Publications of Hanukoglu on ENaC and Pseudohypoaldosteronism

Publications on Epithelial Sodium Channels (ENaC) and Pseudohypoaldosteronism

Full text REPRINTS of 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 an option on the menu.)

• Inheritance of pseudohypoaldosteronism

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

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• Aldosterone unresponsiveness (pseudohypoaldosteronism) results from mutations in epithelial sodium channel subunits [conference].

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. Reprint

• 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.

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. Reprint

• 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. DOI

• 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. Reprint

• 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. Reprint

• Conserved charged residues at the surface and interface of epithelial sodium channel (ENaC) subunits: roles in cell surface expression and Na+ self-inhibition response

Edelheit O., Ben-Shahar R., Dascal N., Hanukoglu A., Hanukoglu I.
FEBS J 281:2097-2111, 2014. Reprint

• Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases

Hanukoglu I., Hanukoglu A.
Gene 579:95-132, 2016. Reprint

• Gene Wiki Reviews-Raising the quality and accessibility of information about the human genome

Tsueng G., Good B.M., Ping P., Golemis E., Hanukoglu I., van Wijnen A.J., Su A.I.
Gene 592:235-238, 2016. Reprint

• ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters

Hanukoglu I.
FEBS J 284:525-545, 2017. Reprint

• Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages

Hanukoglu I., Boggula V.R., Vaknine H., Sharma S., Kleyman T., Hanukoglu A.
Histochem Cell Biol 147:733–748, 2017. Reprint

• The concise guide to pharmacology: Overview

Alexander SP, Kelly E, Marrion NV et al.
Br J Pharmacol 174:Suppl. 1: S1-S16, 2017. DOI

• Localization of epithelial sodium channel (ENaC) and CFTR in the germinal epithelium of the testis, Sertoli cells, and spermatozoa

Sharma S., Hanukoglu A., Hanukoglu I.
J Mol Histol 49:195-208, 2018. Reprint

• In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient

Hanukoglu A., Hanukoglu I.
Clin Endocrinol. 89:240-241, 2018. Reprint

• Expression of the epithelial sodium channel (ENaC) in the endometrium – implications for fertility in a patient with pseudohypoaldosteronism

Boggula V.R., Hanukoglu I., Sagiv R., Enuka Y., Hanukoglu A.
J Steroid Biochem Mol Biol 183:137-141, 2018. Reprint

• Mapping the sites of localization of epithelial sodium channel (ENaC) and CFTR in segments of the mammalian epididymis

Sharma S., Hanukoglu I.
J Mol Histol 50:141–154, 2019. DOI

• Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene

Hanukoglu A., Vargas-Poussou R., Landau Z., Yosovich K., Hureaux M., Zennaro M.C.
J Steroid Biochem Molec Biol 204:105755, 2020. DOI

• High-resolution imaging of the actin cytoskeleton and epithelial sodium channel (ENaC), CFTR and aquaporin-9 localization in the vas deferens

Sharma S., Kumaran G.K., Hanukoglu I.
Mol Reprod Dev 87:305-319, 2020. DOI

• Molecular Reproduction and Development, Vol. 87(2) Front Cover image.

Sharma S., Hanukoglu I.
Mol Reprod Dev 87(2):i, 2020. Reprint

• The Concise Guide to Pharmacology 2021/22: Ion channels.

Alexander S.P., et al.
Br. J. Pharmacol. 178 Suppl 1:S157-S245, 2021. DOI

• A retrospective evaluation of a decade of Gene Wiki Reviews and their impact

van Wijnen A.J., Golemis E., Hanukoglu I., Tsui S.K., Hu E., Ul-Hasan S., Joy, J., Su A.I., Tsueng G.
Gene 830:146534, 2022. Reprint