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Establishment of a center of genetic and molecular research for clinical challenges

Grant number: 14/27198-8
Support Opportunities:Research Projects - Thematic Grants
Duration: June 01, 2016 - February 28, 2021
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:João Bosco Pesquero
Grantee:João Bosco Pesquero
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Pesquisadores principais:
Dirceu Solé ; Maria Cristina de Oliveira Izar ; Paulo Cesar Koch Nogueira
Associated researchers:Ana Beatriz Alvarez Perez ; Beatriz Tavares Costa Carvalho ; Eli Mansur ; Francisco Antonio Helfenstein Fonseca ; Houtan Noushmehr ; Luis Felipe Chiaverini Ensina ; Maria Cristina de Oliveira Izar ; Maria Isabel de Moraes Pinto ; Roseli Oselka Saccardo Sarni ; Sonia Hix ; Vânia D'Almeida
Associated grant(s):19/06543-2 - Angioedema and bradykinin receptors in the endothelium, AP.R SPRINT
Associated scholarship(s):19/12261-0 - Functional characterization of new variants presents in the GLA gene of patients with suspicion of Fabry disease, BP.MS
19/13637-3 - Pharmacological analyzes in iPSC-derived cardiomyocytes of patients with Fabry Disease, BP.PD
17/24857-9 - APOB gene study in patients with Familial Hypercholesterolemia, BP.IC
+ associated scholarships 17/00719-6 - The study of genetic and molecular profile of kallikrein-kinin system in familial hypercholesterolemia patients, BP.MS
16/10319-2 - The study of genetic and molecular profile of renin-angiotensin-aldosterone in familial hypercholesterolemia patients, BP.PD
15/25494-1 - Development of a gene therapy model for hereditary angioedema based on SERPING1 gene edition by CRISPR-Cas9 system, BP.PD
14/20965-3 - In silico study of genetic mutations causing hereditary angioedema, BP.PD - associated scholarships

Abstract

New models of organization and health practices in Brazil are efforts to improve services and an approach based not only on the disease, but in the health-disease process aiming prevention and quality of life. The emphasis on healthy habits among the population is a milestone, increased motivation to adopt healthy habits, greater interest in having a healthy body, further knowledge on genetic determinants and the appreciation of the benefits of physical activity and exercise to the health and quality of life. The promotion of health has to find proposals to meet emerging issues in our society in a way that has an overview of "microdeterminants" and "macrodeterminants" of the health-disease process. To create new opportunities for health intervention is necessary in the ongoing effort to study the physiology of the human body along with the pursuit of thorough knowledge of the genotype and phenotype interaction. A major goal of human genetics is to understand how changes in the DNA of individuals provide the development of disease, and the biggest challenge is the search for correlations between genotype and phenotype. The approach for molecular genetic studies of complex phenotypes has evolved considerably during the past few years, the next-generation sequencing (NGS) has enabled great advances and contributed greatly to the evolution of medicine. The research in our group for several years has been concentrated on systems like