Genome-Wide Association Study of Psoriasis, Psoriatic Arthritis, Anti-TNF-α Response, and Polygenic Risk Score in a Russian Cohort. [PDF]
Karamova AE +3 more
europepmc +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Multi-ancestry genome-wide association study and meta-analysis of lung function decline. [PDF]
Patchen BK +36 more
europepmc +1 more source
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau +11 more
wiley +1 more source
Genome-Wide Association Study Identifies Candidate Genes for Salt Tolerance in Traditional Rice Landraces. [PDF]
Liang H +7 more
europepmc +1 more source
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian +6 more
wiley +1 more source
Intracerebral Hemorrhage Induces Monocyte TNF Signaling in Patients That Is Suppressed by BAF312
ABSTRACT Objective Intracerebral hemorrhage (ICH) causes high morbidity and mortality, with neurotoxic inflammation driven by infiltrating monocytes. This study is an in‐depth longitudinal examination of the immune response during the first week of ICH in the presence and absence of the immunomodulatory drug BAF312 (Siponimod).
Jonathan Howard DeLong +10 more
wiley +1 more source
Genome-Wide Association Study (GWAS) for Freezing and De-Acclimation Tolerance in Polish Winter Barley. [PDF]
Bani I, Hadagali S, Wójcik-Jagła M.
europepmc +1 more source
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Genome-wide association study and polygenic risk scores of eosinophilia in Taiwan. [PDF]
Lu HF +5 more
europepmc +1 more source

