Steroid profiling in male wobbler mouse, a model of Amyotrophic Lateral Sclerosis [PDF]
, 2016 The Wobbler mouse is an animal model for human motoneuron diseases, especially amyotrophic lateral sclerosis (ALS), used in the investigation of both pathology and therapeutic treatment.
Aprahamian, Fanny +9 more
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An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency [PDF]
The Journal of Molecular Diagnostics, 2001 Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), a group of inborn errors of adrenal steroid biosynthesis. 1 Approximately 1 in 14,000 newborns is affected with the classic form of the disease. A milder, late-onset or non-classic form that is clinically evident in approximately 1 in 1000 females also
C E, Keegan, A A, Killeen
openaire +2 more sources
Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. [PDF]
, 2015 The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter’s syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison’s disease (AD), Hashimoto ...
ANZUINI, Antonella +7 more
core +1 more source
Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
Frontiers in Endocrinology, 2023 21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period.
Tomoyo Itonaga +2 more
doaj +1 more source
Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]
, 2020 The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
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Cardiovascular abnormalities and impaired exercise performance in adolescents with congenital adrenal hyperplasia [PDF]
, 2015 Context: Patients with classic Congenital Adrenal Hyperplasia (CAH) are treated with lifelong glucocorticoids (GCS). Cardiovascular (CV) and metabolic effects of such therapy in adolescents have never been quantified.
Alessio, Maria +10 more
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Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant
Frontiers in Pediatrics, 2020 Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo +7 more
doaj +1 more source
Immunolocalization of steroidogenic enzymes in the vaginal mucous of Galea spixii during the estrous cycle. [PDF]
, 2017 BackgroundThe synthesis of sex steroids is controlled by several enzymes such as17α-hydroxylase cytochrome P450 (P450c17) catalyzing androgen synthesis and aromatase cytochrome P450 (P450arom) catalyzing estrogen synthesis, both of which must complex ...
Assis Neto, Antônio Chaves de +5 more
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Autoantibodies against Cytochrome P450 Side-Chain Cleavage Enzyme in Dogs (Canis lupus familiaris) Affected with Hypoadrenocorticism (Addison's Disease). [PDF]
PLoS ONE, 2015 Canine hypoadrenocorticism likely arises from immune-mediated destruction of adrenocortical tissue, leading to glucocorticoid and mineralocorticoid deficiency.
Alisdair M Boag +5 more
doaj +1 more source
Journal of Biological Chemistry, 2012 Background: Steroid 21-hydroxylase deficiency accounts for ∼95% of individuals with congenital adrenal hyperplasia (CAH). Results: The bovine cytochrome P450 21A2 (CYP21A2) crystal structure complexed with the substrate 17-hydroxyprogesterone was ...
Bin Zhao +7 more
semanticscholar +1 more source