Giuseppe Santamaria

Genoa, 16147, Italy

Last Updated: 09/26/2026

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Found 12 publications

PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.

PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.

Journal: Molecular medicine (Cambridge, Mass.)
Published: March 01, 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

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

Journal: Frontiers in physiology
Published: April 23, 2025

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

Journal: NPJ genomic medicine
Published: July 23, 2024

Patient's dermal fibroblasts as disease markers for visceral myopathy.

Patient's dermal fibroblasts as disease markers for visceral myopathy.

Journal: Biomaterials advances
Published: September 08, 2022

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Journal: Genes
Published: July 22, 2021

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Journal: Clinical immunology (Orlando, Fla.)
Published: June 04, 2021

The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

Journal: International journal of molecular sciences
Published: March 11, 2021

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.

Journal: Clinical genetics
Published: June 01, 2020

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Journal: Orphanet journal of rare diseases
Published: October 02, 2018

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Journal: The Journal of rheumatology
Published: June 30, 2017

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.

Journal: International journal of molecular sciences
Published: February 07, 2017
Showing 1-12 of 12

Last Updated: 09/26/2026