3 Works

Data from: Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection

Nasser M. Al-Daghri, Chiara Pontremoli, Rachele Cagliani, Diego Forni, Majed S. Alokail, Omar S. Al-Attas, Shaun Sabico, Stefania Riva, Mario Clerici & Manuela Sironi
Background: The endoplasmic reticulum enzyme glucose-6-phosphatase catalyzes the common terminal reaction in the gluconeogenic/glycogenolytic pathways and plays a central role in glucose homeostasis. In most mammals, different G6PC subunits are encoded by three paralogous genes (G6PC, G6PC2, and G6PC3). Mutations in G6PC and G6PC3 are responsible for human mendelian diseases, whereas variants in G6PC2 are associated with fasting glucose (FG) levels. Results: We analyzed the evolutionary history of G6Pase genes. Results indicated that the three...

Data from: Age and sex prevalence estimate of Joubert Syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente & Nicola Vanacore
Objective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology, and to provide a molecular characterization of the described patients cohort. Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS and resident in Italy in 2018, and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis, and performed Next-Generation Sequencing (NGS) analysis on...

Data from: Positive selection underlies the species-specific binding of P. falciparum RH5 to human basigin

Diego Forni, Chiara Pontremoli, Rachele Cagliani, Uberto Pozzoli, Mario Clerici & Manuela Sironi
Plasmodium falciparum, the causative agent of the deadliest form of malaria, is a member of the Laverania subgenus, which includes ape-infecting parasites. P. falciparum is thought to have originated in gorillas, although infection is now restricted to humans. Laverania parasites display remarkable host-specificity, which is partially mediated by the interaction between parasite ligands and host receptors. We analyse the evolution of BSG (basigin) and GYPA (glycophorin A) in primates/hominins, as well as of their Plasmodium-encoded...

Registration Year

  • 2019
  • 2017
  • 2015

Resource Types

  • Dataset


  • Eugenio Medea
  • University of Milan
  • University of Pavia
  • University of Salerno
  • King Saud University
  • Istituto Superiore di Sanità
  • Bambino Gesù Children's Hospital
  • University of Pisa