerebro- and cardiovascular disease progression. Heat shock proteins (HSPs), essential for maintaining protein stability and cellular homeostasis, are pivotal in ...
Ksenia Kobzeva   +3 more
doaj   +1 more source

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