Profile of mutations and genetic polymorphisms in SLC3A1, SLC7A9 and PBX1 genes in families of patients with cystinuria

• Grant number: 17/12742-2
• Support Opportunities: Regular Research Grants
• Start date: November 01, 2017
• End date: October 31, 2019
• Field of knowledge: Health Sciences - Medicine - Surgery
• Principal Investigator: Eduardo Mazzucchi
• Grantee: Eduardo Mazzucchi
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Giovanni Scala Marchini ; Kátia Ramos Moreira Leite ; Miguel Srougi ; Nayara Izabel Viana ; Ruan César Aparecido Pimenta ; Sabrina Thalita dos Reis Faria

Abstract

The objective of this study is to map genetic mutations of Brazilian families that have individuals with and without a diagnosis of cystinuria in order to internally validate mutations already described in the SLC73A1 and SLC7A9 genes and to look for new alterations in the same genes that may be associated to the development Cystinuria in our population. In addition, we will also sequence the PBX1 gene region to validate our previous findings and eventually describe new genetic changes that may be associated with cystinuria. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

REIS, SABRINA; PIMENTA, RUAN; MARCHINI, GIOVANNI; LEITE, KATIA; VIANA, NAYARA; SIMOES, WILLIAM; TORRICELLI, FABIO; VICENTINI, FABIO; DANILOVIC, ALEXANDRE; NAHAS, WILLIAM; et al. SEVERE AND EARLY BEGINNING OF UROLITHIASIS RELATED TO THE INHERITANCE OF SLC7A9 MUTATIONS. JOURNAL OF UROLOGY, v. 201, n. 4, p. 2-pg., 2019-04-01. (17/12742-2)