Systemic pseudohypoaldosteronism from deletion of the promoter region of the human β epithelial Na+ channel subunit

American Journal of Respiratory Cell and Molecular Biology

Volumn 27, Issue 3, 2002, Pages 314-319

  Thomas, Christie P ^a   Zhou, Jackie ^a   Liu, Kang Z ^a   Mick, Verity E ^a   MacLaughlin, Eithne ^a   Knowles, Michael ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0036726973     PISSN: 10441549     EISSN: None     Source Type: Journal    
DOI: 10.1165/rcmb.2002-0029OC     Document Type: Article

References (35)

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4. Mineralocorticoid action
5. Understanding how aldosterone increases sodium transport
6. Epithelial sodium channels: Function and regulation
7. + absorption
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11. Epithelial Na+ channel (ENaC) expression in the developing normal and abnormal human perinatal lung
12. Distribution of ion transport mRNAs throughout murine nose and lung
13. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects
14. Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory infections mimicking cystic fibrosis
15. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism
16. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the α-subunit of the epithelial sodium channel
17. Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G→A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1
18. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalemic acidosis, pseudohypoaldosteronism type 1
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21. 2-terminal variant proteins
22. The α subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5′ flanking region of the gene
23. Genomic organization of the 5′ end of human βENaC and preliminary characterization of its promoter
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26. In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
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29. Human hypertension caused by mutations in WNK kinases
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31. - transport across airway epithelia
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