Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-79804-y
Abstract: SCNN1B encodes the beta subunit of the epithelial sodium channel ENaC. Previously, we reported an association between SNP markers of SCNN1B gene and disease severity in cystic fibrosis-affected sibling pairs. We hypothesized that factors interacting… read more here.
Keywords: sibling pairs; discordant sibling; information discordant; genetic information ... See more keywords
Sodium Channel Subunit SCNN1B Suppresses Gastric Cancer Growth and Metastasis via GRP78 Degradation.
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DOI: 10.1158/0008-5472.can-16-1595
Abstract: There remains a paucity of functional biomarkers in gastric cancer. Here, we report the identification of the sodium channel subunit SCNN1B as a candidate biomarker in gastric cancer. SCNN1B mRNA expression was silenced commonly by… read more here.
Keywords: gastric cancer; sodium channel; channel subunit; cancer ... See more keywords
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B
Sign Up to like & getrecommendations! Published in 2018 at "Endocrine Connections"
DOI: 10.1530/ec-18-0484
Abstract: Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a… read more here.
Keywords: family; frameshift mutation; novel frameshift; scnn1b ... See more keywords