Publications by authors named "L Vaccaro"

Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat syndrome. Exome and whole transcriptome sequencing revealed the ERF de novo in-frame indel c.

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Article Synopsis
  • CDKL5 deficiency disorder (CDD) is a rare condition caused by genetic variants in the CDKL5 gene that lead to issues with neuronal development and function, particularly impacting epilepsy.
  • Research using patient-derived induced pluripotent stem cells aimed to understand how these variants affect neurons, showing that while some aspects like neurite length appeared similar to controls, organoid-derived neurons exhibited increased network activity and excitability.
  • The findings suggest that differences in neuronal behavior and gene expression are specific to excitatory cortical neurons, highlighting the potential for developing targeted therapies for CDD by exploring the molecular mechanisms behind early neuronal hyperexcitability.
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An efficient Ni-based heterogeneous catalyst from pine needles urban waste valorization was designed and developed with a resource recycling strategy. The Ni/PiNe catalyst was fully characterized and tested in the Suzuki-Miyaura coupling under microwave irradiation. Although Ni is a promising candidate for replacing Pd-based catalytic systems, it generally requires a high catalyst amount and the exploitation of ligands and additives to enhance the reaction rate.

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Somatotropic gene expression has been altered by genetic selection, and developmental changes in insulin-like growth factor (IGF) and IGF binding protein (IGFBP) expression may contribute to rapid growth and muscle accretion in commercial broilers. The objective of this study was to evaluate changes in somatotropic axis activity between embryonic day (e) 12 and post-hatch day (d) 21. Liver and breast muscle (pectoralis major) were collected to measure gene expression, and blood was collected post-hatch to measure circulating IGFs.

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Article Synopsis
  • Hydrothermal carbonization (HTC) is an eco-friendly process that converts pine needle waste into nitrogen-doped hydrochars, aimed at improving environmental reactions.
  • These hydrochars were meticulously characterized and tested as catalytic electrodes for important reactions like oxygen reduction and carbon dioxide reduction, using advanced analytical techniques.
  • The study demonstrated that hydrochars synthesized at specific conditions showed exceptional electrocatalytic performance, achieving a high onset potential in the oxygen reduction reaction and producing valuable carbon products in the carbon dioxide reduction reaction.
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