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Frontiers in Physiology|July 9, 2026
CRISPR/Cas9-mediated PHOX2B functional knock-out in IMR32 neuroblastoma cells impairs neuronal excitability through dysregulation of ion channels genesSilvia Cardani, Martina Bertocchi, Erika Donà, et al.Pharmacological Research|November 10, 2021
Evidence of a dual mechanism of action underlying the anti-proliferative and cytotoxic effects of ammonium-alkyloxy-stilbene-based α7- and α9-nicotinic ligands on glioblastoma cellsSusanna Pucci, Cristiano Bolchi, Francesco Bavo, et al.Chemical Science|June 14, 2024
Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHSDonatella Diana, Luciano Pirone, Luigi Russo, et al.Stem Cell Research|December 20, 2025
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B geneAna Lucia Cuadros Gamboa, Filippo Chiesa, Paride Pelucchi, et al.Stem Cell Research|April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B geneAna Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.Cerebral Cortex (New York, N.Y. : 1991)|March 24, 2016
eEF2K/eEF2 Pathway Controls the Excitation/Inhibition Balance and Susceptibility to Epileptic SeizuresChristopher Heise, Elham Taha, Luca Murru, et al.Hypertension (Dallas, Tex. : 1979)|September 11, 2013
Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility geneErika Salvi, Tatiana Kuznetsova, Lutgarde Thijs, et al.Pageof 4