KCNH8 Antibody - C-terminal region (ARP35411_P050)
- Known as:
- KCNH8 Antibody - C-terminal region (ARP35411_P050)
- Catalog number:
- arp35411_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- KCNH8 Antibody - C-terminal region (ARP35411_P050)
Related genes to: KCNH8 Antibody - C-terminal region (ARP35411_P050)
- Gene:
- KCNH8 NIH gene
- Name:
- potassium voltage-gated channel subfamily H member 8
- Previous symbol:
- -
- Synonyms:
- Kv12.1, elk3
- Chromosome:
- 3p24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-07-10
- Date modifiied:
- 2016-02-04
Related products to: KCNH8 Antibody - C-terminal region (ARP35411_P050)
Related articles to: KCNH8 Antibody - C-terminal region (ARP35411_P050)
- The Body Mass Index (BMI), integrating body weight and length, is a widely used metric for obesity assessment in humans. As pigs serve as crucial biomedical models, the application of BMI in swine and its genetic basis remain poorly explored. This study aimed to investigate the genetic architecture of pig BMI and compare two carcass-based BMI metrics (BMI-S and BMI-O) for breeding applicability. A total of 439 Landrace × Yorkshire crossbred pigs were genotyped with a 50 K SNP chip; heritability was estimated via a mixed linear model, and genome-wide association study (GWAS) was performed using the BLINK model. BMI-S and BMI-O exhibited moderate-to-high heritability of 0.55 and 0.47, respectively, with 17 genome-wide significant SNPs detected-including the top associated SNP on chromosome 4 and on chromosome 7. Key candidate genes (, , , ) and 5 SNP-trait associations validated in PigQTLdb were linked to lipid/energy metabolism and muscle development. Carcass-based BMI improved phenotypic accuracy, and our findings provide core genetic markers and a theoretical basis for molecular breeding of pig body conformation and lipid deposition traits. - Source: PubMed
Publication date: 2026/01/14
Jin LongBai ChunyanChen JinghanFeng ChengyueDong FengyiZhang XiaoranFei JunwenHe YuLiu WuyangChen ChangyiSun BoxingWang DaliSun Hao - Historical and archaeological records indicate that the Maritime and Land Silk Roads played a pivotal role in facilitating Trans-Eurasian migrations and cultural exchanges. However, the extent to which population movements or the spread of ideas shape Chinese Hui populations remains debated. We present the largest genomic resource to date, including 2,280 Hui individuals sequenced or genotyped from 30 diverse regions, to examine the genetic origins, population structure, and biological adaptations of this underrepresented group in global human genome research. We identified a detailed population structure characterized by five distinct genetic lineages of the Hui, influenced by geography and varying gene flow. The admixture history and demographic events suggest that the northwestern and northern Hui lineages emerged from demic diffusion during the Tang and Yuan Dynasties via the Land Silk Road. In contrast, the southern and island Hui lineages reflect cultural diffusion along the Maritime Silk Road, while the mixed southern-northern lineage likely developed through a combination of demic and cultural diffusion. Our findings support a hybrid model for Hui formation, indicating that both demographic processes and sociocultural transmissions contributed to their population history. We identified east-west highly differentiated variants and pre- and post-admixture adaptations in Hui genomes, demonstrating that admixture-driven adaptive or neutral variants impacted susceptibility to cardiovascular diseases and immune- and diet-related traits. These adaptive signatures include post-admixture signals of SLC24A5 and ECHDC1 in the Hui, as well as pre-admixture signals of the HLA region, BCL2A1, and KCNH8 in the East Asian source. Overall, our study suggests that Han-related genetic components helped the Hui population rapidly adapt to new local environments. Additionally, the frequency spectrum of clinically essential variants differed significantly between Hui and Han individuals, emphasizing the importance of including underrepresented populations in genomic research to promote health equity. - Source: PubMed
He GuanglinChen JingDuan ShuhanYang QingxinLi BowenLuo LintaoZhong JieSun QiuxiaBu FengxiaoTang RenkuanLu Hongliang Yuan HaibingYuan HuijunLiu ChaoWang Mengge - Tumor microenvironent contains prognostic molecular markers and therapeutic targets from different cellular sources, which are still not fully revealed in the resistance and recurrence after radiotherapy for rectal cancer. By integrating the scRNA-seq data, we deconvoluted the bulk transcriptomics of rectal cancer collected before preoperative neoadjuvant radiotherapy (nRT) into fractions and gene expression of the six cell types. The inferred cell-type-associated DEGs, abbreviated as caDEGs, of myeloid and stromal cells were enriched for overlapping yet unique biological processes including immunity, angiogenesis, and metabolism, respectively. Ecotyper analysis indicates that the caDEGs reflects cell states and ecotypes in association with nRT response. By mapping the caDEGs onto the context-free and newly built ligand-receptor and collagen-integrin lists from scRNA-Seq data, respectively, we inferred 297 cell-type-specific trans- and/or cis-collagen-integrin and 219 heterotypic ligand-receptor interactions potentially associated with