A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
about
Role of the UPS in Liddle syndromeA mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channelRegulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination.Salt handling and hypertensionInactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancyBiased exon/intron distribution of cryptic and de novo 3' splice sitesDefective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathiesNovel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronismGenomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channelA human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domainAutosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channelDEG/ENaC channels: a touchy superfamily that watches its salt.Endothelin-1 inhibits the epithelial Na+ channel through betaPix/14-3-3/Nedd4-2.Cytochalasin E alters the cytoskeleton and decreases ENaC activity in Xenopus 2F3 cells.Ion channels and the control of blood pressure.Regulation of the epithelial sodium channel (ENaC) by membrane traffickingImpaired renal Na(+) retention in the sgk1-knockout mouse.Sodium transport deficiency and sodium balance in gene-targeted mice.Nasal potential difference to detect Na+ channel dysfunction in acute lung injury.Abnormal regulation of ENaC: syndromes of salt retention and salt wasting by the collecting duct.Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype.Variation in genes that regulate blood pressure are associated with glomerular filtration rate in ChineseNoncoordinate regulation of ENaC: paradigm lost?Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.ENaCs and ASICs as therapeutic targets.Role of Sgk1 in salt and potassium homeostasis.Links between dietary salt intake, renal salt handling, blood pressure, and cardiovascular diseases.Ion channels in renal disease.Hypertension, kidney, and transgenics: a fresh perspective.Regulation of transport in the connecting tubule and cortical collecting ductPseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.Inherited renal acidoses.Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism.Pseudohypoaldosteronism type 1: clinical features and management in infancy.Deletion of α-subunit exon 11 of the epithelial Na+ channel reveals a regulatory moduleRegulation of epithelial sodium channel trafficking by ubiquitination.Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.Pathophysiology, diagnosis, and treatment of mineralocorticoid disorders.Renal acid-base regulation: new insights from animal models.
P2860
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P2860
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A novel splice-site mutation i ...... oaldosteronism type 1 families
@ast
A novel splice-site mutation i ...... oaldosteronism type 1 families
@en
A novel splice-site mutation i ...... oaldosteronism type 1 families
@en-gb
A novel splice-site mutation i ...... oaldosteronism type 1 families
@nl
type
label
A novel splice-site mutation i ...... oaldosteronism type 1 families
@ast
A novel splice-site mutation i ...... oaldosteronism type 1 families
@en
A novel splice-site mutation i ...... oaldosteronism type 1 families
@en-gb
A novel splice-site mutation i ...... oaldosteronism type 1 families
@nl
prefLabel
A novel splice-site mutation i ...... oaldosteronism type 1 families
@ast
A novel splice-site mutation i ...... oaldosteronism type 1 families
@en
A novel splice-site mutation i ...... oaldosteronism type 1 families
@en-gb
A novel splice-site mutation i ...... oaldosteronism type 1 families
@nl
P2093
P2860
P356
P1433
P1476
A novel splice-site mutation i ...... oaldosteronism type 1 families
@en
P2093
R J Thompson
R M Gardiner
S S Strautnieks
P2860
P2888
P304
P356
10.1038/NG0696-248
P407
P577
1996-06-01T00:00:00Z
P6179
1048267258