Ask about this productRelated genes to: CHRNA4 antibody
- Gene:
- CHRNA4 NIH gene
- Name:
- cholinergic receptor nicotinic alpha 4 subunit
- Previous symbol:
- EBN, EBN1
- Synonyms:
- BFNC
- Chromosome:
- 20q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 1990-05-11
- Date modifiied:
- 2016-02-04
Related products to: CHRNA4 antibody
Related articles to: CHRNA4 antibody
- Alzheimer's disease and related dementias (ADRD) and Parkinson's disease and related disorders (PDRD) have substantial genetic contributions, yet the role of rare damaging coding variants remains incompletely characterized at population scale. We performed gene-based burden testing of rare loss-of-function and deleterious missense variants using whole-genome sequencing data from large population biobanks combined with disease-specific sequencing cohorts, leveraging proxy phenotypes to maximize statistical power for late-onset neurodegenerative diseases. We confirmed rare variant burden in established ADRD genes () and PDRD genes (). We additionally identified novel associations in ADRD () and PDRD (). The strongest signal was observed for , where damaging variants clustered within domains mediating interactions with Rab GTPases and retromer components. Our results demonstrate the power of population-scale sequencing combined with proxy phenotypes to identify rare coding risk genes for neurodegenerative diseases. - Source: PubMed
Publication date: 2026/03/04
Le Guen YannPeña-Tauber AndrésPulgrossi Rafael CatoiaPark JunyoungOrias HoldenGreicius Michael D - Evidence suggests that prenatal exposure to antiseizure medications (ASMs) may be associated with an increased risk of autism spectrum disorder (ASD) in offspring. However, the risks attributable to specific ASMs and the underlying biological mechanisms remain incompletely characterized. - Source: PubMed
Publication date: 2026/02/17
Meng QiuxiaoXie JiahanYang LiYu KefuZhu BinLi CaoZhao ZhigangHuo Jiping - Fibroblast growth factor 21 (FGF21) is a key hormone for metabolic homeostasis under conditions such as obesity, aging and diabetes. While extensively studied in males, its role in female physiology remains poorly defined. This study evaluated the effects of hepatic FGF21 deletion in 12-month-old female mice using a liver-specific FGF21 knockout (FKO) model. FKO females exhibited reduced body weight and improved glucose tolerance, with no changes in circulating FGF21 levels. In the liver, RT-qPCR analysis showed that the expression of genes involved in de novo lipogenesis, including , , and , was downregulated, whereas markers of fatty acid uptake () and β-oxidation () were upregulated without alterations in hepatic triglyceride content and lower levels of serum adiponectin. Remarkably, telomere length in both liver and adipose tissue was preserved, indicating improved cellular aging. Hepatic transcriptomic analysis revealed a global downregulation of genes linked to cytoskeletal organization, immune processes and fibrosis. Among these, , a hepatocyte-specific nicotinic acetylcholine receptor subunit implicated in protection against metabolic-associated steatohepatitis (MASH), was significantly reduced. These findings suggest that hepatic FGF21 deficiency in aged female mice promotes metabolic health by limiting pro-inflammatory and fibrotic pathways and preserving telomere integrity, with emerging as a potential mediator. - Source: PubMed
Publication date: 2025/12/24
Torres-Oteros DanielNicola-Llorente MarianoSanz-Lamora HéctorPérez-Martí AlbertMarrero Pedro FCanudas SilviaHaro DiegoRelat Joana - This study investigates the regulatory role of microRNAs (miRNAs) in suppressing the overexpression of genes associated with Attention-Deficit Hyperactivity Disorder (ADHD), a genetically influenced neurodevelopmental disorder. A computational framework based on the 7mer-m8 seed match model was used to predict miRNA interactions with nine upregulated genes, aiming to identify miRNAs capable of binding to their coding sequences (CDS) and regulating gene expression. - Source: PubMed
Publication date: 2025/12/12
Roy BipashaBharadaj StellaBharadaj Srinjay KumarSharma DeepikaChakraborty Supriyo - Ten to fifteen per cent of Sleep-Related-Hypermotor-Epilepsy (SHE) has genetic origin, mainly related to pathogenic variants of genes coding for nicotinic cholinergic receptor (nAChR) system. We reported a subject with SHE due to CHRNA4 mutation, successfully treated with Nicotine. We also provided a systematic review on the use of Nicotine as an anti-seizure-medication and sleep regulator in SHE due to nAChR genes mutation. - Source: PubMed
Publication date: 2025/10/30
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