Helena Fabbri Scallet

CV Lattes 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)

News published in Agência FAPESP Newsletter about the researcher

TITULO

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VEICULO: TITULO (DATA)

Scholarships in Brazil

Completed (most recent)

Abstract
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…
TRANSCRIPTOME AND WHOLE EXOME SEQUENCING TO ELUCIDATE DIFFERENT PHENOTYPES OF DISORDERS OF SEXUAL DEVELOPMENT IN 46,XY PATIENTS, BP.PD
Abstract
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…
Functional analyses of new nucleotide variations in NR5A1 gene in patients 46,XY with disorders of sex development, BP.DR
NR5A1 molecular analysis in 46,XY patients with sex development disorders, BP.MS

Scholarships abroad

Completed (most recent)

Abstract
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…
Transcriptome and whole exome sequencing to elucidate different phenotypes of disorders of sexual development in 46,xy patients, BE.EP.PD
Abstract
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…
Functional analyses of novel nucleotides variations in the NR5A1 gene identified in patients 46,XY with disorders of sex development, BE.EP.DR

FAPESP support in numbers * Updated March 18, 2023

Total / Available in English

3 / 3	Completed scholarships in Brazil
2 / 2	Completed scholarships abroad
5 / 5	All Scholarships

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Most frequent collaborators in research granted by FAPESP

Keywords used by the researcher

Biological Sciences Genetics Health Sciences Medicine

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