Detalhe da pesquisa
1.
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.
Int J Mol Sci
; 25(6)2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542117
2.
Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels.
Int J Mol Sci
; 23(17)2022 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077536
3.
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Int J Mol Sci
; 23(1)2021 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008721
4.
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Int J Mol Sci
; 21(17)2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32867102
5.
Finding New Molecular Targets of Familiar Natural Products Using In Silico Target Prediction.
Int J Mol Sci
; 21(19)2020 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32993084
6.
Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase.
Biochem Biophys Res Commun
; 515(1): 133-138, 2019 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31128914
7.
Bioactivity of Curcumin on the Cytochrome P450 Enzymes of the Steroidogenic Pathway.
Int J Mol Sci
; 20(18)2019 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31533365
8.
Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency.
Proc Natl Acad Sci U S A
; 117(26): 14632-14633, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576700
9.
Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells.
Biochim Biophys Acta
; 1853(10 Pt A): 2273-85, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025674
10.
Specificity of anti-prostate cancer CYP17A1 inhibitors on androgen biosynthesis.
Biochem Biophys Res Commun
; 477(4): 1005-1010, 2016 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27395338
11.
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
J Inherit Metab Dis
; 38(5): 815-27, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25778938
12.
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Hum Mutat
; 35(1): 27-35, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24166829
13.
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
J Biol Chem
; 288(48): 34599-611, 2013 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136197
14.
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
Am J Hum Genet
; 89(2): 201-18, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21802064
15.
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
Clin Endocrinol (Oxf)
; 80(2): 191-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23859637
16.
Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization.
PLoS One
; 19(2): e0297191, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38300925
17.
Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450.
Biomolecules
; 14(2)2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397440
18.
NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology.
Drug Metab Dispos
; 41(1): 12-23, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086197
19.
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nat Genet
; 36(3): 228-30, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14758361
20.
Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays.
Biomolecules
; 13(12)2023 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136599