Ask about this productRelated genes to: SCNN1A antibody
- Gene:
- SCNN1A NIH gene
- Name:
- sodium channel epithelial 1 alpha subunit
- Previous symbol:
- SCNN1
- Synonyms:
- ENaCalpha
- Chromosome:
- 12p13
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-12
- Date modifiied:
- 2018-03-02
Related products to: SCNN1A antibody
Related articles to: SCNN1A antibody
- Structural variation (SV) is a major yet underappreciated source of genomic diversity that drives parasite adaptation. We generated the first comprehensive SV map of from 72 genomes across six endemic Asian regions, identifying 12,632 high-confidence SVs spanning 3.55% of the genome that delineate population structure and adaptive trajectories. SVs are non-randomly distributed and preferentially affect regulatory regions rather than coding sequences. Geographic isolation, demography, and positive selection collectively shape the SV landscape. Convergent deletions in , a sodium channel gene, occur in Southeast Asian populations under long-term praziquantel (PZQ) exposure and may alter its active pocket and transport activity. Taiwan-specific SVs in , , and are linked to reproductive adaptation and reduced pathogenicity. Expression assays confirm stage- and sex-specific regulation of these genes under PZQ treatment. These findings establish SVs as key drivers of drug response and host adaptation in , offering insights for precision surveillance and next-generation anthelmintic design. - Source: PubMed
Publication date: 2026/05/27
Liu QiYang KeZhang WeiXu ShuhuaHu WeiLu Yan - The vaginal microbiome significantly influences gynecological and obstetric health, yet the interrelationship between host vaginal gene expression and the microbiota during pregnancy is understudied-particularly in racioethnically diverse cohorts. Here, we leveraged metatranscriptomic data from 123 participants from the Multi-Omic Microbiome Study-Pregnancy Initiative (MOMS-PI) cohort to perform a novel integrated analysis of human host gene expression and vaginal microbiota composition during pregnancy. We hypothesized that host gene expression at the vaginal-mucosal interface would exhibit distinct transcriptional profiles when colonized by bacteria commonly present in bacterial vaginosis (BV), termed BV-associated vagitypes, compared to -dominated microbiomes. Such distinct host response would provide evidence linking vaginal inflammation to microbiome composition during pregnancy in a majority Black cohort. By profiling host expression with different BV-associated vagitypes, these host-microbiome signatures could inform clinically actionable biomarkers for microbiome-focused interventions during pregnancy in historically underrepresented populations. Host transcriptomic profiles differed significantly between BV-associated and -dominated vagitypes, with this association remaining significant when analyses were restricted to Black participants. We identified 13 consistently differentially expressed genes in women with BV-associated vagitypes-vaginal microbiomes comprised of high relative abundance of either spp., Lachnocurva vaginae, or a mixture of multiple anaerobic taxa-compared to women with vagitypes. These differentially expressed genes are involved in host immune response ( ), oxidative stress response and inflammasome activation ( ), transcription modulation ( ), vesicle trafficking ( ), ubiquitination ( ), membrane integrity ( ), and ion transport ( ). BV-associated vagitypes are correlated with distinct host immunomodulatory gene expression profiles during pregnancy, independent of self-reported racioethnicity. We demonstrated novel molecular insights into microbiome-host interaction during pregnancy within the context of adverse cervicovaginal health. - Source: PubMed
Publication date: 2026/05/25
Cunningham Mallory EWilliams Megan TSpaine Katherine MMarcinkowska AnnamariaMatveyev Andrey VHur Brian JNatterer Heather OChatterjee Rhea BOldfield Christopher JEdupuganti LaahirieZhu BinJefferson Kimberly KIii Jerome F StraussOlex Amy LSerrano Myrna GBuck Gregory A - A high-salt extracellular environment promotes fibrosis in multiple organs by inducing oxidative stress, fibroblast activation, and extracellular matrix remodeling. In the lung, sodium accumulation may result from impaired epithelial ion transport. Transforming growth factor-β1 (TGF-β1), a key profibrotic cytokine, downregulates epithelial sodium and chloride channels, promoting sodium retention and fibrotic remodeling. This study investigated whether antifibrotic drugs can prevent TGF-β1-induced suppression of sodium channel expression in the lung epithelium. - Source: PubMed
Publication date: 2026/04/29
Ito ToshiyukiFujimoto HajimeToda MasaakiFridman D'Alessandro ValeriaD'Alessandro-Gabazza Corina NKogue YurieTsuruga TatsukiOkano TomohitoFuruhashi KazukiSaiki HarukoTomaru AtsushiGabazza Esteban CYasuma TaroKobayashi Tetsu - Pseudohypoaldosteronism (PHA) is a rare disorder characterized by renal resistance to mineralocorticoids, leading to hyperkalemia, hyponatremia, and metabolic acidosis. It is primarily classified into type I (PHAI), with subtypes including renal (caused by mutation), systemic (caused by mutations), and secondary forms, and type II (PHAII), which is commonly associated with mutations in genes involved in the WNK signaling pathway (). However, comprehensive cohorts delineating the clinical and genetic spectrum of PHA in Chinese children are lacking. - Source: PubMed
Publication date: 2026/02/26
Wu ZiyingLi JunzanSheng HuiyingLi XiuzhenHuang ZienLiang CuiliMei HuifenLin YuntingLi TaolinZhang WenXu Aijing - Aldosterone synthase deficiency (ASD), which is caused by a genetic defect in CYP11B2, involves a deficiency in aldosterone alone. Newborn and early childhood ASD patients can present with salt-wasting symptoms. In severe cases, this can lead to shock and be life-threatening. ASD must also be differentiated from another disease, pseudohypoaldosteronism type 1 (PHA1), which involves resistance to aldosterone. PHA1 can be classified into PHA1a, PHA1b, and secondary PHA1. PHA1a is caused by a heterozygous defect in NR3C2, which encodes the mineralocorticoid receptor. PHA1b is an autosomal recessive disorder caused by defects in the 3 epithelial sodium channel subunits α, β, and γ, encoded by SCNN1A, SCNN1B, and SCNN1G. Since ASD is a very rare disorder, the "The Intractable Adrenal Disorders Research by the Ministry of Health, Labour, and Welfare" developed the "Diagnostic criteria and severity classification for aldosterone synthase deficiency" to better understand the disorder. The criteria are as follows: Clinical symptoms: patient meets criteria 1 and 2. 1) Presents with salt-wasting symptoms (poor feeding, vomiting, dehydration, poor weight gain). 2) No skin pigmentation. Laboratory findings: patient meets criteria 1 through 3. 1) Low serum sodium and high serum potassium. 2) Low to normal plasma aldosterone and high plasma renin activity or high plasma active renin concentration. 3) No low blood cortisol level. Diagnoses of exclusion include PHA1, 21-hydroxylase deficiency, congenital lipoid adrenal hyperplasia, and congenital adrenal hypoplasia. We believe that the diagnostic criteria of ASD will enable clinicians and researchers to better understand congenital aldosterone deficiency. - Source: PubMed
Publication date: 2026/03/27
Tajima ToshihiroAmano NaokoIshii TomohiroOtuski MichioKatabami TakuyukiKashimada KenichiHasegawa TomonobuMukai TokuoYoshida YuichiShibata Hirotaka