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2022 3
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Integrative single-cell and exosomal multi-omics uncovers SCNN1A and EFNA1 as non-invasive biomarkers and drivers of ovarian cancer metastasis.
Tang L, Pang D, Wang C, Lin J, Chen S, Wu J, Cui J. Tang L, et al. Front Immunol. 2025 Jul 25;16:1630794. doi: 10.3389/fimmu.2025.1630794. eCollection 2025. Front Immunol. 2025. PMID: 40787466 Free PMC article.

RESULTS: Intersection analysis highlighted 52 overlapping DEGs, of which SCNN1A and EFNA1 emerged as the top prognostic indicators. Both genes were significantly upregulated in tumor tissues, metastatic foci, and plasma exosomes (P < 0.01). ...Single-cell subcluster ana

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RESULTS: Intersection analysis highlighted 52 overlapping DEGs, of which SCNN1A and EFNA1 emerged as the top prognostic indicators. B …
NDUFS1 upregulates ENaCalpha by NAD+ to promote alveolar fluid clearance in acute lung injury.
Wang M, Chen M, Zhu J, Zhang Y, Lu J, Yue Z, Yang Z, Wang R. Wang M, et al. Int J Med Sci. 2025 Jul 28;22(13):3477-3489. doi: 10.7150/ijms.112248. eCollection 2025. Int J Med Sci. 2025. PMID: 40860777 Free PMC article.
NDUFS1 deficiency in alveolar epithelial cells reduced ENaCalpha expression, which impaired alveolar fluid clearance (AFC) and led to alveolar edema. ...In summary, our study suggests that NDUFS1 promotes AFC by regulating ENaCalpha via NAD+ in pulmonary epithelial …
NDUFS1 deficiency in alveolar epithelial cells reduced ENaCalpha expression, which impaired alveolar fluid clearance (AFC) and led to …
Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel SCNN1A mutation.
Chen M, Lv X, Li J, Guo M, Ma S. Chen M, et al. Scand J Clin Lab Invest. 2022 Nov-Dec;82(7-8):576-580. doi: 10.1080/00365513.2022.2140454. Epub 2022 Nov 6. Scand J Clin Lab Invest. 2022. PMID: 36336351
Genetic analysis revealed that the proband carried a compound heterozygous mutation in SCNN1A, a novel heterozygous mutation, c.1130T > G (p.Ile377Ser) and a previously characterized polymorphism, c.1987A > G (p.Thr633Ala). ...The novel mutation c.1130T > G of the …
Genetic analysis revealed that the proband carried a compound heterozygous mutation in SCNN1A, a novel heterozygous mutation, c.1130T …
Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis.
Gao F, Wang D, Liu X, Wu YH, Wang HT, Sun SL. Gao F, et al. Arch Biochem Biophys. 2022 Sep 30;727:109323. doi: 10.1016/j.abb.2022.109323. Epub 2022 Jun 14. Arch Biochem Biophys. 2022. PMID: 35714697
This study reported the alteration of Sodium channel 1 subunit alpha (SCNN1A) expression, its prognostic significance and biological roles in pancreatic cancer. ...SCNN1A possessed oncogenic function and its dysregulation could be implicated in the development and m …
This study reported the alteration of Sodium channel 1 subunit alpha (SCNN1A) expression, its prognostic significance and biological …
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A, Gautschi I, van Bemmelen MX, Sertedaki A, Giannakopoulos A, Chrousos G, Schild L, Chrysis D. Efthymiadou A, et al. Am J Physiol Endocrinol Metab. 2023 Jul 1;325(1):E1-E9. doi: 10.1152/ajpendo.00332.2022. Epub 2023 May 3. Am J Physiol Endocrinol Metab. 2023. PMID: 37134141 Free article.
The protein expression of alpha-ENaC wt and mutants was determined by Western blot. All patients were homozygotes for the p.Phe226Cys mutation of the alpha subunit of ENaC. ...Functional studies explain the phenotype and denote the importance of the location on the …
The protein expression of alpha-ENaC wt and mutants was determined by Western blot. All patients were homozygotes for the p.Ph …
Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review.
