| 1 |
34089516 | Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations. | 2022 Apr |
1 |
| 2 |
33442688 | Fibrinolysis influences SARS-CoV-2 infection in ciliated cells. | 2021 Jan 8 |
1 |
| 3 |
33690157 | Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism. | 2021 May |
1 |
| 4 |
33829730 | A novel SCNN1A variation in a patient with autosomal-recessive pseudohypoaldosteronism type 1. | 2021 Apr 8 |
1 |
| 5 |
33916525 | DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes. | 2021 Apr 4 |
1 |
| 6 |
34134742 | Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town. | 2021 Jun 16 |
1 |
| 7 |
34223773 | A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome. | 2021 Oct |
1 |
| 8 |
31900739 | Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1. | 2020 May |
3 |
| 9 |
30100257 | Antisense oligonucleotide targeting of mRNAs encoding ENaC subunits α, β, and γ improves cystic fibrosis-like disease in mice. | 2019 May |
1 |
| 10 |
31018202 | Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes. | 2019 |
2 |
| 11 |
31655555 | Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report. | 2019 Oct 26 |
1 |
| 12 |
29757959 | Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure. | 2018 May 14 |
2 |
| 13 |
26807262 | Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. | 2016 |
2 |
| 14 |
27635187 | AMP-Activated Protein Kinase Attenuates High Salt-Induced Activation of Epithelial Sodium Channels (ENaC) in Human Umbilical Vein Endothelial Cells. | 2016 |
1 |
| 15 |
25378078 | A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case. | 2015 Apr |
1 |
| 16 |
23641881 | Failure to thrive, hyponatremia, and hyperkalemia in a neonate. | 2013 May |
1 |
| 17 |
22150373 | Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report. | 2012 |
2 |
| 18 |
22566498 | Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. | 2012 Jun |
1 |
| 19 |
21670672 | Physiological regulation of epithelial sodium channel by proteolysis. | 2011 Sep |
1 |
| 20 |
21741370 | COMMD1 regulates the delta epithelial sodium channel (δENaC) through trafficking and ubiquitination. | 2011 Aug 5 |
1 |
| 21 |
21750640 | Critical points in the management of pseudohypoaldosteronism type 1. | 2011 |
1 |
| 22 |
20090362 | Genetic variations in the sodium balance-regulating genes ENaC, NEDD4L, NDFIP2 and USP2 influence blood pressure and hypertension. | 2010 |
1 |
| 23 |
20376516 | Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. | 2010 Jun |
1 |
| 24 |
19344080 | A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. | 2009 Jan |
1 |
| 25 |
17317952 | Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. | 2007 |
1 |
| 26 |
17634077 | A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. | 2007 Nov |
1 |
| 27 |
16618647 | No evidence of hearing loss in pseudohypoaldosteronism type 1 patients. | 2006 Mar |
2 |
| 28 |
16630545 | Rab27a regulates epithelial sodium channel (ENaC) activity through synaptotagmin-like protein (SLP-5) and Munc13-4 effector mechanism. | 2006 Jun 2 |
1 |
| 29 |
16868910 | [Genetics and arterial hypertension: monogenic forms]. | 2006 May-Jun |
1 |
| 30 |
12679457 | Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. | 2003 Apr |
1 |
| 31 |
12503866 | Pseudohypoaldosteronism type 1 and respiratory distress syndrome. | 2002 Nov-Dec |
1 |
| 32 |
11344206 | Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. | 2001 May |
1 |
| 33 |
8640238 | A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. | 1996 Jun |
1 |