kallikrein kinins and renin angiotensin, primarily using transgenic animals, enzyme kinetics and gene expression in general. All this history has brought us extensive experience in molecular biology. Along the years we have increased our knowledge on genetic diseases and also in the genotype phenotype correlation in physical activity and sports. The fundamental connection between all these projects is the need for deepening genetic studies to bring further progress in the area, since they are all "clinical challenges", due to their complexity or due to the mosaic of events that hinder the genotype and phenotype correlation. These studies are crucial to advances in screening and diagnosis, development of new therapeutic and preventive approaches, supporting quality of life, as well as in the quest for a healthy body. Thus we aimed to establish a center of genetic research, which will be a very important OMIC tool to assist in the conduct of "clinical challenges" as well as for physical and sport performance, representing a new benchmark for genetic and molecular studies in Brazil. (AU)

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Scientific publications (35)
(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)
RENNO SIERRA, ANA PAULA; OLIVEIRA, RODRIGO ASSUNCAO; SILVA, ELTON DIAS; OLIVEIRA LIMA, GISCARD HUMBERTO; BENETTIL, MARINO PEREIRA; PEDANTI KISS, MARIA AUGUSTA; SIERRA, CARLOS ANIBAL; GHORAYEB, NABIL; SETO, JANE T.; PESQUERO, JOAO BOSCO; et al. Association Between Hematological Parameters and Iron Metabolism Response After Marathon Race and ACTN3 Genotype. FRONTIERS IN PHYSIOLOGY, v. 10, . (14/27198-8, 14/21501-0)
GOMES, CAIO P.; FERNANDES, DANILO E.; CASIMIRO, FERNANDA; MATA, GUSTAVO F.; PASSOS, MICHELLE T.; VARELA, PATRICIA; MASTROIANNI-KIRSZTAJN, GIANNA; PESQUERO, JOAO BOSCO. Cathepsin L in COVID-19: From Pharmacological Evidences to Genetics. FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY, v. 10, . (14/27198-8, 19/05266-5)
CARNEIRO, ANDREIA; MACEDO-DA-SILVA, JANAINA; SANTIAGO, VERONICA FEIJOLI; DE OLIVEIRA, GILBERTO SANTOS; GUIMARAES, THIAGO; MENDONCA, CLARISSA FEROLLA; DE OLIVEIRA BRANQUINHO, JESSICA LAIS; LUCENA, CINTIA VERDAN; OSORIO, JULIANA; PERNAMBUCO, EDUARDO; et al. Urine proteomics as a non-invasive approach to monitor exertional rhabdomyolysis during military training. JOURNAL OF PROTEOMICS, v. 258, p. 17-pg., . (18/13283-4, 14/27198-8, 18/18257-1, 20/04923-0, 18/15549-1, 21/00140-3)
MARTIN, RENAN PAULO; VARELA, PATRICIA; GOMES, CAIO PERES; MARINS, MARYANA MARA; FILIPPELLI-SILVA, RAFAEL; YARAK, SAMIRA; SOARES, JULIANA L. M.; SANUDO, ADRIANA; IDKOWIAK-BALDYS, JOLANTA; CHEN, SIMING; et al. ranscriptomic and histological analysis of exposed facial skin areas wrinkled or not and unexposed ski. MOLECULAR BIOLOGY REPORTS, v. 49, n. 3, . (14/27198-8)
NEVES, RAQUEL LEAO; BRANQUINHO, JESSICA; ARATA, JULIA GALANAKIS; BITTENCOURT, CLARISSA AZEVEDO; GOMES, CAIO PEREZ; RIGUETTI, MICHELLE; DA MATA, GUSTAVO FERREIRA; FERNANDES, DANILO EUCLIDES; ICIMOTO, MARCELO YUDI; KIRSZTAJN, GIANNA MASTROIANNI; et al. ACE2, ACE, DPPIV, PREP and CAT L enzymatic activities in COVID-19: imbalance of ACE2/ACE ratio and potential RAAS dysregulation in severe cases. Inflammation Research, v. 72, n. 8, p. 13-pg., . (19/01487-7, 14/27198-8, 19/05266-5)
