Ask about this productRelated genes to: KCND3 Blocking Peptide
- Gene:
- KCND3 NIH gene
- Name:
- potassium voltage-gated channel subfamily D member 3
- Previous symbol:
- SCA22, SCA19
- Synonyms:
- Kv4.3, KSHIVB
- Chromosome:
- 1p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-10-05
- Date modifiied:
- 2019-04-23
Related products to: KCND3 Blocking Peptide
Related articles to: KCND3 Blocking Peptide
- Growth and egg production are the two most economically important traits in goose production systems. However, negative genetic correlations between these traits make it difficult to achieve balanced genetic improvement through selection. In this study, we analyzed whole-genome resequencing data from 1033 Zhedong White Geese to identify genetic variants related to birth weight (BW), body weight at 90 days (BW90), and egg number at 66 weeks of age (EN66). Single-trait genome-wide association studies (GWASs) identified 6, 5, and 5 lead SNPs significantly associated with BW, BW90, and EN66, respectively. By integrating network analysis, PLACO, and multivariate linear mixed models (mvLMMs), we further identified and as potential pleiotropic candidate genes influencing both growth and egg production. Notably, the variant at CHR25: 6006715, located within an intronic region of , was associated with increased BW (ZscoreBW = 4.44) and decreased EN66 (ZscoreEN66 = -3.55), showing strong pleiotropic significance (P_PLACO = 4.88 × 10). Collectively, these findings provide new insights into the genetic architecture underlying the antagonistic relationship between growth and egg production in geese and offer valuable genetic targets for developing breeding strategies that jointly optimize growth performance and reproductive efficiency. - Source: PubMed
Publication date: 2026/04/01
Zhou WeiPan JianhongZhou ShihengYang JingjingWang LinfangLi PanZhang ChunyuanJiang ZhihaoWu PanxueRen JindongLi RongyangLu LizhiChen LiZhang Zhenyang - : Cardiac arrhythmias are among the leading causes of sudden cardiac death (SCD). Pathogenic variants in potassium channel genes play a key role in inherited arrhythmia syndromes, yet their contribution in Central Asian populations remains poorly characterized. : We performed targeted next-generation sequencing (NGS) using a 96-gene custom Haloplex panel in 79 Kazakhstani patients with clinically diagnosed arrhythmias, including atrioventricular block, sick sinus syndrome, and atrial fibrillation. Detected variants in potassium channel genes were classified according to ACMG guidelines and correlated with clinical phenotypes. : A total of 52 variants were identified across 11 potassium channel genes. Two likely pathogenic variants ( p.Cys66Gly and p.Arg176Trp) and six variants of uncertain significance (VUS) in , , , and were detected. Two novel previously unreported variants were found in and Patients harboring pathogenic variants commonly presented with early-onset arrhythmias or a positive family history of cardiovascular disease. Carriers of variants exhibited mild QT prolongation and recurrent syncope. : This is the first genetic study of potassium channel gene mutations in Kazakhstani patients with cardiac arrhythmias. The detection of pathogenic and novel variants highlights the clinical utility of integrating genetic testing into diagnostic and management pathways for arrhythmia syndromes. Population-specific genomic data are essential for improving risk stratification, guiding medication safety, and enabling cascade family screening in Central Asia. - Source: PubMed
Publication date: 2026/01/26
Chamoieva AyaulymRakhimova SauleAbilova ZhannurAkhmetova AinurAkilzhanova GulbanuZhalbinova MadinaDaniyarov AssetAkilzhanov KenesMolkenov AskhatKairov UlykbekKuanysheva AnargulShaimardanov NurlanAbdrakhmanov AyanBekbossynova MakhabbatAkilzhanova Ainur - Spinocerebellar ataxia types 19 and 22 (SCA19/22) are neurodegenerative disorders caused by mutations in KCND3 (potassium voltage-gated channel subfamily D member 3). Previous studies have developed Kcnd3 F227del knock-in (KI) mice that successfully recapitulate the motor deficits and molecular pathogenesis observed in patients. However, the broader neurobehavioral consequences of the humanized Kcnd3 F227del mutation, and whether these phenotypes depend on functional Kcnd3, remain unclear. In this study, we employed a battery of behavioral assessments and found that the Kcnd3 F227del mutation may not only result in a loss of function but also act as a dominant, toxic gain-of-function variant associated with both