Tian J, Xiang F, Wang L, Wu X, Shao L, Ma L, Fang C. Tian J, et al. Kidney Blood Press Res. 2024;49(1):831-838. doi: 10.1159/000540522. Epub 2024 Sep 5. Kidney Blood Press Res. 2024. PMID: 39236685 Free article. Review.
The aetiology of Liddle syndrome is missense or frameshift mutations in the SCNN1A, SCNN1B, or SCNN1G genes, which encode for the epithelial sodium channel subunits. Among these, mutations in the SCNN1A gene are very rare. CASE PRESENTATION: A Liddle syndrome case c …
The aetiology of Liddle syndrome is missense or frameshift mutations in the SCNN1A, SCNN1B, or SCNN1G genes, which encode for the epi …
Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.
Chantzaras AP, Panagiotou P, Koltsida G, Moudaki A, Kanaka-Gantenbein C, Kaditis AG. Chantzaras AP, et al. Paediatr Respir Rev. 2025 Jun;54:52-61. doi: 10.1016/j.prrv.2024.09.001. Epub 2024 Sep 12. Paediatr Respir Rev. 2025. PMID: 39419738
In 36/47 patients the underlying pathogenic variant was identified in SCNN1A gene. CONCLUSION: High clinical suspicion is required when treating patients with PHA1B for the potential need for early treatment of respiratory symptoms to avert any permanent pulmonary damage.. …
In 36/47 patients the underlying pathogenic variant was identified in SCNN1A gene. CONCLUSION: High clinical suspicion is required wh …
SCNN1A expression in triple-negative breast cancer: clinical implications for prognosis and neoadjuvant therapy response.
Jin X, Ge Y, Sun T, Ma Y, Zhao Y, Xie Q, Yin F, Zhang L, Qian J. Jin X, et al. World J Surg Oncol. 2025 Apr 26;23(1):169. doi: 10.1186/s12957-025-03698-1. World J Surg Oncol. 2025. PMID: 40287704 Free PMC article.
RESULTS: Eleven core genes, including SCNN1A, were identified from 912 differential genes. High SCNN1A expression was associated with poor prognosis in TNBC patients via online database analysis. ...High SCNN1A expression was significantly more frequent in no …
RESULTS: Eleven core genes, including SCNN1A, were identified from 912 differential genes. High SCNN1A expression was associat …
Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.
Saffari F, Bahadoran E, Homaei A, Moghbelinejad S. Saffari F, et al. J Pediatr Endocrinol Metab. 2024 Jul 5;37(8):745-749. doi: 10.1515/jpem-2023-0505. Print 2024 Aug 27. J Pediatr Endocrinol Metab. 2024. PMID: 38963175
The patient had electrolyte imbalances. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, NM_001038.6:c.1497G>C, with an autosomal recessive pattern, was identified by whole exosome sequencing. ...This case report presents a patient with a novel mu …
The patient had electrolyte imbalances. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, NM_001038.6:c.1497G&g …
Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function.
Blobner BM, Kirabo A, Kashlan OB, Sheng S, Arnett DK, Becker LC, Boerwinkle E, Carlson JC, Gao Y, Gibbs RA, He J, Irvin MR, Kardia SLR, Kelly TN, Kooperberg C, McGarvey ST, Menon VK, Montasser ME, Naseri T, Redline S, Reiner AP, Reupena MS, Smith JA, Sun X, Vaidya D, Viaud-Martinez KA, Weeks DE, Yanek LR, Zhu X; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium*; Minster RL, Kleyman TR. Blobner BM, et al. Hypertension. 2022 Nov;79(11):2573-2582. doi: 10.1161/HYPERTENSIONAHA.121.18513. Epub 2022 Oct 4. Hypertension. 2022. PMID: 36193739 Free PMC article.
BACKGROUND: The epithelial Na(+) channel (ENaC) is intrinsically linked to fluid volume homeostasis and blood pressure. Specific rare mutations in SCNN1A, SCNN1B, and SCNN1G, genes encoding the alpha, beta, and gamma subunits of ENaC, respectively, are associated with extr …
BACKGROUND: The epithelial Na(+) channel (ENaC) is intrinsically linked to fluid volume homeostasis and blood pressure. Specific rare mutati …
20 results