Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Autor: Camila D.Almeida Mgnani Silva, Débora de Paula Michelatto, Ana Letícia Gori Lusa, Soara Menabo, Leif Karlsson, Bengt Persson, Svetlana Lajic, Linus J. Östberg, Lilia Baldazzi, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Antonio Balsamo, Michela Barbaro, Maricilda Palandi de Mello, Nella Augusta Greggio

Publikováno v: Clinical Biochemistry. 73:50-56

Objective Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism and a common disorder of sex development where >90% of all cases are due to 21-hydroxylase deficiency. Novel and rare pathogenic variants account for 5% of all clinical c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c83e5965ad00935378e629d8daf720a
https://doi.org/10.1016/j.clinbiochem.2019.07.009

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

Autor: Reginaldo José Petroli, Maricilda Palandi de Mello, Ana Letícia Gori Lusa, Flávia Leme de Calais, Fernanda Caroline Soardi, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Roberto Benedito de Paiva e Silva

Publikováno v: International Journal of Molecular Sciences
Volume 12
Issue 12
Pages 9471-9480
International Journal of Molecular Sciences, Vol 12, Iss 12, Pp 9471-9480 (2011)

The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c67025b149e7515bf7bc4704d47b675
https://doi.org/10.3390/ijms12129471

Biochemical and biophysical studies of metalloproteinases/disintegrins from snake venom

Autor: Ana Letícia Gori Lusa

Publikováno v: Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP

Metaloproteases/desintegrinas (MD) isoladas de venenos de serpentes são potentes inibidores de agregação plaquetária e de adesão celular, processos envolvidos em doenças como trombose e câncer. As MD pertencem a classe PIII das SVMPs (´snake

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9344e0e3baa65948cf627cefec9b274