635 | Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 12:248-253, 1996. |
404 | Steroidogenic enzymes: structure, function, and role in regulation of steroid hormone biosynthesis. J Steroid Biochem Molec Biol 43:779-804, 1992. |
312 | The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell 33:915-924, 1983. |
278 | The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. Cell 31:243-252, 1982. |
235 | Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene 579:95-132, 2016. |
225 | The concise guide to pharmacology: Overview. Br J Pharmacol 174:Suppl. 1: S1-S16, 2017. |
220 | Simple and efficient site-directed mutagenesis using two single-primer reactions in parallel to generate mutants for protein structure-function studies. BMC Biotechnology 9:61, 2009. |
195 | cDNA sequence of adrenodoxin reductase. Identification of NADP-binding sites in oxidoreductases. Eur J Biochem 180:479-484, 1989. |
195 | Antioxidant protective mechanisms against reactive oxygen species (ROS) generated by mitochondrial P450 systems in steroidogenic cells (Review). Drug Metab Rev 38:171-196, 2006. |
135 | Olfactory-specific cytochrome P-450. cDNA cloning of a novel neuroepithelial enzyme possibly involved in chemoreception. J Biol Chem 264:6780-6785, 1989. |
123 | Mitochondrial cytochrome P-450scc. Mechanism of electron transport by adrenodoxin. J Biol Chem 255:3057-3061, 1980. |
112 | Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions. J Mol Biol 163:673-678, 1983. |
107 | The structure of adrenodoxin reductase of mitochondrial P450 systems: electron transfer for steroid biosynthesis. J Mol Biol 289:981-990, 1999. |
101 | Electron leakage from the mitochondrial NADPH-adrenodoxin reductase-adrenodoxin-P450scc (cholesterol side chain cleavage) system. Arch Biochem Biophys 305:489-498, 1993. |
93 | Unraveling the structure of the intermediate filaments. Cell 34:332-334, 1983. |
90 | Adrenal mitochondrial cytochrome P-450scc. Cholesterol and adrenodoxin interactions at equilibrium and during turnover. J Biol Chem 256:4321-4328, 1981. |
89 | Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen-q25 are expressed in steroidogenic tissues. Proc Natl Acad Sci USA 85:7104-7108, 1988. |
85 | Stoichiometry of mitochondrial cytochromes P-450, adrenodoxin and adrenodoxin reductase in adrenal cortex and corpus luteum: Implications for membrane organization and gene regulation. Eur J Biochem 157:27-31, 1986. |
85 | Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways. Histochem Cell Biol 137:339-353, 2012. |
77 | Proteopedia: Rossmann fold: A beta-alpha-beta fold at dinucleotide binding sites. Biochem Mol Biol Edu 43:206-209, 2015. |
71 | Induction and mitochondrial localization of cytochrome P450scc system enzymes in normal and transformed ovarian granulosa cells. J Cell Biol 111:1373-1381, 1990. |
68 | Mechanism of corticotropin and cAMP induction of mitochondrial cytochrome P450 system enzymes in adrenal cortex cells. J Biol Chem 265:20602-20608, 1990. |
62 | Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum Mol Genet 5:293-299, 1996. |
58 | Mechanisms of ionic activation of adrenal mitochondrial cytochromes P-450scc and P-45011 beta. J Biol Chem 256:4329-4335, 1981. |
58 | Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multi-system pseudohypoaldosteronism (Review). Clin Endocrinol. 62:547-553, 2005. |
55 | Antioxidant capacity is correlated with steroidogenic status of the corpus luteum during the bovine estrous cycle. Biochim Biophys Acta 1380:133-140, 1998. |
50 | ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters. FEBS J 284:525-545, 2017. |
47 | Electron leakage from the adrenal cortex mitochondrial P450scc and P450c11 systems: NADPH and steroid dependence. Arch Biochem Biophys 317:412-416, 1995. |
47 | Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. J Steroid Biochem Mol Biol 111:268-274, 2008. |
46 | Routes and regulation of NADPH production in steroidogenic mitochondria. Endocr Res 21:231-241, 1995. |
44 | A fluorimetric assay for hydrogen peroxide, suitable for NAD(P)H-dependent superoxide generating redox systems. Anal Biochem 218:309-313, 1994. |
40 | Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages. Histochem Cell Biol 147:733–748, 2017. |
38 | Progesterone metabolism in the pineal, brain stem, thalamus and corpus callosum of the female rat. Brain Res 125:313-324, 1977. |
38 | Novel mutations responsible for autosomal recessive multi-system pseudohypoaldosteronism and sequence variants in Epithelial Sodium Channel (ENaC) alpha, beta and gamma subunit genes. J Clin Endocrinol Metab 87:3344-3350, 2002. |
32 | Mitochondrial-genome-encoded RNAs: differential regulation by corticotropin in bovine adrenocortical cells. Proc Natl Acad Sci USA 90:10509-10513, 1993. |