MARTINS, LEONARDO; BADER, MICHAEL; PESQUERO, JOAO BOSCO. Kinins: Locally formed peptides during inflammation with potential use in tissue regeneration. Inflammation Research, v. N/A, p. 7-pg., . (14/27198-8, 17/26427-1, 15/03541-8)
VARELA, PATRICIA; MASTROIANNI KIRSZTAJN, GIANNA; MOTTA, FABIANA L.; MARTIN, RENAN P.; TURACA, LAURO T.; FERRER, HENRIQUE L. F.; GOMES, CAIO P.; NICOLICHT, PRISCILA; MARA MARINS, MARYANA; PESSOA, JULIANA G.; et al. Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients. ORPHANET JOURNAL OF RARE DISEASES, v. 15, n. 1, . (18/23367-0, 14/27198-8)
CESPEDES, ISABEL CRISTINA; OTA, VANESSA KIYOMI; MAZZOTTI, DIEGO ROBLES; WSCIEKLICA, TATIANA; CONTE, RAFAEL; GALDUROZ, JOSE CARLOS FERNANDES; VARELA, PATRICIA; PESQUERO, JOAO BOSCO; SOUZA-FORMIGONI, MARIA LUCIA OLIVEIRA. Association between polymorphism in gene related to the dopamine circuit and motivations for drinking in patients with alcohol use disorder. PSYCHIATRY RESEARCH, v. 295, . (13/01158-7, 14/27198-8)
BOTTURA, RICARDO MULLER; OLIVEIRA LIMA, GISCARD HUMBERTO; HIPOLIDE, DEBORA CRISTINA; PESQUERO, JOAO BOSCO. Association between ACTN3 and acute mountain sickness. GENES AND ENVIRONMENT, v. 41, n. 1, . (14/27198-8)
VARELA, PATRICIA; CARVALHO, GERSON; MARTIN, RENAN PAULO; PESQUERO, JOAO BOSCO. Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations. METABOLIC BRAIN DISEASE, v. 36, n. 2, . (14/27198-8)
SALES, VICENCIA M.; GONCALVES-ZILLO, THAIS; CASTOLDI, ANGELA; BURGOS, MARINA; BRANQUINHO, JESSICA; BATISTA, CAROLINA; OLIVEIRA, VALERIA; SILVA, ELTON; CASTRO, CHARLLES H. M.; CAMARA, NIELS; et al. Kinin B-1 Receptor Acts in Adipose Tissue to Control Fat Distribution in a Cell-Nonautonomous Manner. Diabetes, v. 68, n. 8, p. 1614-1623, . (17/07975-8, 17/01184-9, 14/27198-8)
VARELA, PATRICIA; CALDAS, MYRTES MARTINS; PESQUERO, JOAO BOSCO. Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease. FRONTIERS IN GENETICS, v. 10, . (14/27198-8)
GUIMARAES, PAOLA BIANCHI; DA SILVA, RAFAEL FILIPPELLI; HOFF, CAROLINA CALDAS; FERNANDES, LILIAM; NAKAIE, CLOVIS RYUICHI; CHAGAS, JAIR RIBEIRO; CARMONA, ADRIANA KARAOGLANOVIC; BADER, MICHAEL; PESQUERO, JOAO BOSCO. Interactions between carboxypeptidase M and kinin B1 receptor in endothelial cells. Inflammation Research, v. 68, n. 10, p. 845-855, . (14/27198-8, 14/03790-5)
NICOLICHT, PRISCILA; FARIA, DOUGLAS O. S.; MARTINS-SILVA, LEONARDO; MAIA, LUANA S. M.; MORENO, ADRIANA S.; KARLA ARRUDA, L.; MOTTA, ANTONIO A.; GRUMACH, ANETE S.; PESQUERO, JOAO B.. Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families. Gene, v. 685, p. 179-185, . (14/27198-8)
WATANABE, ANDREIA; GUARAGNA, MARA SANCHES; SANTORO BELANGERO, VERA MARIA; SERAFIM CASIMIRO, FERNANDA MARIA; PESQUERO, JOAO BOSCO; FELTRAN, LUCIANA DE SANTIS; PEREIRA PALMA, LILIAN MONTEIRO; VARELA, PATRICIA; MIRANDA DE MENEZES NEVES, PRECIL DIEGO; LERARIO, ANTONIO MARCONDES; et al. APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. Pediatric Nephrology, v. 36, n. 8, SI, p. 2327-2336, . (13/02162-8, 14/27198-8, 15/20502-6)
GOMES, CAIO PEREZ; DA SILVA, ANDRE MACEDO SERAFIM; ZANOTELI, EDMAR; PESQUERO, JOAO BOSCO. A new mutation in PYGM causing McArdle disease in a Brazilian patient. ACTA NEUROLOGICA BELGICA, v. 120, n. 3, p. 705-707, . (14/27198-8)
