Results 241 to 250 of about 1,296,799 (301)
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
<sup>17</sup>O Quadrupole Coupling Constants in Water. [PDF]
Haque N, de Dios AG, de Dios AC.
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
PCLIPtools: a robust framework for identifying RNA-protein interaction sites from PAR-CLIP experiments. [PDF]
Polash AH, Hafner M.
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
Integrative Molecular, Cytological, and Anatomical Analyses Reveal Two Distinct Clusters in <i>Fittonia</i> Cultivars. [PDF]
Deng M, Li Q, Chen J.
europepmc +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Project-level causal inference of a minimum viable scale threshold and adoption band in CCUS-enabled hydrogen. [PDF]
Nkou Nkou JJ +5 more
europepmc +1 more source
Perifollicular stromal cells sustain folliculogenesis via MDK-NCL signaling in mice and humans. [PDF]
Zhang Z +17 more
europepmc +1 more source

