Results 141 to 150 of about 6,020 (257)

Functional And Structural Consequences Of Nine Cyp21a2 Mutations Ranging From Very Mild To Severe Effects [PDF]

open access: yes, 2017
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)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 ...
Ana Leticia   +11 more
core   +1 more source

Structural and Functional Evaluation of Steroidogenic Cytochrome P450 Enzymes [PDF]

open access: yes, 2015
Cytochromes P450 (CYP450) are heme-containing monooxygenase enzymes that perform a variety of functions in humans, including xenobiotic metabolism and the production of endogenous signaling molecules.
Petrunak, Elyse Marie
core  

Alta freqüência da mutação Q318X em pacientes com hiperplasia adrenal congênita por deficiência da 21-hidroxilase no nordeste do Brasil [PDF]

open access: yes
OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the ...
AGUIAR-OLIVEIRA, Manuel H.   +4 more
core   +1 more source

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia [PDF]

open access: gold, 2003
Natália Torres   +5 more
openalex   +1 more source

Bioactivity of Curcumin on the Cytochrome P450 Enzymes of the Steroidogenic Pathway. [PDF]

open access: yes, 2019
Turmeric, a popular ingredient in the cuisine of many Asian countries, comes from the roots of the Curcuma longa and is known for its use in Chinese and Ayurvedic medicine.
Pandey, Amit Vikram   +2 more
core   +1 more source

Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due toCYP21A2Deficiency [PDF]

open access: bronze, 2009
Louise Frisén   +9 more
openalex   +1 more source

DNA methylation profiling of the human major histocompatibility complex: A pilot study for the Human Epigenome Project [PDF]

open access: yes, 2004
The Human Epigenome Project aims to identify, catalogue, and interpret genome-wide DNA methylation phenomena. Occurring naturally on cytosine bases at cytosine-guanine dinucleotides, DNA methylation is intimately involved in diverse biological processes ...
Andrews, TD   +13 more
core  

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