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Sodium channel, nonvoltage-gated 1, beta

beta-ENaC, SCNN1B
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009] (from NCBI)
Top mentioned proteins: ENaC, HAD, V1a, CAN, ATPase
Papers on beta-ENaC
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Hanukoglu et al., Jerusalem, Israel. In Gene, Feb 2016
The subunits that form ENaC (named as alpha, beta, gamma and delta, encoded by genes SCNN1A, SCNN1B, SCNN1G, and SCNN1D) are members of the ENaC/Degenerin superfamily.
Liddle's Syndrome: A Case Report.
Limwongse et al., In J Med Assoc Thai, Oct 2015
DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17].
Neonatal Genetic Variation in Steroid Metabolism and Key Respiratory Function Genes and Perinatal Outcomes in Single and Multiple Courses of Corticosteroids.
Eunice Kennedy Shriver National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network et al., Colombia. In Am J Perinatol, Oct 2015
HSD11B1 and SCNN1B minor alleles were associated with an increased likelihood of RDS.
Neonatal Pulmonary Macrophage Depletion Coupled to Defective Mucus Clearance Increases Susceptibility to Pneumonia and Alters Pulmonary Immune Responses.
Boucher et al., Chapel Hill, United States. In Am J Respir Cell Mol Biol, Jul 2015
To investigate interactions between pulmonary MΦ function and defective mucus clearance, a genetic model of lysozyme M (LysM) promoter mediated MΦ-depletion was generated, characterized, and crossed with the Scnn1b-Tg mouse model of defective mucus clearance.
Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
Schrijver et al., Stanford, United States. In J Cyst Fibros, May 2015
RESULTS: We identified four nonsynonymous amino acid variants in SCNN1A, three in SCNN1B and one in SCNN1G.
Hypoxic epithelial necrosis triggers neutrophilic inflammation via IL-1 receptor signaling in cystic fibrosis lung disease.
Mall et al., In Am J Respir Crit Care Med, May 2015
We recently demonstrated that hypoxic epithelial necrosis caused by airway mucus obstruction precedes neutrophilic inflammation in Scnn1b-transgenic (Scnn1b-Tg) mice with CF-like lung disease.
A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case.
Zhou et al., Beijing, China. In Clin Endocrinol (oxf), Apr 2015
OBJECTIVE: Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC).
Polymorphism profiling of nine high altitude relevant candidate gene loci in acclimatized sojourners and adapted natives.
Sarkar et al., Gwalior, India. In Bmc Genet, 2014
RESULTS: Statistically similar genotypic and allelic frequencies were observed between the sea level sojourners (acclimatized) and the high altitude natives (adapted) in six loci viz., EDN1 (endothelin 1) -3A/-4A VNTR, ADRB2 (beta-2 adrenergic receptor, surface) Arg16Gly (rs1042713:A > G), ADRB3 (beta-3 adrenergic receptor) Trp64Arg (rs4994:T > C), eNOS (nitric oxide synthase, endothelial) Glu298Asp (rs1799983:T > G), TH (tyrosine hydroxylase) Val81Met (rs6356:G > A) and VEGF (vascular endothelial growth factor) 963C > T (rs3025039:C > T) while SCNN1B (amiloride-sensitive sodium channel, subunit beta) Thr594Met (rs1799979:C > T) was monomorphic.
Disorders of aldosterone synthesis, secretion, and cellular function.
Root, Saint Petersburg, United States. In Curr Opin Pediatr, 2014
Secondary hypoaldosteronism (pseudohypoaldosteronism) occurs as a consequence of mutations in genes encoding the mineralocorticoid receptor (MR), the three subunits of the aldosterone-responsive, amiloride-sensitive nonvoltage-gated sodium channel encoded by SCNN1A, SCNN1B, and SCNN1G, the gene that regulates posttranslational phosphorylation (encoded by WNK4) of the thiazide-sensitive sodium chloride cotransporter encoded by SLC12A3, and those that regulate phosphorylation and ubiquitination of cofactors encoded by WNK1, KLH3, and CUL3 that affect WNK4 function.
