Roberta Benfante

Milan, Italy

Last Updated: 09/26/2026

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Found 30 publications

CRISPR/Cas9-mediated PHOX2B functional knock-out in IMR32 neuroblastoma cells impairs neuronal excitability through dysregulation of ion channels genes.

CRISPR/Cas9-mediated PHOX2B functional knock-out in IMR32 neuroblastoma cells impairs neuronal excitability through dysregulation of ion channels genes.

Journal: Frontiers in physiology

Published: March 31, 2026

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 gene.

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 gene.

Journal: Stem cell research

Published: October 24, 2025

Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.

Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.

Journal: The FEBS journal

Published: May 28, 2025

Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS.

Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS.

Journal: Chemical science

Published: November 30, 2023

Unanswered questions in the regulation and function of the duplicated α7 nicotinic receptor gene CHRFAM7A.

Unanswered questions in the regulation and function of the duplicated α7 nicotinic receptor gene CHRFAM7A.

Journal: Pharmacological research

Published: March 17, 2023

Special Issue: Cholinergic Control of Inflammation.

Special Issue: Cholinergic Control of Inflammation.

Journal: International journal of molecular sciences

Published: July 10, 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 gene.

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 gene.

Journal: Stem cell research

Published: March 19, 2022

Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.

Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.

Journal: International journal of molecular sciences

Published: March 11, 2022

The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders.

The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders.

Journal: International journal of molecular sciences

Published: January 24, 2022

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 cells.

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 cells.

Journal: Pharmacological research

Published: August 05, 2021

Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS).

Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS).

Journal: Frontiers in neuroscience

Published: October 09, 2020

Choline and nicotine increase glioblastoma cell proliferation by binding and activating α7- and α9- containing nicotinic receptors.

Choline and nicotine increase glioblastoma cell proliferation by binding and activating α7- and α9- containing nicotinic receptors.

Journal: Pharmacological research

Published: September 26, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026