CV Lattes
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ORCID
Universidade Estadual de Campinas (UNICAMP). Centro de Biologia Molecular e Engenharia Genética (CBMEG) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Has experience in Genetics, focusing on Human and Medical Genetics (Source: Lattes Curriculum)
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Sexual development occurs through the activation of genes expressed on the sex chromosomes that lead to the formation of ovary or testicle from a bipotent gonad. This plasticity observed in the bipotent gonad, enabling its differentiation into two functionally distinct organs, represents a vast field of study that can be explored through various approaches. Gonadal differentiation is a co…
Disorders/Differences of Sex Development (DSD) encompass a set of congenital conditions characterized by incomplete or disordered genital and/or gonadal development leading to a discordance between genetic, gonadal and phenotypic sex. Within the DSD, there is a group of patients who present, in addition to the ambiguous genitalia, some malformation, which may involve: intellectual disabil…
Disorders of Sex Development (DSD) comprise a group of congenital conditions characterized by incomplete or atypical development of the genitalia and/or gonads, leading to discordance between genetic, gonadal, and phenotypic sex. As the same genetic variant has been associated with a wide phenotypic spectrum in unrelated individuals with DSD, it has been suggested that the interaction of …
Conditions that present atypical genital and / or gonadal development leading to a disagreement among genetic, gonadal and phenotypic sex are classified as Sex Differentiation Disorders (DDS). Several genes are known to act in the pathways of sex determination and differentiation, such as: WT1, SRY, NR5A1, DMRT1, SOX9, GATA4, NR0B1, HAM, RA, SRD5A2, HSD17B3, among others. However, after s…
Disorders of Sex Differentiation (DSD) characterize incomplete or disorganized genital or gonadal development. DSD with 46,XY karyotype may present either ambiguous or female genitalia, and also dysgenetic gonads in some cases, with presence or absence of Müllerian derivatives. The most frequent condition in 46,XY DSD is androgen insensitivity followed by 5-alpha-reductase type 2 deficien…
Conditions that present atypical genital and/or gonadal development leading to a disagreement among genetic, gonadal and phenotypic sex are classified as Disorders/Differences of Sex Development (DSD). Several genes are known to act in the pathways of sex determination and differentiation, such as: WT1, SRY, NR5A1, DMRT1, SOX9, GATA4, NR0B1, AMH, AR, SRD5A2, HSD17B3, among others. However…
The objective of this project is to analyze the functional role of the mutations p.Cis65Tir, p.Arg39Cis, p.Ser32Asn and p.Cis247* in NR5A1 protein, as well as the effect of nucleotide variations (c.-133G>A, c.-156_-136ins18pb, c.-413G>A, c.-208C>A, and c.-762C>T) identified in NR5A1 5'UTR and exon 1, which are non-coding regions but are important for NR5A1 transcriptional regulation. This…
| 1 / 1 | Ongoing grants |
| 1 / 1 | Completed research grants |
| 3 / 3 | Ongoing scholarships in Brazil |
| 3 / 3 | Completed scholarships in Brazil |
| 2 / 2 | Completed scholarships abroad |
| 10 / 10 | All research grants and scholarships |
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