Mineralocorticoid effects in the late gestation ovine fetal lung.
Keller-Wood et al., Gainesville, United States. In Physiol Rep, 2013
Effects on airway pressures during stepwise inflation of the in situ lung, expression of ENaC alpha (SCNN1A), ENaC beta (SCNN1B), and Na,K ATPase (ATP1A1), and elastin and collagen content were determined after the infusions.
Impaired myogenic constriction of the renal afferent arteriole in a mouse model of reduced βENaC expression.
Drummond et al., Jackson, United States. In Am J Physiol Renal Physiol, 2012
These findings demonstrate that myogenic constriction in afferent arterioles is dependent on normal expression of betaENaC
Epithelial Na⁺ channel activity in human airway epithelial cells: the role of serum and glucocorticoid-inducible kinase 1.
Wilson et al., Dundee, United Kingdom. In Br J Pharmacol, 2012
investigation of control of airway epithelial Na+ absorption via up-regulation/phosphorylation of ENaCalpha, ENaCbeta, and ENaCgamma involving SGK1 (serum-glucocorticoid regulated kinase 1) under control of glucocorticoid/dexamethasone
Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.
Hanukoglu et al., Jerusalem, Israel. In Histochem Cell Biol, 2012
ENaC on motile cilia should be essential for diverse functions of motile cilia, such as germ cell transport, fertilization, implantation, clearance of respiratory airways and cell migration.
Effects of rhinovirus infection on the expression and function of cystic fibrosis transmembrane conductance regulator and epithelial sodium channel in human nasal mucosa.
Jang et al., Ch'unch'ŏn, South Korea. In Ann Allergy Asthma Immunol, 2012
study found that rhinovirus (RV) infection of primary human nasal epithelial cells enhanced the expression of CFTR, alpha-ENaC, beta-ENaC, and gamma-ENaC mRNA and protein; upregulated CFTR might be dysfunctional, whereas RV-upregulated ENaC was hyperfunctional
Liddle syndrome in a Serbian family and literature review of underlying mutations.
Ludwig et al., Belgrade, Serbia. In Eur J Pediatr, 2012
Family study of hypertension caused by Liddle syndrome revealed a heterozygous mutation c.C1852T (p.Pro618Ser) in the SCNN1B gene.
Epithelial Na⁺ sodium channels in magnocellular cells of the rat supraoptic and paraventricular nuclei.
Armstrong et al., Baton Rouge, United States. In Am J Physiol Endocrinol Metab, 2012
Data indicate that functional ENaC (subunits Scnn1a, Scnn1b, and Scnn1g) may affect firing patterns of magnocellular cells (i.e., large neurons) in supraoptic nucleus and paraventricular nucleus and thus control secretion of vasopressin and oxytocin.
Proteomics and tubulopathies.
Capasso et al., Napoli, Italy. In J Nephrol, 2010
Liddle syndrome, a rare cause of hypertension, is now known to be caused by a mutation in tubular transport, due to a mutation in the SCNN1B gene, encoding for a Na+ channel protein (ENaC).
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.
Maiuri et al., Milano, Italy. In Nat Cell Biol, 2010
Restoration of beclin 1 and autophagy by either beclin 1 overexpression, cystamine or antioxidants rescues the localization of the beclin 1 interactome to the endoplasmic reticulum and reverts the CF airway phenotype in vitro, in vivo in Scnn1b-transgenic and Cftr(F508del) homozygous mice, and in human CF nasal biopsies.
Clinical and molecular features of type 1 pseudohypoaldosteronism.
Riepe, Kiel, Germany. In Horm Res, 2008
This review provides an overview on transepithelial sodium reabsorption and on clinical features and the underlying molecular pathology of systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and the mineralocorticoid receptor coding gene NR3C2.
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.
Chung et al., London, United Kingdom. In Nat Genet, 1996
These two chromosomal regions harbour the genes encoding the three subunits of the human amiloride sensitive epithelial sodium channel (hENaC): SCNN1B and SCNN1G on 16p and SCNN1A on 12p.
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