| 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) · Mapped (16) |
| 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. et al.
Hum. Genet. 129:397-405(2011) · Mapped (4) |
| 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) · UniProtKB (1) |
| Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. Landau Z., Hanukoglu A., Sack J., Goldstein N., Weintrob N., Eliakim A., Gillis D., Sagi M., Shomrat R., Kosinovsky E.B. et al.
Clin. Endocrinol. (Oxf) 72:448-454(2010) · Mapped (3) |
| 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) · UniProtKB (2) · Mapped (4) |
| Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Edelheit O., Hanukoglu I., Gizewska M., Kandemir N., Tenenbaum-Rakover Y., Yurdakoek M., Zajaczek S., Hanukoglu A.
Clin. Endocrinol. (Oxf.) 62:547-553(2005) · UniProtKB (2) |
| Type 1 diabetes in Jewish Ethiopian immigrants in Israel: HLA class II immunogenetics and contribution of new environment. Zung A., Elizur M., Weintrob N., Bistritzer T., Hanukoglu A., Zadik Z., Phillip M., Miller K., Koren I., Brautbar C. et al.
Hum. Immunol. 65:1463-1468(2004) · Mapped (636) |
| Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. Saxena A., Hanukoglu I., Saxena D., Thompson R.J., Gardiner R.M., Hanukoglu A.
J. Clin. Endocrinol. Metab. 87:3344-3350(2002) · UniProtKB (3) · Mapped (13) |
| 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., Hanukoglu A.
Biochem. Biophys. Res. Commun. 252:208-213(1998) · UniProtKB (1) |
| Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Chang S.S., Grunder S., Hanukoglu A., Roesler A., Mathew P.M., Hanukoglu I., Schild L., Lu Y., Shimkets R.A., Nelson-Williams C. et al.
Nat. Genet. 12:248-253(1996) · UniProtKB (1) · Mapped (16) |
| 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) · UniProtKB (3) |