31 | cDNA cloning and sequence analysis of the bovine adrenocorticotropic hormone (ACTH) receptor. Biochim Biophys Acta 1220:329-332, 1994. |
30 | Isolation of a cDNA for adrenodoxin reductase (ferredoxin-NADP+ reductase). Implications for mitochondrial cytochrome P-450 systems. Eur J Biochem 169:449-455, 1987. |
28 | Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. Hum Genet 129:397-405, 2011. |
25 | The nature and significance of differential keratin gene expression. Ann N Y Acad Sci 455:436-450, 1985. |
24 | In situ localization of ACTH receptor-like mRNA in molluscan and human immunocytes. Cell Mol Life Sci 54:139-142, 1998. |
24 | Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit. Biochem Biophys Res Commun 252:208-213, 1998. |
24 | Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. J Steroid Biochem Mol Biol 119:84-88, 2010. |
22 | Identification of the roles of conserved charged residues in the extracellular domain of epithelial sodium channel (ENaC) subunit by alanine mutagenesis. Am J Physiol Renal Physiol 300:F887-F897, 2011. |
21 | Localization of epithelial sodium channel (ENaC) and CFTR in the germinal epithelium of the testis, Sertoli cells, and spermatozoa. J Mol Histol 49:195-208, 2018. |
20 | Chaperone-assisted expression of authentic bovine adrenodoxin reductase in Escherichia coli. FEBS Lett 443:167-169, 1999. |
19 | Prostaglandins as first mediators of stress [letter]. N Engl J Med 296:1414, 1977. |
18 | Conservation of the enzyme-coenzyme interfaces in FAD and NADP binding adrenodoxin reductase - A ubiquitous enzyme. J Mol Evol 85:205-218, 2017. |
17 | Conserved charged residues at the surface and interface of epithelial sodium channel (ENaC) subunits: roles in cell surface expression and Na+ self-inhibition response. FEBS J 281:2097-2111, 2014. |
17 | Identification and classification of epithelial cells in nephron segments by actin cytoskeleton patterns. FEBS J 287:1176-1194, 2020. |
16 | Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. J Clin Endocrinol Metab 80:3341-3345, 1995. |
14 | ACTH induces TIMP-1 expression and inhibits collagenase in adrenal cortex cells. Mol. Cell. Endocrinol. 215:109-114, 2004. |
13 | Oncogene-transformed granulosa cells as a model system for the study of steroidogenic processes. J Steroid Biochem Molec Biol 43:875-884, 1992. |
13 | Selective increases in adrenal steroidogenic capacity during acute respiratory disease in infants. Eur J Endocrinol 133:552-556, 1995. |
13 | Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone. J Steroid Biochem Mol Biol 60:105-112, 1997. |
13 | Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation. Clin Exp Nephrol 14:518-519, 2010. |
12 | Proteopedia: Coiled-coil structure of keratins. Biochem Mol Biol Edu 42:93-94, 2014. |
11 | Mapping the sites of localization of epithelial sodium channel (ENaC) and CFTR in segments of the mammalian epididymis. J Mol Histol 50:141–154, 2019. |
10 | Cloning of LL5, a novel protein encoding cDNA from a rat pituitary library. Biochim Biophys Acta 1216:342-344, 1993. |
9 | Cloning of ACTH-regulated genes in the adrenal cortex. J Steroid Biochem Mol Biol 49:257-260, 1994. |
8 | Elimination of non-specific binding in western blots from non-reducing gels. J Biochem Biophys Methods 21:65-68, 1990. |
7 | Amiloride-sensitive epithelial sodium channel (ENaC) subunits are expressed in human and mussel immunocytes. Dev Comp Immunol 26:395-402, 2002. |
7 | Expression of the epithelial sodium channel (ENaC) in the endometrium – implications for fertility in a patient with pseudohypoaldosteronism. J Steroid Biochem Mol Biol 183:137-141, 2018. |
6 | The evolution and complexity of the genes encoding the cytoskeletal proteins of human epidermal cells. Curr Probl Dermatol 11:27-44, 1983. |
6 | The Concise Guide to Pharmacology 2021/22: Ion channels.. Br. J. Pharmacol. 178 Suppl 1:S157-S245, 2021. |
5 | Tissue- and species-dependent expression of sheep lung microsomal cytochrome P4502B(LgM2). Biochem Mol Biol Int 37:1121-1126, 1995. |
5 | Gene Wiki Reviews-Raising the quality and accessibility of information about the human genome. Gene 592:235-238, 2016. |
5 | High-resolution imaging of the actin cytoskeleton and epithelial sodium channel (ENaC), CFTR and aquaporin-9 localization in the vas deferens. Mol Reprod Dev 87:305-319, 2020. |
3 | Molecular models of anesthetic drug action - variations on a theme [letter]. Anesthesiology 47:532-534, 1977. |
2 | Current research on steroid metabolism: transition from biochemistry to molecular-cell biology. J Steroid Biochem Molec Biol 43:745-749, 1992. |
2 | In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient. Clin Endocrinol. 89:240-241, 2018. |