Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects
about
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseasesLocalisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mappingAutosomal 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 mutagenesisExpression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit.Genetics of hypertension: from experimental animals to humans.A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene.GPR48 increases mineralocorticoid receptor gene expression.Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.Dermal and Ophthalmic Findings in Pseudohypoaldosteronism.Acute ENaC stimulation by cAMP in a kidney cell line is mediated by exocytic insertion from a recycling channel pool.Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.Molecular pathophysiology of renal tubular acidosis.Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.Pathophysiology, diagnosis, and treatment of mineralocorticoid disorders.Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk.Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathyGlucocorticoid and mineralocorticoid resistance.Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in pointErythrocyte Na+,K+-ATPase and nasal potential in pseudohypoaldosteronism.Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit.Pseudohypoaldosteronism type 1 and respiratory distress syndrome.Expression of claudin-7 and -8 along the mouse nephron.A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.Genetic mechanisms of human hypertension and their implications for blood pressure physiology.Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1.Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism.Pseudohypoaldosteronism: kidney, lungs and colon*
P2860
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P2860
Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects
description
1991 nî lūn-bûn
@nan
1991 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Type I pseudohypoaldosteronism ...... multiple target organ defects
@ast
Type I pseudohypoaldosteronism ...... multiple target organ defects
@en
Type I pseudohypoaldosteronism ...... multiple target organ defects
@nl
type
label
Type I pseudohypoaldosteronism ...... multiple target organ defects
@ast
Type I pseudohypoaldosteronism ...... multiple target organ defects
@en
Type I pseudohypoaldosteronism ...... multiple target organ defects
@nl
prefLabel
Type I pseudohypoaldosteronism ...... multiple target organ defects
@ast
Type I pseudohypoaldosteronism ...... multiple target organ defects
@en
Type I pseudohypoaldosteronism ...... multiple target organ defects
@nl
P356
P1476
Type I pseudohypoaldosteronism ...... multiple target organ defects
@en
P2093
A Hanukoglu
P304
P356
10.1210/JCEM-73-5-936
P407
P577
1991-11-01T00:00:00Z