Publications by authors named "J C Botello"

Biomolecular condensates are key features of intracellular compartmentalization. As the most prominent nuclear condensate in eukaryotes, the nucleolus is a layered multiphase liquid-like structure and the site of ribosome biogenesis. In the nucleolus, ribosomal RNAs (rRNAs) are transcribed and processed, undergoing multiple maturation steps that ultimately result in formation of the ribosomal small subunit (SSU) and large subunit (LSU).

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We explored the first evidence of a single-session neuromuscular biofeedback effect on motor unit properties, neuromuscular activation, and the Achilles tendon (AT) length 12 days after undergoing AT surgical repair. We hypothesized that immediate neuromuscular biofeedback enhances motor unit properties and activation without causing AT lengthening. After 12 days AT surgical repair, Medial Gastrocnemius (MG) motor unit decomposition was performed on a 58-year-old male before and after a neuromuscular biofeedback intervention (surface electromyography (sEMG) and ultrasonography), involving unressited plantar flexion.

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Microwave irradiation of -phenyloximes triggers N-O homolysis and 1,5-hydrogen atom transfer (HAT), resulting in formal γ-C-H functionalization of ketones after trapping of the radical intermediate and imine hydrolysis. The Lewis acid InCl·HO facilitated HAT, enabling functionalization of benzylic and nonbenzylic secondary carbon atoms. Functionalization of primary carbons was feasible but afforded low yields, requiring ClCHCOH instead of InCl·HO as an additive.

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Background: Diagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an actionable result. Long-read sequencing platforms offer the opportunity to make definitive molecular diagnoses using a single assay capable of detecting variants, characterizing methylation patterns, resolving complex rearrangements, and assigning findings to long-range haplotypes. Here, we demonstrate the clinical utility of Nanopore long-read sequencing by validating a confirmatory test for copy number variants (CNVs) in neurodevelopmental disorders and illustrate the broader applications of this platform to assess genomic features with significant clinical implications.

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LKB1 loss of function is one key oncogenic event in lung cancer. Clinical data suggest that LKB1 loss of function is associated with patients' smoking status. The responsible ingredients and molecular mechanisms in tobacco for LKB1 loss of function, however, are not defined.

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