ADCK1 antibody
- Known as:
- ADCK1 (anti-)
- Catalog number:
- orb100264
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- ADCK1 antibody
Related genes to: ADCK1 antibody
- Gene:
- ADCK1 NIH gene
- Name:
- aarF domain containing kinase 1
- Previous symbol:
- -
- Synonyms:
- FLJ39600
- Chromosome:
- 14q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-07-21
- Date modifiied:
- 2015-10-15
Related products to: ADCK1 antibody
Related articles to: ADCK1 antibody
- : Understanding the genetic basis of food consumption is a key step toward precision nutrition, viewed as a long-term future perspective. This study aimed to investigate genetic variants associated with grapefruit () intake and to evaluate their potential relationship with obesity risk. : A genome-wide association study (GWAS) was conducted on 19,653 European-ancestry participants from two prospective cohorts, the Nurses' Health Study (NHS) and the Health Professionals Follow-Up Study (HPFS). We employed a functional annotation strategy to select a suggestive locus for follow-up analysis, and computationally derived molecular docking simulations explored a plausible functional link between grapefruit's bioactive compounds and the candidate gene product. : Although falling short of the conventional threshold for genome-wide significance, a suggestive locus was prioritized on chromosome 14, with the lead single nucleotide polymorphism (SNP), rs2124 ( < 5 × 10), located within the metabolic gene (aarF domain containing kinase 1). Molecular docking simulations supported a plausible mechanistic hypothesis, indicating that key bioactive compounds in grapefruit could bind with high affinity to the ADCK1 protein. Consistent with the GWAS finding, individuals with the CC genotype reported lower mean grapefruit intake. This genotype was also associated with other lifestyle factors, notably, lower physical activity in women. In age- and multivariate-adjusted models, the CC genotype was associated with a modestly increased risk of incident obesity in females, but not in males. : Our exploratory findings suggest a prioritized candidate locus associated with grapefruit intake, and its link to obesity risk may be mediated by the metabolic gene . However, given the lack of genome-wide significance and independent replication, these findings should be considered preliminary and exploratory. These hypothesis-generating results support the integration of genetics and dietary habits, warranting further mechanistic validation. - Source: PubMed
Publication date: 2026/04/22
Bae Ji HyunKang Hyunju - Primary renal small cell carcinoma (PRSCC) is a rare, poorly differentiated neuroendocrine carcinoma, and its clinicopathological features and the gene mutation spectrum associated with its pathogenesis remain to be elucidated. The present study aimed to characterize the genetic mutation spectrum associated with the pathogenesis of PRSCC, identify novel driver and predisposing genes for the disease, reveal its histopathological features associated with genetic mutations and systematically summarize the clinicopathologic characteristics and prognostic factors of PRSCC patients to provide a theoretical basis for molecularly targeted therapy and prognostic assessment of PRSCC. Whole-exome sequencing (WES) was performed on PRSCC samples to characterize the spectrum of genetic mutations and the results were validated using Sanger sequencing. Immunohistochemistry (IHC) was performed to reveal the histopathological features associated with these mutations. Furthermore, based on the published literature, a population-based study was conducted by searching PubMed and EMBASE databases to systematically summarize the clinicopathologic characteristics and prognostic factors of patients with PRSCC. WES identified 113 somatic single-nucleotide variants, 26 somatic insertions and deletions and mutations in 8 predisposing genes (DST, OR10H3, PTK2B, APOBR, ZNF606, CCN4, ADCK1, and MYH2) and 10 driver genes (KRTAP10-9, HYDIN, ZNF665, KRTAP10-2, GPAM, MUC12, KRT9, CCDC168, DUSP27 and MDC1). Sanger sequencing of germline DNA identified a germline A/G variant in the HYDIN sequence, first reported in PRSCC. Furthermore, IHC analysis indicated that PRSCC was positive for CD56, Syn, insulinoma associated protein 1, CgA and neuron specific enolase. In the population-based study, the majority of patients with PRSCC were elderly (57.92±15.75 years), with a pathological tumor (T) 3/4 stage (68.3%) and presented with lymph node involvement (51.7%) and distant metastasis (51.7%). T stage was an independent prognostic factor for overall survival in patients with PRSCC (P=0.004). Driver mutations in the HYDIN gene may be a key factor in the pathogenesis of PRSCC. HYDIN may serve as a prognostic marker and a target for immunotherapy in the management of PRSCC. However, due to the extreme rarity of PRSCC, the WES analysis in the present study was based solely on individual cases. To ensure the reliability and generalizability of genetic alterations detected by WES, additional PRSCC samples, along with cell and animal experiments, are warranted to confirm the role of these genetic variants (particularly HYDIN) in PRSCC pathogenesis. The functional role of HYDIN mutations in PRSCC pathogenesis requires further validation in future research. - Source: PubMed
