RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Hfq-dependent artificial regulatory small RNAs for targeted gene expression control in the nitrogen-fixing <i>Pseudomonas stutzeri</i> A1501. [PDF]
Han Y +7 more
europepmc +1 more source
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
LICHEN enables light-chain immunoglobulin sequence generation conditioned on the heavy chain and experimental needs. [PDF]
Capel HL +11 more
europepmc +1 more source
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi +9 more
wiley +1 more source
NUPACK: Computational Nucleic Acid Analysis and Design. [PDF]
Fornace ME +6 more
europepmc +1 more source
The functional organization of chromosome territories in single nuclei during zygotic genome activation. [PDF]
Shankar Ganesh A +8 more
europepmc +1 more source
Effect of TAR hairpin stabilization on HIV-1 reverse transcription. [PDF]
Da Silva Amaral S +7 more
europepmc +1 more source
Using wheat-rye 1BL.1RS translocations to disclose the effects of subtelomeric tandem repeats on meiotic behavior of homologues. [PDF]
Zou Y +6 more
europepmc +1 more source
Possible liquid-nitrogen-temperature superconductivity driven by perpendicular electric field in the single-bilayer film of La3Ni2O7 at ambient pressure. [PDF]
Shao ZY, Ji JH, Wu C, Yao DX, Yang F.
europepmc +1 more source