nRT response, including interactions between stromal-associated COL1A2/COL6A1/COL6A2 and stromal or CMS1-associated ITGA1/B1, between epithelial-associated JAG1 and stromal-associated NOTCHs, between CMS2 epithelial-associated CCL15 and proliferating myeloid-associated CCR1, between myeloid-associated CCL4/CD86 and lymphatic endothelial-associated ACKR2, and between myeloid-associated TNFS13B and B cell-associated TNFRSF13B/C, etc. Intriguingly, results suggest a greater number of down-regulated cell-type-related markers in resistant cancers to nRT. Favorable myeloid-associated CD14, epithelial-associated DYM, stromal-associated COL1A2 and COL3A1, and unfavorable epithelial-associated CELSR3 and KCNH8 markers were inferred at least from two independent nCRT datasets of GSE119409, GSE35452, and GSE45404. The results provide insights into roles of the stromal and immune cells beside epithelial cells in resistance to radiotherapy for rectal cancers. The proposed approach can be applicable to other diseases as well. Codes and additional data are available at https://github.com/Xueling21/rectalNRT_deconv. - Source: PubMed
Publication date: 2024/10/29
Zhu MinSun XiaoFang JinmanLi Xueling - Progressive myoclonus epilepsy (PME) is a neurodegenerative disorder marked by recurrent seizures and progressive myoclonus. To date, based on the phenotypes and causal genes, more than 40 subtypes of PMEs have been identified, and more remain to be characterized. Our study is aimed at identifying the aberrant gene(s) possibly associated with PMEs in two siblings born to asymptomatic parents, in the absence of known genetic mutations. Clinical assessments and molecular analyses, such as the repeat expansion test for ; SCA1, 2, 3, 6, and 7; whole exome sequencing (WES); and mitochondrial genome sequencing coupled with computational analysis, were performed. A family-based segregation analysis of WES data was performed to identify novel genes associated with PMEs. The potassium channel, [c.298T>C; (p.Tyr100His)], a DNA repair gene, regulator of telomere elongation helicase 1 () [c.691G>T; (p.Asp231Tyr)] and long noncoding RNA, [chr20:62298898_G>T; NR_037882.1, hg19] were among the candidate genes that were found to be associated with PMEs. These homozygous variations in siblings belong to genes with a loss-of-function intolerant (pLI) score of ≤ 0.86, expected to be detrimental by multiple computational analyses, and were heterozygous in parents. Additionally, computational analysis and the expression of and revealed that may modulate via hsa-miR-3529-3p. In the patient with the severe phenotype, a further deleterious mutation in was identified. No de novo variants specific to these probands were identified in the mitochondrial genome. Our study is the first to report variants in , , and among PME cases. These genes when characterized fully may shed light on pathogenicity and have the potential to be used in the diagnosis of PME. - Source: PubMed
Publication date: 2024/08/10
Chaudhari SimaAcharya Lavanya PrakashJasti Dushyanth BabuWare Akshay PramodGorthi Sankar PrasadSatyamoorthy Kapaettu - Improving ewe longevity is an important breeding and management goal, as death loss and early culling of mature ewes are economic burdens in the sheep industry. Ewe longevity can be improved by selecting for positive reproductive outcomes. However, the breeding approaches for accomplishing this come with the challenge of recording a lifetime trait. Characterizing genetic factors underpinning ewe longevity and related traits could result in the development of genomic selection strategies to improve the stayability of sheep through early, informed selection of replacement ewes. Towards this aim, a genome-wide association study (GWAS) was performed to identify genetic markers associated with ewe longevity, reproductive, and production traits. Traits evaluated included longevity (i.e., length of time in the flock), parity and the lifetime number of lambs born, lambs born alive, lambs weaned, and weight of lambs weaned. Ewe records from previous studies were used. Specifically, Rambouillet (n = 480), Polypay (n = 404), Suffolk (n = 182), and Columbia (n = 64) breed ewes (N = 1,130) were analyzed against 503,617 SNPs in across-breed and within-breed GWAS conducted with the Bayesian-information and Linkage-disequilibrium Iteratively Nested Keyway (BLINK) model in R. The across-breed GWAS identified 25 significant SNPs and the within-breed GWAS for Rambouillet, Polypay, and Suffolk ewes identified an additional 19 significant SNPs. The most significant markers were rs411309094 (13:22,467,143) associated with longevity in across-breed GWAS (-value = 8.3E-13) and rs429525276 (2:148,398,336) associated with both longevity (-value = 6.4E-15) and parity (-value = 4.8E-15) in Rambouillet GWAS. Significant SNPs were identified within or in proximity (±50 kb) of genes with known or proposed roles in reproduction, dentition, and the immune system. These genes include and . This study proposes multiple SNPs as candidates for use in selection indices and suggests genes for further research towards improving understanding of the genetic factors contributing to longevity, reproductive, and production traits of ewes. - Source: PubMed
Publication date: 2024/05/27
Smitchger Jamin ATaylor J BretMousel Michelle RSchaub DanielThorne Jacob WBecker Gabrielle MMurdoch Brenda M