Publication date: 2026/03/30
Wang YangZhang LizhiXia XueyanLi Xiancheng - Milk composition in dairy goats, an economically important trait, is coordinately governed by complex metabolic networks and genetic factors. This study employed extreme phenotype grouping and multi-omics analysis of Xinong Saanen dairy goats to systematically elucidate the metabolic and genetic regulatory mechanisms underlying milk fat, SNF, protein, and lactose. Using widely targeted metabolomics, we identified 795 milk metabolites. Differential metabolite analysis revealed 57, 94, 50, and 58 significantly altered metabolites in milk fat, SNF, protein, and lactose, respectively. Subsequent metabolomic GWAS of these metabolites demonstrated significant genetic signals for 17 milk fat-associated metabolites, annotating 330 candidate genes (e.g., JAK2, LIPC, LRP1B). Similarly, 33 SNF-associated metabolites exhibited heritable signals linked to 177 candidate genes (including DGAT2, TGFB1, and NPAS3). For the protein-associated metabolites, 9 showed significant signals corresponding to 18 candidate genes (e.g., SRP54, CABYR, PRRX1), and 6 lactose-associated metabolites carried heritable signals that were mapped to 47 key candidate genes (such as HMGCS1, RXRA, and ADCK1). Collectively, this work identifies critical metabolites and candidate genes governing distinct milk components, deciphers the genetic-metabolic regulatory network influencing milk composition traits from a multidimensional perspective, and provides novel targets for the precise molecular breeding of high-quality goat milk. - Source: PubMed
Publication date: 2026/02/20
Zhang ZhenNi MengkeHuang QingyingLi YifanGong XinglongLuo XinranWang WeiLuo JunLi Cong - Hepatoblastoma is the most common malignant liver tumor of embryonic origin in children; however, its underlying etiology remains unclear. N1-methyladenosine (m1A) modification is widely found in various human tissues and has been demonstrated to regulate tumorigenesis, but no studies have explored the role of ALKBH1 in the development of hepatoblastoma. We genotyped three ALKBH1 gene polymorphisms (rs1048147 C > A, rs6494 T > A, and rs176942 A > G) via the TaqMan method for 313 patients with hepatoblastoma and 1446 healthy subjects, after which the odds ratios (ORs), 95% confidence intervals (CIs), and P values for each polymorphism were calculated. We found that all the three polymorphisms were significantly associated with hepatoblastoma susceptibility. The rs1048147 C > A was shown to reduce hepatoblastoma risk (adjusted OR = 0.72, 95% CI = 0.56–0.92, P = 0.009) under dominant model, whereas rs6494 T > A (adjusted OR = 6.17, 95% CI = 1.37–27.37, P = 0.018) and rs176942 A > G (adjusted OR = 2.12, 95% CI = 1.22–3.69, P = 0.008) significantly increased hepatoblastoma risk under recessive model. Stratified analysis indicated that the rs1048147 CA/AA genotype decreased hepatoblastoma risk in children aged ≥ 17 months, females, and those with clinical stages I + II, whereas the rs176942 GG genotype increased the risk of hepatoblastoma in females. In addition, carriers of 2–3 risk genotypes had higher risk of tumor development, specifically among children aged ≥ 17 months, males, and those diagnosed with clinical stages I–II disease. Finally, eQTL analysis revealed that the three polymorphisms were associated with the expression levels of ADCK1, SNW1, and SLIRP. Overall, our findings revealed a significant association between ALKBH1 gene polymorphisms and hepatoblastoma susceptibility. - Source: PubMed
Publication date: 2026/01/21
He ChongweiPan LinglingZeng XinhaoWang HuaYang ZhonghuaZhang JiaoLi YongLi LiLi SuhongCheng JiwenSong YalanHe JingChen Chaoyang - Wilms tumour (WT) is the most predominant renal carcinoma that affects children, and the understanding of the genetic mechanisms underlying WT development is continually evolving. The role of the demethylase ALKBH1, which is known for its association with diverse cancers, in WT has never been explored. Here, we aimed to investigate the associations between genetic variants of ALKBH1 and WT risk in Chinese children. A total of 414 WT patients and 1199 healthy controls were recruited from five centres in China. Three polymorphisms (rs1048147, rs6494 and rs176942) of the ALKBH1 gene were genotyped via the TaqMan genotyping assay. We found that rs6494 T>A was significantly associated with a reduced risk of WT [TA vs. TT: adjusted odds ratio (AOR) = 0.59, 95% confidence interval (CI) = 0.39-0.87, p = 0.009; TA/AA vs. TT: AOR = 0.61, 95% CI = 0.42-0.91, p = 0.014]. Stratification analysis revealed that the protective genotype of rs6494 (TA/AA) was significantly associated with reduced WT risk in subgroups with ages younger than 18 months, male sex and clinical stages III and III-IV. Moreover, through eQTL analysis, we observed that rs6494 T>A was associated with reduced ALKBH1 expression and elevated SNW1 and ADCK1 expression. We identified the rs6494 T>A polymorphism of the ALKBH1 gene as a WT susceptibility locus, providing valuable insights into the etiology underlying WT susceptibility. - Source: PubMed
Deng ChangmiZhou HaixiaZhang NaChen MinHua Rui-XiCheng JiwenLi SuhongZhang JiaoRuan JichenFu WenHe JingLiu Guochang