ataxia and memory impairments. In contrast, Kcnd3 null mice exhibited primarily hyperactivity without major cognitive deficits. Furthermore, we demonstrated that dietary restriction (DR) effectively attenuates memory deficits but does not improve locomotor impairments in Kcnd3 F227del KI mice at behavioral, cellular, and neurostructural levels. Specifically, DR preserved neuronal survival, maintained dendritic architecture and spine density, and reduced neuroinflammation in the hippocampus. These findings offer new insights into the etiology of SCA19/22-related symptoms and suggest that DR may serve as a potential therapeutic strategy targeting cognitive deficits in patients carrying the KCND3 F227del mutation. - Source: PubMed
Publication date: 2026/01/17
Ma Cheng-YunYeh Sheng-RongHuang Yi-HsuanLin Wei-ShengLee Yi-ChungTsai Ting-FenFan Shou-ZenWang Pei-Yu - Breast cancer is the most common cancer among women, and metastasis to the lung is associated with poor prognosis. Reliable biomarkers for predicting lung metastasis are urgently needed to improve early detection and clinical decision-making. This study used microarray data sets comprising gene expression profiles and clinical data from primary breast cancer patients who were followed up for lung metastasis outcomes. High-throughput screening combined with Venn diagram analysis was used to identify common candidate probes, and the least absolute shrinkage and selection operator method were used to select 11 genes for model development. Logistic regression was used to construct predictive models, and the final risk signature consisted of 10 candidate genes (CDK19, GLUD1, GTPBP4, HLCS, HYI, KCND3, MAP2K1, NMUR1, PRKD3, and SLC16A3). The model achieved strong performance in training and validation cohorts (areas under the curve >0.87) and generalized to the independent METABRIC data set (area under the curve = 0.706). Subset analyses restricted to patients with early-stage disease confirmed that the signature retained predictive value. Kaplan-Meier analyses showed that patients with high-risk scores had shorter lung metastasis-free survival, recurrence-free survival, and overall survival. Multivariate Cox analysis confirmed that the risk signature provided independent predictive information from clinical variables. In conclusion, the risk signature accurately identifies patients with breast cancer at risk of lung metastasis, enabling clinicians to better assess risk and tailor effective treatment strategies. - Source: PubMed
Publication date: 2025/11/27
Nguyen Thanh DatNguyen Quynh-Mai ThiNguyen Tuong VanBui Phuong ThiNguyen Kim Nhuong ThiNguyen Minh Nam - Sudden unexpected death in epilepsy (SUDEP) is one of the most frequent causes of death in patients with epilepsy, though the pathogenesis of SUDEP has not been well elucidated. Here, we report novel heterozygous KCND3 variants, p.V401L and p.V401M, identified in young patients with refractory epilepsy (RE) and neurodevelopmental disorders, and the functional properties of these variants. We aimed to investigate the electrophysiological changes in de novo KCND3 variants and analyse the pharmacological effects of quinidine on these variants. Chinese hamster ovary (CHO) cells were transiently co-transfected with wild-type (WT) and/or variant KCND3 and Kcnip2. Transient outward potassium currents (I) were recorded using the whole-cell patch-clamp method. The inhibitory effect of quinidine on I was evaluated. In electrophysiological analysis, CHO cells expressing the variant channels showed a significant increase in current density compared with those expressing WT channels. The I activation curves were shifted significantly to the left, and significantly slower inactivation time constants were observed in both variant channels. Recovery from inactivation of the variant channels was significantly slower than that of WT. Quinidine suppressed I in a concentration-dependent manner and accelerated the slow inactivation of variant channels. In conclusion, de novo KCND3 variants identified in patients with RE and neurodevelopmental disorders showed gain and loss of function effects on I. These patients may be at risk of developing early repolarization syndrome, leading to SUDEP. Increased I was suppressed by quinidine, suggesting that it may be an effective therapy for RE and possibly for preventing SUDEP. - Source: PubMed
Publication date: 2025/11/05
Tserenlkham ByambajavTakayama KoichiroZankov Dimitar PGallentine William BCuddapah Vishnu AnandCohen StaceySonoda KeikoHorie MinoruOhno Seiko