Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Autor: Débora de Paula Michelatto, Leif Karlsson, Ana Letícia Gori Lusa, Camila D’Almeida Mgnani Silva, Linus Joakim Östberg, Bengt Persson, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Michela Barbaro, Maricilda Palandi de Mello, Svetlana Lajic

Publikováno v: International Journal of Endocrinology, Vol 2016 (2016)

We present the functional and structural effects of seven novel (p.Leu12Met, p.Arg16Cys, p.Ser101Asn, p.Ser202Gly, p.Pro267Leu, p.Gln389_Ala391del, and p.Thr450Met) and two previously reported but not studied (p.Ser113Phe and p.Thr450Pro) CYP21A2 mut

Externí odkaz: https://doaj.org/article/c14892cd77774b48826f166ccbcde065

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