RENNO SIERRA, ANA PAULA; MARTINEZ GALAN, BRYAN STEVE; ZOCOLER DE SOUSA, CESAR AUGUSTUS; DE MENEZES, DUANE CARDOSO; DE OLIVEIRA BRANQUINHO, JESSICA LAIS; NEVES, RAQUEL LEAO; ARATA, JULIA GALANAKIS; BITTENCOURT, CLARISSA AZEVEDO; BARBEIRO, HERMES VIEIRA; DE SOUZA, HERALDO POSSOLO; et al. Exercise Induced-Cytokines Response in Marathon Runners: Role of ACE I/D and BDKRB2+9/-9 Polymorphisms. FRONTIERS IN PHYSIOLOGY, v. 13, p. 13-pg., . (18/26269-0, 14/27198-8)
ENSINA, L. F.; MARTIN, R. P.; FILIPPELLI-SILVA, R.; VERONEZ, C. L.; SOLE, D.; PESQUERO, J. B.. Angioedema-Induced by Nonsteroidal Anti-inflammatory Drugs: A Genotype-Phenotype Correlation in A Brazilian Population. JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, v. 29, n. 4, p. 3-pg., . (14/27198-8)
IZAR, M. C.; FONZAR, W. T.; SILVA, T. P.; FRANCA, C. N.; FONSECA, H. A. R.; TEIXEIRA, D.; MAUGERI, I. M. L.; COSTE, M. E. R.; BIANCO, H. T.; PESQUERO, J. B.; et al. Role of the immune-inflammatory biomarkers and atherosclerosis development in subjects with familial hypercholesterolemia. EUROPEAN HEART JOURNAL, v. 39, p. 1-pg., . (14/27198-8)
VARELA, PATRICIA; GOMES, CAIO P.; MARINS, MARYANA; ASSIS, ERICA; D'ALMEIDA, VANIA; MARTINS, ANA MARIA; PESQUERO, JOAO BOSCO. Presence of the mutation c.1-769G > C in the promoter region of the GLA gene could be responsible for the alpha-galactosidase-A deficiency in Fabry patients. MOLECULAR GENETICS AND METABOLISM, v. 120, n. 1-2, p. 1-pg., . (14/27198-8)
VERONEZ, CAMILA LOPES; CAMPOS, REGIS ALBUQUERQUE; CONSTANTINO-SILVA, ROSEMEIRE NAVICKAS; NICOLICHT, PRISCILA; PESQUERO, JOAO BOSCO; GRUMACH, ANETE SEVCIOVIC. Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review. FRONTIERS IN MEDICINE, v. 6, . (15/25494-1, 13/02661-4, 14/27198-8)
VERONEZ, CAMILA LOPES; MENDES, AGATHA RIBEIRO; LEITE, CAROLINY SOUZA; GOMES, CAIO PEREZ; GRUMACH, ANETE SEVCIOVIC; PESQUERO, JOAO BOSCO; BRAZILI, HEREDITARY ANGIOEDEMA. The Panorama of Primary Angioedema in the Brazilian Population. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, v. 9, n. 6, p. 2293+, . (13/02661-4, 15/25494-1, 14/27198-8)
RIGUETTI, MICHELLE T. P.; VARELA, PATRICIA; FERNANDES, DANILO E.; POLITO, M. GORETTI; CASIMIRO, FERNANDA M.; PESQUERO, JOAO B.; MASTROIANNI-KIRSZTAJN, GIANNA. Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations. FRONTIERS IN GENETICS, v. 11, . (19/05266-5, 14/27198-8)
GOMES, CAIO PEREZ; MARINS, MARYANA MARA; MOTTA, FABIANA LOUISE; KYOSEN, SANDRA OBIKAWA; CURIATI, MARCO ANTONIO; D'ALMEIDA, VANIA; MARTINS, ANA MARIA; PESQUERO, JOAO BOSCO. A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report. FRONTIERS IN GENETICS, v. 10, . (14/27198-8)
VARELA, PATRICIA; MASTROIANNI KIRSZTAJN, GIANNA; FERRER, HENRIQUE; ARANDA, CAROLINA; WALLBACH, KRISSIA; FERREIRA DA MATA, GUSTAVO; MOURA, LUIZ A.; MOREIRA, SILVIA R.; MENDES, CARMEN; CURIATI, MARCO A.; et al. Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family. NEPHRON, v. 144, n. 3, p. 147-155, . (14/27198-8)
FELTRAN, LUCIANA S.; WATANABE, ANDREIA; GUARAGNA, MARA S.; MACHADO, IVAN C.; CASIMIRO, FERNANDA M. S.; NEVES, PRECIL D. M. M.; PALMA, LILIAN M.; VARELA, PATRICIA; VAISBICH, MARIA H.; MARIE, SUELY K. N.; et al. Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI). KIDNEY INTERNATIONAL REPORTS, v. 5, n. 3, p. 358-362, . (14/27198-8, 13/02162-8)
