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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
TLDR
Investigation of affected offspring of consanguineous union reveals mutations in either the α or β subunits of the amiloride-sensitive epithelial sodium channel in five kindreds that demonstrate the molecular basis and explain the pathophysiology of this disease. Expand
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
TLDR
A comparative overview of the genotype-phenotype relationships in inherited diseases associated with ENaC mutations, including multisystem pseudohypoaldosteronism (PHA1B), Liddle syndrome, cystic fibrosis-like disease and essential hypertension is presented. Expand
Steroidogenic enzymes: Structure, function, and role in regulation of steroid hormone biosynthesis
  • Israel Hanukoglu
  • Biology, Medicine
  • The Journal of Steroid Biochemistry and Molecular…
  • 1 December 1992
TLDR
The final part of the review on regulation of steroidogenesis includes a description of the normal physiological fluctuations in the steroid output of adrenal cortex and gonads, and provides an analysis of the relative role of enzyme levels in the determination of these fluctuations. Expand
Antioxidant Protective Mechanisms against Reactive Oxygen Species (ROS) Generated by Mitochondrial P450 Systems in Steroidogenic Cells
TLDR
It is shown consistently that adrenodoxin, but not reductase, is responsible for ROS production that can lead to apoptosis, and antioxidant enzyme activities superoxide dismutase, catalase, and glutathione peroxidase parallel steroidogenesis. Expand
cDNA sequence of adrenodoxin reductase. Identification of NADP-binding sites in oxidoreductases.
TLDR
A consensus sequence for the NADP-binding dinucleotide fold (GXGXXAXXXAXXXXXXG, in one-letter amino acid code) that differs from FAD and NAD-bindingdinucleotide-fold sequences is revealed. Expand
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism
TLDR
Three PHA patients were examined to identify mutations responsible for PHA with different clinical presentations and it was found that mutations in the genes encoding epithelial sodium channel subunits α, β and γ are responsible for the syndrome. Expand
THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Overview
The Concise Guide to PHARMACOLOGY 2017/18 is the third in this series of biennial publications. This version provides concise overviews of the key properties of nearly 1800 human drug targets with anExpand
Olfactory-specific cytochrome P-450. cDNA cloning of a novel neuroepithelial enzyme possibly involved in chemoreception.
TLDR
A new cytochrome P-450 genes expressed in the olfactory neuroepithelium are revealed, and intermediate level of sequence similarity to several liver cyto Chrome P- 450 enzymes suggest a role for this protein in Olfactory reception. Expand
Simple and efficient site-directed mutagenesis using two single-primer reactions in parallel to generate mutants for protein structure-function studies
TLDR
The SPRINP mutagenesis protocol yields mutants reliably and with high fidelity because the use of a single primer in each amplification reaction increases the probability of success of primers relative to previous methods employing a forward and reverse primer pair in the same reaction. Expand
Antioxidant capacity is correlated with steroidogenic status of the corpus luteum during the bovine estrous cycle.
TLDR
The correlation between the levels of some antioxidant enzymes and compounds with progesterone levels indicates that antioxidative mechanisms are activated to cope with steroidogenesis dependent oxyradical formation in the bovine corpus luteum. Expand
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