Assisted Reproduction in Congenital Adrenal Hyperplasia
Frontiers in Endocrinology, 2019 Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH ...
Anastasios Chatziaggelou +4 more
doaj +1 more source
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. [PDF]
, 1986 Yasuhiro Higashi +4 more
openalex +1 more source
Impaired release of Vitamin D in dysfunctional adipose tissue: New cues on Vitamin D supplementation in obesity [PDF]
, 2017 Context: Vitamin D accumulates in adipose tissue (AT) and vitamin D deficiency is frequent in obesity. Objective: We hypothesize that trafficking of vitamin D is altered in dysfunctional AT.
Azzena, Bruno +9 more
core +1 more source
Novel Nongenomic Signaling by Glucocorticoid May Involve Changes to Liver Membrane Order in Rainbow Trout [PDF]
arXiv, 2017 Stress-induced glucocorticoid elevation is a highly conserved response among vertebrates. This facilitates stress adaptation and the mode of action involves activation of the intracellular glucocorticoid receptor leading to the modulation of target gene expression. However, this genomic effect is slow acting and, therefore, a role for glucocorticoid in
arxiv
A Role of the Bile Salt Receptor FXR in Atherosclerosis [PDF]
, 2010 This study reviews current insights into the role of bile salts and bile salt receptors on the progression and regression of atherosclerosis. Bile salts have emerged as important modifiers of lipid and energy metabolism.
Groen, A.K. +3 more
core +3 more sources
Urology Case Reports, 2023 Congenital adrenal hyperplasia (CAH) causes hypogonadotropic hypogonadism due to the excessive production of adrenal androgens, which results in hypospermatogenesis in some male patients.
Atsushi Onishi +5 more
doaj
Immunohistochemical demonstration of steroid C-21 hydroxylase in normal and neoplastic salivary glands [PDF]
, 1988 Hironobu Sasano +2 more
openalex +1 more source
Autoantibody Binding to Steroid 21-hydroxylase – Effect of Five Mutations
Autoimmunity, 1997 Steroid 21-hydroxylase (21-OH) is a key haem containing steroidogenic enzyme and a major adrenal specific autoantigen. Cys 428 in 21-OH is thought to have an important role in haem binding and we now describe the effects of mutations at Cys 428 (to Ser, Arg and Phe) on 21-OH autoantibody binding.
T Asawa +5 more
openaire +3 more sources
Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]
, 2018 Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M +5 more
core
Mutational Spectrum of the Steroid 21-Hydroxylase Gene in Austria: Identification of a Novel Missense Mutation [PDF]
, 2001 Sabina Baumgartner‐Parzer +9 more
openalex +2 more sources