Molecular diagnostics 101: how to use genetic tests in classical hematology. [PDF]
Caballero-Oteyza A, Di Biase M, Peng XP.
europepmc +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Sepsis Diagnosis in the Intensive Care Unit: A Comparative Study of Rapid Molecular Diagnostics and Conventional Blood Cultures. [PDF]
Unic-Stojanovic D +6 more
europepmc +1 more source
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
Portable Molecular Diagnostics for Cetacean Morbillivirus: Development of a Reverse Transcription Insulated Isothermal PCR (RT-iiPCR) for Global Surveillance. [PDF]
Lattao C +8 more
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Point-of-care molecular diagnostics and drug-resistance mechanisms in neglected infectious diseases: current advances and future therapeutic opportunities. [PDF]
Zhang Q, Zhang X, Yang J, Li H.
europepmc +1 more source
Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang +4 more
wiley +1 more source
Tuberculosis Today: Microbial Insights, Epidemiological Trends, and the Role of Molecular Diagnostics. [PDF]
Maciejak-Jastrzębska A +4 more
europepmc +1 more source

