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2022 5
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Aberrant inactivation of SCNN1G promotes the motility of head and neck squamous cell carcinoma.
Yang Y, Zhong X, Lan Y, Liang P, Huang Y, Wang Y, Zhou X, Zhang Z, Liang Y, Xiao X. Yang Y, et al. Pathol Res Pract. 2022 Dec;240:154175. doi: 10.1016/j.prp.2022.154175. Epub 2022 Oct 18. Pathol Res Pract. 2022. PMID: 36327816
Ectopic overexpressing SCNN1G inhibited the invasive and migratory abilities of HNSCC cells, while knocking down SCNN1G showed an opposite effect. A positive correlation between SCNN1G and CDH1 expression was observed, which suggested that SCNN1G might …
Ectopic overexpressing SCNN1G inhibited the invasive and migratory abilities of HNSCC cells, while knocking down SCNN1G showed …
Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome.
Granhøj J, Nøhr TK, Hinrichs GR, Rasmussen M, Svenningsen P. Granhøj J, et al. Clin J Am Soc Nephrol. 2024 May 1;19(5):610-619. doi: 10.2215/CJN.0000000000000430. Epub 2024 Jan 24. Clin J Am Soc Nephrol. 2024. PMID: 38265765 Free PMC article.
RESULTS: The Liddle syndrome variants localized to exon 13 of SCNN1B and SCNN1G , disrupting the PPPxY motif critical for downregulating ENaC activity. Hypertension sensitive to ENaC inhibition was present in 97% of adults carrying Liddle syndrome variants while hypokalemi …
RESULTS: The Liddle syndrome variants localized to exon 13 of SCNN1B and SCNN1G , disrupting the PPPxY motif critical for downregulat …
Altered placental ion channel gene expression in preeclamptic high-altitude pregnancies.
Julian CG, Houck JA, Fallahi S, Lazo-Vega L, Matarazzo CJ, Diamond B, Miranda-Garrido V, Krause BJ, Moore LG, Shortt JA, Toledo-Jaldin L, Lorca RA. Julian CG, et al. Physiol Genomics. 2023 Sep 1;55(9):357-367. doi: 10.1152/physiolgenomics.00013.2023. Epub 2023 Jul 17. Physiol Genomics. 2023. PMID: 37458464 Free PMC article.
In preeclamptic placentas, 11 genes were downregulated (ABCC9, ATP2A2, CACNA1C, KCNE1, KCNJ8, KCNK3, KCNMA1, KCNQ1, KCNQ4, PKD2, and TRPV6) and two were upregulated (KCNQ3 and SCNN1G). KCNE1 expression was positively correlated with high-altitude Amerindian ancestry and ne …
In preeclamptic placentas, 11 genes were downregulated (ABCC9, ATP2A2, CACNA1C, KCNE1, KCNJ8, KCNK3, KCNMA1, KCNQ1, KCNQ4, PKD2, and TRPV6) …
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.
We investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and transient form of pseudohypoaldosteronism type 1 (PHA1). Twelve patients with PHA1 from four different families with clinical and …
We investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and tran …
Liddle syndrome misdiagnosed as primary aldosteronism is caused by inaccurate aldosterone-rennin detection while a novel SCNN1G mutation is discovered.
Yang Y, Wu C, Qu D, Xu X, Chen L, Sun Q, Zhao X. Yang Y, et al. Blood Press. 2022 Dec;31(1):139-145. doi: 10.1080/08037051.2022.2088471. Blood Press. 2022. PMID: 35723567 Free article.
However, treatment with a standard dose of spironolactone has no blood pressure improvement effect. A heterozygous variant of SCNN1G was found with whole exome sequencing and Liddle syndrome is indicated. Treatment with amiloride was effective. ...A Gene test is an importa …
However, treatment with a standard dose of spironolactone has no blood pressure improvement effect. A heterozygous variant of SCNN1G …
Liddle syndrome with a SCNN1B mutation: a case report and systematic review.
Tang Q, Zhou Y, Liu L, Chen M, Liu L, Wang Y, Zhou G, Xie M. Tang Q, et al. BMC Nephrol. 2025 Jul 21;26(1):408. doi: 10.1186/s12882-025-04252-7. BMC Nephrol. 2025. PMID: 40696293 Free PMC article.
INTRODUCTION: Liddle syndrome is an autosomal dominant disorder caused by pathogenic gain-of-function variants in genes encoding epithelial sodium channel subunits, including alpha (SCNN1A), beta (SCNN1B), and gamma (SCNN1G). Among these, SCNN1B variants are most prevalent …
INTRODUCTION: Liddle syndrome is an autosomal dominant disorder caused by pathogenic gain-of-function variants in genes encoding epithelial …
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. ...
The aetiology of Liddle syndrome is missense or frameshift mutations in the SCNN1A, SCNN1B, or SCNN1G genes, which encode for the epi …
Classification of pseudohypoaldosteronism type II as type IV renal tubular acidosis: results of a literature review.
Adachi M, Motegi S, Nagahara K, Ochi A, Toyoda J, Mizuno K. Adachi M, et al. Endocr J. 2023 Jul 28;70(7):723-729. doi: 10.1507/endocrj.EJ22-0607. Epub 2023 May 19. Endocr J. 2023. PMID: 37081692 Free article. Review.
Pseudohypoaldosteronism (PHA) type II (PHA2) is a genetic disorder that leads to volume overload and hyperkalemic metabolic acidosis. PHA2 and PHA type I (PHA1) have been considered to be genetic and pediatric counterparts to type IV renal tubular acidosis (RTA). Type IV R …
Pseudohypoaldosteronism (PHA) type II (PHA2) is a genetic disorder that leads to volume overload and hyperkalemic metabolic acidosis. PHA2 a …
Functional properties of the gamma-ENaC-A635V mutation in a patient with severe hyponatremia.
Antoniadi M, Bohnet M, Kellenberger S, Vitoratou DI, Fafoula O, Mylona F, Kostaridou S, Palaiologou D, Taliou A, Stratakis CA. Antoniadi M, et al. Hormones (Athens). 2025 Jun;24(2):581-587. doi: 10.1007/s42000-025-00637-3. Epub 2025 Mar 28. Hormones (Athens). 2025. PMID: 40153144
RESULTS: Deep analysis of the WES data revealed a second variant of unknown significance in the SCNN1G gene affecting the gamma-ENaC subunit, namely NM_001039.4.1904 C > T (p.Ala635Val), which was previously unreported in association with a clinical …
RESULTS: Deep analysis of the WES data revealed a second variant of unknown significance in the SCNN1G gene affecting the gamma …
Differential expression of ion channel coding genes in the endometrium of women experiencing recurrent implantation failures.
Davoodi Nik B, Hashemi Karoii D, Favaedi R, Ramazanali F, Jahangiri M, Movaghar B, Shahhoseini M. Davoodi Nik B, et al. Sci Rep. 2024 Aug 27;14(1):19822. doi: 10.1038/s41598-024-70778-9. Sci Rep. 2024. PMID: 39192025 Free PMC article.
This led to the discovery of significant alterations in the expression of ion channel genes in RIF women's endometrium, most notably an overexpression of CFTR and reduced expression of SCNN1A, SCNN1B, SCNN1G, CACNA1H, and KCNQ1. A higher DNA methylation level of KCNQ1's re …
This led to the discovery of significant alterations in the expression of ion channel genes in RIF women's endometrium, most notably an over …
20 results