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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. Enuka Y, et al. Histochem Cell Biol. 2012 Mar;137(3):339-53. doi: 10.1007/s00418-011-0904-1. Epub 2011 Dec 30. Histochem Cell Biol. 2012. PMID: 22207244
These findings indicate that ENaC functions as a regulator of the osmolarity of the periciliary fluid bathing the cilia. In contrast to ENaC, cystic fibrosis transmembrane conductance regulator (CFTR) that channels chloride ions from the cytoplasm to the lumen is located m …
These findings indicate that ENaC functions as a regulator of the osmolarity of the periciliary fluid bathing the cilia. In contrast …
Identification of the roles of conserved charged residues in the extracellular domain of an epithelial sodium channel (ENaC) subunit by alanine mutagenesis.
Edelheit O, Hanukoglu I, Dascal N, Hanukoglu A. Edelheit O, et al. Am J Physiol Renal Physiol. 2011 Apr;300(4):F887-97. doi: 10.1152/ajprenal.00648.2010. Epub 2011 Jan 5. Am J Physiol Renal Physiol. 2011. PMID: 21209000
Mutation of only six residues showed a significant effect on the Na(+) self-inhibition time constant (τ). All 16 mutants showed a strong correlation between ENaC activity and oocyte surface expression (r = 0.62). ...Control mutations to a homologous charged r …
Mutation of only six residues showed a significant effect on the Na(+) self-inhibition time constant (τ). All 16 mutants showed a
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, Yurdakök M, Zajaczek S, Hanukoglu A. Edelheit O, et al. Clin Endocrinol (Oxf). 2005 May;62(5):547-53. doi: 10.1111/j.1365-2265.2005.02255.x. Clin Endocrinol (Oxf). 2005. PMID: 15853823 Review.
The results revealed that the mild case represents a novel compound heterozygote including a missense (Gly327Cys) mutation in the alphaENaC gene. ...The other patients with severe PHA had two homozygous mutations, a novel deletion mutation in exon 8 of the al …
The results revealed that the mild case represents a novel compound heterozygote including a missense (Gly327Cys) mutation in …
Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism.
Boggula VR, Hanukoglu I, Sagiv R, Enuka Y, Hanukoglu A. Boggula VR, et al. Among authors: hanukoglu a. J Steroid Biochem Mol Biol. 2018 Oct;183:137-141. doi: 10.1016/j.jsbmb.2018.06.007. Epub 2018 Jun 6. J Steroid Biochem Mol Biol. 2018. PMID: 29885352
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Hanukoglu I, Hanukoglu A. Hanukoglu I, et al. Among authors: hanukoglu a. Gene. 2016 Apr 1;579(2):95-132. doi: 10.1016/j.gene.2015.12.061. Epub 2016 Jan 7. Gene. 2016. PMID: 26772908 Free PMC article. Review.
Conserved charged residues at the surface and interface of epithelial sodium channel subunits--roles in cell surface expression and the sodium self-inhibition response.
Edelheit O, Ben-Shahar R, Dascal N, Hanukoglu A, Hanukoglu I. Edelheit O, et al. Among authors: hanukoglu a. FEBS J. 2014 Apr;281(8):2097-111. doi: 10.1111/febs.12765. Epub 2014 Mar 17. FEBS J. 2014. PMID: 24571549 Free article.
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. Edelheit O, et al. J Steroid Biochem Mol Biol. 2010 Mar;119(1-2):84-8. doi: 10.1016/j.jsbmb.2010.01.002. Epub 2010 Jan 12. J Steroid Biochem Mol Biol. 2010. PMID: 20064610
In this study we identified two frameshift mutations in the SCNN1B alleles of a female infant diagnosed with multi-system PHA inherited from her parents. ...The findings reveal that truncated beta-ENaC subunits are capable of partially supporting intracellular transport of …
In this study we identified two frameshift mutations in the SCNN1B alleles of a female infant diagnosed with multi-system PHA inherit …
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. Hanukoglu A, et al. J Steroid Biochem Mol Biol. 2008 Sep;111(3-5):268-74. doi: 10.1016/j.jsbmb.2008.06.013. Epub 2008 Jun 26. J Steroid Biochem Mol Biol. 2008. PMID: 18634878
Patient A with a heterozygous Gly327Cys missense mutation in alphaENaC is a mild case and patients B, C and D are severe cases. ...In patient A, serum aldosterone and plasma renin activity (PRA) decreased with age, PRA reaching near normal values at ag …
Patient A with a heterozygous Gly327Cys missense mutation in alphaENaC is a mild case and patients B, C and D are sever …
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 RJ, Gardiner RM, Hanukoglu A. Saxena A, et al. J Clin Endocrinol Metab. 2002 Jul;87(7):3344-50. doi: 10.1210/jcem.87.7.8674. J Clin Endocrinol Metab. 2002. PMID: 12107247
Multisystem pseudohypoaldosteronism (PHA), is a syndrome of unresponsiveness to aldosterone with autosomal recessive inheritance. ...Our analyses revealed the following homozygous mutations in three probands: 1) insertion of a T in exon 8 of the alpha ENaC gene that …
Multisystem pseudohypoaldosteronism (PHA), is a syndrome of unresponsiveness to aldosterone with autosomal recessive inheritance. ... …
Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.
Hanukoglu I, Boggula VR, Vaknine H, Sharma S, Kleyman T, Hanukoglu A. Hanukoglu I, et al. Among authors: hanukoglu a. Histochem Cell Biol. 2017 Jun;147(6):733-748. doi: 10.1007/s00418-016-1535-3. Epub 2017 Jan 27. Histochem Cell Biol. 2017. PMID: 28130590
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