Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism
about
Simple and efficient site-directed mutagenesis using two single-primer reactions in parallel to generate mutants for protein structure-function studiesEpithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airwaysEpithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseasesASIC and ENaC type sodium channels: conformational states and the structures of the ion selectivity filtersAutosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12Identification of the roles of conserved charged residues in the extracellular domain of an epithelial sodium channel (ENaC) subunit by alanine mutagenesisConserved charged residues at the surface and interface of epithelial sodium channel subunits--roles in cell surface expression and the sodium self-inhibition responseNovel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.Could a defective epithelial sodium channel lead to bronchiectasis.Transient tachypnea of the newborn: what is new?Proteases, cystic fibrosis and the epithelial sodium channel (ENaC).TNF Lectin-Like Domain Restores Epithelial Sodium Channel Function in Frameshift Mutants Associated with Pseudohypoaldosteronism Type 1BSystemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.Clinical features and molecular basis of pseudohypoaldosteronism type 1.Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in pointPseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates.Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.Physiological Regulation of the Epithelial Na+ Channel by Casein Kinase II.Structure of the human epithelial sodium channel by cryo-electron microscopy
P2860
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P2860
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism
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2005 nî lūn-bûn
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2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2005 թվականի մայիսին հրատարակված գիտական հոդված
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2005年の論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年论文
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name
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@ast
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@en
Novel mutations in epithelial ...... system pseudohypoaldosteronism
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type
label
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@ast
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@en
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@nl
prefLabel
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@ast
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@en
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@nl
P2093
P2860
P1476
Novel mutations in epithelial ...... system pseudohypoaldosteronism
@en
P2093
Aaron Hanukoglu
Israel Hanukoglu
Murat Yurdakök
Nurgun Kandemir
Oded Edelheit
Stanislaw Zajaczek
Yardena Tenenbaum-Rakover
P2860
P304
P356
10.1111/J.1365-2265.2005.02255.X
P407
P50
P577
2005-05-01T00:00:00Z