CV Lattes
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Universidade de São Paulo (USP). Faculdade de Medicina (FM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
graduate at Medicina from Faculdade de Ciências Médicas de Santos (1987), ph.d. at Endocrinology from Universidade de São Paulo (1995) and ph.d. at Endocrinology from National Institutes of Health (1995). Has experience in Medicine, focusing on Endocrinology, acting on the following subjects: puberdade precoce, receptor, lh, puberdade and mutação. (Source: Lattes Curriculum)
| Articles published in Pesquisa FAPESP Magazine about the researcher: |
| Early awakening |
| Despertar precoz |
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Combined pituitary hormone deficiency (CPHD) is a rare condition affecting the development ofthe pituitary gland with subsequent hormone deficiencies and has an estimated prevalence of1:8000 births. Despite the accumulated knowledge of the genetic causes of CPHD, the diagnosticyield is only around 10 to 15%, prompting researchers to pursue new genes involved in thisdisease. CPHD shares cl…
Disorders of the reproductive axis are classically grouped according to their origin (central/secondary or peripheral/primary) and commonly determine relevant impairments in the individual's hormonal, reproductive and psychological health at all stages of life. The etiology of several congenital diseases involving the hypothalamic-pituitary region, such as central and peripheral precociou…
Disorders of growth and pubertal development in humans are under a strong genetic influence, including models of classic mendelian inheritance, as well as oligogenic and polygenic inheritance. New genetic tools have been recently developed, allowing simultaneous investigation of different genes and, in some cases, screening of the complete genome, in diseases with a genetic basis. The pr…
Human growth and development represent a sequential process, during which the fertile egg reaches the adult state. Growth is characterized by the balanced cellular multiplication, whereas development is mainly characterized by cellular differentiation. In the present project, we will analyze different genes in clinical syndromes implicated in human growth and development. In the growth mo…
Short stature is a common disorder, however, the etiology is established in only a small fraction of cases. Somatic growth depends on the normal synthesis and action of growth hormone (GH). Several genes are involved in the pituitary organogenesis (HESX1, LHX-3, PROP-1), in GH synthesis (GHRHR, GH-1) and in GH action (GHR), and therefore regulate GH synthesis and action determining statur…
(Only some records are available in English at this moment)
Precocious puberty occurs when the development of secondary sexual characteristics occurs before 8 years of old in girls and before 9 years old in boys. The most common mechanism of precocious puberty is the premature activation of pulsatile GnRH secretion, characterized as Central Precocious Puberty (CPP). Recent studies have allowed further elucidation of the etiology of Precocious Pube…
Inactivating mutations of the MKRN3 gene are the most prevalent genetic cause of central precocious puberty. The relationship between mutations in this gene and CPP is due to changes in other hormonal pathways, such as kisspeptin and neurokinin B, which culminate in the early reemergence of GnRH peaks. Considering the prevalence and mechanisms of action, the analysis of the MKRN3 gene is …
Rare inactivating allelic variants in the MKRN3 and DLK1 genes have been identified as monogenic causes of central precocious puberty (CPP). Patients with familial CPP and DLK1 mutations have shown a higher frequency of metabolic alterations in adulthood. Similar to this finding, studies have shown that Dlk1-deficient mice also have metabolic alterations. The association between puberty a…
Distinct studies have shown the participation of (epi)genetic mechanisms in the human pubertal control. The recognition of genetic causes of central precocious puberty (CPP) have increased, especially with the identification of mutations in two imprinted genes (MKRN3 and DLK1) in familial cases of non-syndromic CPP. Both genes are located at critical regions of (epi)genetic syndromes know…
(Only some records are available in English at this moment)
Central precocious puberty (CPP) is caused by premature re-emergence of pulsatile hypothalamic gonadotropin-releasing hormone (GnRH) secretion. The recognition of the genetic influence in this disturb has significantly increased after the description of loss-of-function mutations in two maternally imprinted genes (MKRN3 and DLK1) causing paternally transmitted CPP. The mechanisms of react…
| 2 / 2 | Ongoing grants |
| 13 / 10 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 18 / 9 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 35 / 23 | All research grants and scholarships |
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