CYTOCHROMES P450 AS THERAPEUTIC TARGETS AND COUNTER-TARGETS FOR THE PREVENTION OF LUNG CANCER AND TREATMENT OF STEROIDOGENIC DISEASES [PDF]
, 2012 Cytochrome P450 (CYP) is a superfamily of heme-containing monooxygenase enzymes that metabolize a variety of endogenous and exogenous substrates. These transformations can be advantageous in the role of homeostasis or clearance of foreign compounds ...
Blake, Linda Cherise
core
Análisis molecular del gen CYP21A2 en muestras de sangre seca en papel de filtro [PDF]
, 2020 La hiperplasia suprarrenal congénita (HSC) es un desorden autosómico recesivo producido por la deficiencia de alguna de las enzimas involucradas en la biosíntesis de cortisol.
Belgorosky, Alicia +6 more
core
Alta freqüência da mutação Q318X em pacientes com hiperplasia adrenal congênita por deficiência da 21-hidroxilase no nordeste do Brasil [PDF]
, 2009 OBJETIVOS: Deficiência de 21-hidroxilase é a forma mais comum de hiperplasia adrenal congênita (CAH-21OH). O objetivo deste estudo foi determinar, por PCR alelo-específica, a freqüência de microconversões no CYP21A2, em 16 pacientes com a forma clássica ...
Aguiar-Oliveira, Manuel Herminio +4 more
core
PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping [PDF]
, 2021 Zachary Stephens +5 more
openalex +1 more source
Análisis de variantes génicas en el gen CYP21A2
, 2019 Congenital Adrenal Hyperplasia (CAH) constitutes a series of autosomal recessive disorders in which adrenal steroidogenesis is affected. In 95% of the cases, CAH is caused by 21-hydroxylase deficiency. This deficit can be severe (classical form), with two clinical forms, salt wasting (SW) and simple virilizing (SV), or be mild or non-classical (NC ...
openaire +2 more sources
О различиях в частотах аллелей полиморфизма -153 С/Т ММР-7 среди женщин с преэклампсией и контрольной группой [PDF]
, 2015 Изучение полиморфизма матриксной металлопротеиназы-7 (-153 C/T MMP-7) у женщин с преэклампсией и в контрольной ...
Должиков, А. А. +2 more
core
HeliyonObjective: To explore the correlation between different CYP21A2 pathogenic gene mutations and clinical phenotypes in Congenital adrenal hyperplasia (CAH) patients.
Yanru Hou, Yian Li, Jiajia Ai, Li Tian
doaj
Pregnanetriol in the Range of 1.2-2.1mg/m2/day as an Index of Optimal Control in CYP21A2 Deficiency
, 2007 Masako Izawa +4 more
openalex +2 more sources