BATISTA, CAROLINA; SALES, VICENCIA M.; MERINO, VANESSA F.; BADER, MICHAEL; FERES, TERESA; PESQUERO, JOAO B.. Role of Endothelial Kinin B1 Receptor on the Membrane Potential of Transgenic Rat Aorta. Physiological Research, v. 71, n. 4, p. 11-pg., . (14/27198-8)
MARTINS, LEONARDO; AMORIM, WESLLEY WALLACE; GREGNANI, MARCOS FERNANDES; ARAUJO, RONALDO DE CARVALHO; QADRI, FATIMUNNISA; BADER, MICHAEL; PESQUERO, JOAO BOSCO. Kinin receptors regulate skeletal muscle regeneration: differential effects for B1 and B2 receptors. Inflammation Research, v. 72, n. 8, p. 19-pg., . (14/27198-8, 15/03541-8, 17/26427-1)
LIMA, GISCARD; ALMEIDA, SANDRO SOARES; SILVA, ELTON DIAS; PEREIRA ROSA, JOAO PAULO; DE SOUZA, ALTAY LINO; RENNO SIERRA, ANA PAULA; DORETTO, ADILSON ROBERTO; COSTA, CHIARETTO ALVES; CORREIA, PAULO ROBERTO; PESQUERO, JOAO BOSCO. Association between basketball playing position and ACTN3 R577X polymorphism in athletes of first division Brazilian Basketball League. Gene, v. 863, p. 8-pg., . (14/27198-8)
VARELA, PATRICIA; KIRSZTAJN, GIANNA; WALLBACH, KRISSIA; DA MATA, GUSTAVO; MOURA, LUIZ; MOREIRA, SILVIA; MENDES, CARMEN; CURIATI, MARCO; D'ALMEIDA, VANIA; MARTINS, ANA MARIA; et al. In silico and in vitro analysis of a novel GLA missense mutation in patients with severe renal involvement. MOLECULAR GENETICS AND METABOLISM, v. 123, n. 2, p. 1-pg., . (14/27198-8)
VERONEZ, CAMILA LOPES; MORENO, ADRIANA S.; CONSTANTINO-SILVA, ROSEMEIRE NAVICKAS; MAIA, LUANA S. M.; FERRIANI, MARIANA P. L.; CASTRO, FABIO F. M.; VALLE, SOLANGE RODRIGUES; NAKAMURA, VICTOR KOJI; CAGINI, NATHALIA; GONCALVES, ROZANA FATIMA; et al. Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, v. 6, n. 4, p. 1209+, . (14/27198-8, 13/02661-4, 11/24142-3, 11/23439-2)
FELTRAN, LUCIANA S.; VARELA, PATRICIA; SILVA, ELTON DIAS; VERONEZ, CAMILA LOPES; FRANCO, MARIA CARMO; PACHECO FILHO, ALVARO; CAMARGO, MARIA FERNANDA; KOCH NOGUEIRA, PAULO CESAR; PESQUERO, JOAO BOSCO. Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant. TRANSPLANTATION, v. 101, n. 12, p. 2905-2912, . (15/25494-1, 14/27198-8)
VERONEZ, CAMILA LOPES; AABOM, ANNE; MARTIN, RENAN PAULO; FILIPPELLI-SILVA, RAFAEL; GONCALVES, ROZANA FATIMA; NICOLICHT, PRISCILA; MENDES, AGATHA RIBEIRO; DA SILVA, JANE; GUILARTE, MAR; GRUMACH, ANETE SEVCIOVIC; et al. Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema. FRONTIERS IN MEDICINE, v. 6, . (15/25494-1, 13/02661-4, 14/27198-8)
DE OLIVEIRA, VIVIAN CRISTINA; DE LACERDA, MARCELO PITOMBEIRA; MUNIZ MORAES, BARBARA BOMFIM; GOMES, CAIO PEREZ; MARICATO, JULIANA TERZI; SOUZA, OLIVIA FONSECA; SCHENKMAN, SERGIO; PESQUERO, JOAO BOSCO; MORETTI, NILMAR SILVIO; RODRIGUES, CELSO ARRAIS; et al. Deregulation of Ikaros expression in B-1 cells: New insights in the malignant transformation to chronic lymphocytic leukemia. Journal of Leukocyte Biology, v. 106, n. 3, SI, p. 581-594, . (11/51973-3, 15/01986-2, 14/27198-8)
VERONEZ, CAMILA LOPES; MAGHSODI, SARA; TODIRAS, MIHAIL; POPOVA, ELENA; RODRIGUES, ANDRE FELIPE; QADRI, FATIMUNNISA; PESQUERO, JOAO BOSCO; BADER, MICHAEL. Endothelial B2-receptor overexpression as an alternative animal model for hereditary angioedema. ALLERGY, v. 74, n. 10, . (14/27198-8, 16/23304-3)

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