bachelor's at Medicina from Faculdade de Medicina da USP (1984) and doctorate at Fisiologia Humana from Instituto de Ciências Biomédicas da USP/SP (1992). Has experience in Genetics, acting on the following subjects: pkhd1 gene, doença renal policística autossômica dominante, gene pkd1, doença renal policística autossômica recessiva and arpkd. (Source: Lattes Curriculum)
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The Extracellular Matrix (ECM) differs greatly across organs owing to complex variations required for specific organ structure and function. ECM modulates cell behavior and regulates cell-cell interactions in physiological mechanisms, processes largely dependent on modulation of cell signaling pathways. Disruptions of these mechanisms may lead to disease. In the current project we propose…
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic human illness, with an estimated prevalence of 1:1000. This disease is essentially caused by mutation in the PKD1 (Polycystic Kidney Disease 1) or PKD2 genes. Most cases arise from mutations in PKD1. Although the renal phenotype prevails in this disorder, with 70% of the patients requiring r…
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human inherited diseases, presenting an estimated prevalence of 1/400-1000. This disorder is caused by mutation in one of two genes: PKD1 (Polycystic Kidney Disease 1) or PKD2. Most of the cases (85%) occur due to mutations in PKD1, while PKD2 mutations respond for 15% of them. ADPKD usually manifests in adulth…
Recent studies and accomplishments on monogenic diseases have served not only to alleviate the dilemma of patients with these disorders, but also have yielded valuable information on biological processes relevant to other more common conditions. However, few centers are prepared to diagnose, follow up, and investigate monogenic developmental diseases in Brazil, the largest Latin American …
(Only some records are available in English at this moment)
In order to expand the understanding of glomerular development, cellular components and signaling pathways in homeostatic conditions between normal adult and pediatric renal tissue, we propose to evaluate the glomerular transcriptomic profile, single cell transcriptomic profile of glomerular cell subtypes and decode the protein composition of the Glomerular Extracellular Matrix (GEM). In …
Tuberous sclerosis complex (TSC) is a hamartomatosis due to mutations in either tumor suppressor gene, TSC1 or TSC2, which codes for hamartin and tuberin, respectively. These proteins form a macromolecular, cytosolic complex that regulates cell proliferation, differentiation, growth and migration, aspects commonly deficient in TSC hamartoma cells. Although TSC hamartomas may affect any or…
(Only some records are available in English at this moment)
| 1 / 1 | Ongoing research grants |
| 17 / 13 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 11 / 8 | Completed scholarships in Brazil |
| 1 / 0 | Completed scholarships abroad |
| 31 / 23 | All research grants and scholarships |
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CV Lattes
ORCID