Israel Hanukoglu, Ph. D.
Department of Molecular Biology
Ariel University Center in Samaria
Ariel 44837, Israel

Publications on Epithelial Sodium Channels (ENaC) and Pseudohypoaldosteronism

NOTE: Full text REPRINTS of some recent publications are available below. Scroll down to see the hyperlinks.

(This is a partial list of publications of both Hanukoglu brothers, Aaron and Israel. For other topics select one of the options on the left side menu.)

Inheritance of pseudohypoaldosteronism.

Hanukoglu A., Fried D., and Gotlieb A. Lancet 1:1359-1359, 1978.

Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.

Hanukoglu A. J Clin Endocrinol Metab 73:936-944, 1991.

Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.

Hanukoglu A., Bistritzer T., Rakover Y., and Mandelberg, A. J Pediatr 125:752-755, 1994.
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Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.

Chung E., Hanukoglu A., Rees M., Thompson R., Dillon M., Hanukoglu I., Bistritzer T., Kuhnle U., Seckl J., and Gardiner R.M. J Clin Endocrinol Metab 80:3341-3345, 1995.
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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Chang S.S., Grunder S., Hanukoglu A., Rosler A., Mathew P.M., Hanukoglu I., Schild L., Lu Y., Shimkets R.A., Nelson-Williams C., Rossier B.C., and Lifton R.P. Nat Genet 12:248-253, 1996.
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Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.

Strautnieks S. S., Thompson R. J., Hanukoglu A., Dillon M.J., Hanukoglu I., Kuhnle U., Seckl J., Gardiner R. M., and Chung E. Hum Mol Genet 5:293-299, 1996.
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Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios.

Bistritzer T., Lahat E., Eshel G., Barr J., Hanukoglu A., and Aladjem M. Pediatr Nephrol 10:438-441, 1996.
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Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone.

Hanukoglu A., Joy O., Steinitz M., Rosler A., and Hanukoglu I. J Steroid Biochem Mol Biol 60:105-112, 1997.
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Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.

Saxena A., Hanukoglu I., Strautnieks S.S., Thompson R.J., Gardiner R.M., and Hanukoglu A. Biochem Biophys Res Commun 252:208-213, 1998.
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Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism.

Kerem E., Bistritzer T., Hanukoglu A., Hofmann T., Zhou Z., Bennett W., MacLaughlin E., Barker P., Nash M., Quittell L., Boucher R., and Knowles M. R. N Engl J Med 341:156-162, 1999.
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• Aldosterone unresponsiveness (pseudohypoaldosteronism) results from mutations in epithelial sodium channel subunits

Hanukoglu A., Saxena A., Gardiner R.M., and Hanukoglu I. Molecular Steroidogenesis (M. Okamoto, Y. Ishimura, H. Nawata, eds.), Universal Academy Press, Tokyo, Japan, pp. 369-370, 2000.

Growth hormone activates renin-aldosterone system in children with idiopathic short stature and in a pseudohypoaldosteronism patient with a mutation in epithelial sodium channel alpha subunit.

Hanukoglu A., Belutserkovsky O., Phillip M. J Steroid Biochem Mol Biol 77:49-57, 2001.
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• Aldosterone insensitivity syndromes (pseudohypoaldosteronism): from clinic to molecular biology of sodium transport

Hanukoglu A., Saxena A., and Hanukoglu I. Pol J Endocrinol 52 (Suppl. 1):27-37, 2001.

Novel mutations responsible for autosomal recessive multi-system pseudohypoaldosteronism and sequence variants in Epithelial Sodium Channel (ENaC) alpha, beta and gamma subunit genes.

Saxena A., Hanukoglu I., Saxena D., Thompson R. J., Gardiner R.M., and Hanukoglu A. J Clin Endocrinol Metab 87:3344-3350, 2002.
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Amiloride-sensitive epithelial sodium channel (ENaC) subunits are expressed in human and mussel immunocytes.

Ottaviani E., Franchini A., Mandrioli M., Saxena A., Hanukoglu A., Hanukoglu I. Dev Comp Immunol 26:395-402, 2002.
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Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multi-system pseudohypoaldosteronism (Review).

Edelheit O., Hanukoglu I., Gizewska M., Kandemir N., Tenenbaum-Rakover Y., Yurdakok M., Zajaczek S., Hanukoglu A. Clin Endocrinol. 62:547-553, 2005.
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Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.

Hanukoglu A., Edelheit O., Shriki Y., Gizewska M., Dascal N., Hanukoglu I. J Steroid Biochem Mol Biol 111:268-274, 2008.
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Simple and efficient site-directed mutagenesis using two single-primer reactions in parallel to generate mutants for protein structure-function studies.

Edelheit O., Hanukoglu A., and Hanukoglu I. BMC Biotechnology 9:61, 2009.
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Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.

Edelheit O., Hanukoglu I., Shriki Y., Tfilin M., Dascal N., Gillis, D., Hanukoglu A. J Steroid Biochem Mol Biol 119:84-88, 2010.
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Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation.

Hanukoglu A., Hanukoglu I. Clin Exp Nephrol 14:518-519, 2010.
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Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

Muhammad E., Leventhal N., Parvari G., Hanukoglu A., Hanukoglu I., Chalifa-Caspi V., Feinstein Y., Weinbrand J., Jacoby H., Manor E., Nagar T., Beck J.C., Sheffield V.C., Hershkovitz E., Parvari R. Hum Genet 129:397-405, 2011.

Identification of the roles of conserved charged residues in the extracellular domain of epithelial sodium channel (ENaC) subunit by alanine mutagenesis.

Edelheit O., Hanukoglu I., Dascal N., Hanukoglu A. Am J Physiol Renal Physiol 300:F887-F897, 2011.
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Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.

Enuka Y., Hanukoglu I., Edelheit O., Vaknine H., Hanukoglu A. Histochem Cell Biol 137:339-353, 2012.