Results 91 to 100 of about 6,020 (257)
ANALYSIS CYP21A2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA [PDF]
Biotechnologia Acta, 2014 The technique of CYP21A2 gene mutation analysis, which can be applicable for pre- and postnatal diagnosis of congenital adrenal hyperplasia various types was developed.
Chernushyn S. Yu., Livshits L. A.
doaj +1 more source
Frontiers in Endocrinology, 2021 Cytochrome P450s (CYPs) are an essential family of enzymes in the human body. They play a crucial role in metabolism, especially in human steroid biosynthesis. Reactions catalyzed by these enzymes are highly stereo- and regio-specific.
Steffen Loke +7 more
doaj +1 more source
The complexities in genotyping of congenital adrenal hyperplasia: 21-hydroxylase deficiency [PDF]
, 2019 The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients’ self ...
Barros, A +5 more
core +1 more source
Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2 [PDF]
The Journal of Steroid Biochemistry and Molecular Biology, 2012 The human steroidogenic cytochromes P450 CYP17A1 (P450c17, 17α-hydroxylase/17,20-lyase) and CYP21A2 (P450c21, 21-hydroxylase) are required for the biosynthesis of androgens, glucocorticoids, and mineralocorticoids. Both enzymes hydroxylate progesterone at adjacent, distal carbon atoms and show limited tolerance for substrate modification.
Richard J. Auchus +2 more
openaire +3 more sources
Expanded carrier screening for inherited genetic disease using exome and genome sequencing
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap +13 more
wiley +1 more source
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia : epidemiological studies in a nonbiased national cohort in Sweden [PDF]
, 2014 Context: Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation.
Falhammar, Henrik +8 more
core +1 more source
Immunometabolism of Liver Xenotransplantation and Prospective Solutions
Advanced Science, Volume 12, Issue 9, March 6, 2025.After xenotransplantation, pig livers will replace those of human patients to maintain the stability of metabolism and immune system. The incompatibility of immunometabolism between humans and pigs induces rejection, inflammation, coagulation dysfunction, and liver failure. The profile of immunometabolism pre‐transplantation and post‐transplantation is
Shoulong Deng +4 more
wiley +1 more source
Estudo de variações de sequência do promotor do gene CYP21A2 em pacientes com suspeita de hiperplasia supra-renal congénita [PDF]
, 2015 Mestrado em Bioquímica - Métodos BiomolecularesA Hiperplasia Supra-Renal Congénita (HSRC), causada por deficiência na enzima 21-hidroxilase, constitui uma das doenças autossómicas recessivas mais frequentes.
Santos, Ana Patrícia Teixeira dos
core
HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications [PDF]
Hormone Research in Paediatrics, 2019 <b><i>Background:</i></b> The HIV drugs lopinavir and ritonavir have recently been reported to cause transient adrenal insufficiency in preterm newborns. We, therefore, considered HIV drugs as a cause of transiently elevated 17-hydroxyprogesterone (17OHP) levels in a neonatal screening test for congenital adrenal hyperplasia in ...
Tanja Zingg +13 more
openaire +4 more sources
Journal of the Endocrine Society, 2022 Steroid 21-hydroxylase is an enzyme of the steroid pathway that is involved in the biosynthesis of cortisol and aldosterone by hydroxylation of 17α-hydroxyprogesterone and progesterone at the C21 position.
Tina Schubert +11 more
semanticscholar +1 more source