Ask about this productRelated genes to: BEND7 Blocking Peptide
- Gene:
- BEND7 NIH gene
- Name:
- BEN domain containing 7
- Previous symbol:
- C10orf30
- Synonyms:
- FLJ40283
- Chromosome:
- 10p13
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-21
- Date modifiied:
- 2016-10-05
Related products to: BEND7 Blocking Peptide
Related articles to: BEND7 Blocking Peptide
- Molecular characterization and identification of selection signals at the genome-wide level facilitate the enhancement of ongoing conservation and selection studies in farm animals. This study aimed to reveal genomic diversity and selection signatures in Anatolian Merino sheep via 351 539 bi-allelic single-nucleotide polymorphisms (SNPs) obtained from the double-digest restriction-site-associated DNA sequencing (ddRADseq) technique. Genetic variability parameters such as minor-allele frequency (MAF), nucleotide diversity ( ), observed heterozygosity ( ), and expected heterozygosity ( ) were estimated to be 0.340, 0.235, 0.258, and 0.235, respectively, while the inbreeding coefficient was 0.027 based on runs of homozygosity (ROH). A decreasing trend was detected in the effective population size of Anatolian Merino sheep, the current population of which turned out to be descendants of an ancestral population covering 2500 individuals 400 generations ago. Significant selection signals were detected in 464 SNPs within 14 genomic intervals via the ROH approach, whereas 259 SNPs were categorized into 79 genomic intervals by integrated haplotype score (iHS) statistics. A total of 37 and 72 protein-coding genes overlapped with detected genomic intervals in ROH and iHS approaches, respectively. A survey of a sheep QTL database confirmed that selection signals covered 66 QTL-associated SNPs. A large part of the protein-coding genes under selection pressure were mainly associated with milk production (, , , , , , , , , , , , , , , and ) and udder morphology (, , , and ), while numerous genes turned out to have effects on total muscle area (), bone density (), carcass traits (), fecal egg count (), and immunoglobulin A level in blood circulation (, , , , , and ). The results of this study confirm that high-density next-generation sequencing (NGS) data could be utilized to characterize local sheep breeds to shape conservation programs and shed light on the past breeding practices of the populations whose phenotypic records are absent. - Source: PubMed
Publication date: 2025/02/26
Karsli Taki - Pediatric papillary thyroid carcinoma (PPTC; under age 18 at the time of diagnosis) is relatively uncommon. There are few studies concerning the genetic background of PPTC in Asian countries. In this study, we reviewed 124 cases of PPTC from a single medical center in China. DNA-based next-generation sequencing (NGS) was performed to identify genetic alterations, with receptor tyrosine kinase (RTK) fusions further validated by RNA-based NGS. DICER1 mutations and TERT promoter mutations were detected by Sanger sequencing. We also explored the relationship between these genetic alterations and the clinicopathologic features, as well as the prognostic factors. Three recombinant plasmids expressing V5/HIS-tagged RTK fusion proteins (BEND7::ALK, DLG5::RET, CCDC30::ROS1) were constructed to investigate the in vitro effects. We found that the two most common subtypes were the classic subtype (77.4%) and the diffuse sclerosing subtype (17.7%). Hashimoto's thyroiditis was observed in 42.3% of cases, and regional lymph node metastasis was present in 82.9% of patients. The most frequent genetic alteration was the BRAF c.1799 T > A (p.V600E) mutation (63 patients, 50.8%), followed by RTK fusions (31 patients, 25.0%). A DICER1 mutation was detected in two cases, and TERT promoter mutations were not observed in any of the patients. RTK fusions were associated with the diffuse sclerosing subtype, Hashimoto's thyroiditis, and extrathyroidal extension. Adverse prognostic factors identified included RTK fusion, age under 14 years, and tumor size over 2 cm. Additionally, a significant proportion of these patients had actionable molecular alterations. Three rare kinase fusions, BEND7::ALK, DLG5::RET, and CCDC30::ROS1, were shown to induce phosphorylation of the MAPK pathway and promote cell proliferation in vitro. The specific RTK inhibitors could counteract the fusion-induced cell proliferation. Our data highlights the genetic landscape of Chinese PPTC patients, with RTK fusions being associated with aggressive clinicopathologic features. The rare fusions BEND7::ALK, DLG5::RET, and CCDC30::ROS1 may contribute to PPTC development with a BRAF-like effect. - Source: PubMed
Publication date: 2025/02/21
Liu YixuanBao LongnvLi GuangqiKong WeimaoLi XueqingWang JingnanPan XingzhuZhang ZhenWang Jigang - Background: Sepsis is a life-threatening condition driven by a dysregulated immune response to infection. Identifying the genetic factors underlying sepsis pathogenesis remains a major challenge in developing effective treatments. Methods: The Summary data-based Mendelian Randomization method was used to integrate Genome-Wide Association Studies and expression quantitative trait loci data to identify sepsis-related genes. These genes were intersected with prognostic gene sets from Gene Expression Omnibus transcriptomic datasets and validated using an independent dataset. Comprehensive single-cell RNA sequencing analysis, including cell clustering, differential expression analysis, cell-cell communication mapping, and pseudotime trajectory analysis, was performed to explore the roles of the identified genes within the sepsis microenvironment. Results: Intersection of Summary data-based Mendelian Randomization and Gene Expression Omnibus gene sets, followed by validation, identified two risk genes and five protective genes as significantly differentially expressed. The risk gene BEND7, predominantly expressed in platelets, was further analyzed using single-cell RNA sequencing, revealing strong interactions with immune cells, particularly monocytes and neutrophils, via the intercellular adhesion molecule signaling pathway. Functional enrichment analysis suggested that BEND7-positive platelets play a role in immune modulation and platelet activation. Conclusion: BEND7 was identified as a platelet-specific gene involved in immune regulation during sepsis. Targeting BEND7-positive platelets may present new therapeutic opportunities in sepsis management. - Source: PubMed
Publication date: 2024/11/29
Ren ChaoLiu YuyangDing ZhangnaYang ZhanyuWan TaoZhang NingChen JunyiFeng HuiLiu Qi - Clinical biomarkers such as fasting glucose, HbA1c, and fasting insulin, which gauge glycemic status in the body, are highly influenced by diet. Indians are genetically predisposed to type 2 diabetes and their carbohydrate-centric diet further elevates the disease risk. Despite the combined influence of genetic and environmental risk factors, Indians have been inadequately explored in the studies of glycemic traits. Addressing this gap, we investigate the genetic architecture of glycemic traits at genome-wide level in 4927 Indians (without diabetes). Our analysis revealed numerous variants of sub-genome-wide significance, and their credibility was thoroughly assessed by integrating data from various levels. This identified key effector genes, ZNF470, DPP6, GXYLT2, PITPNM3, BEND7, and LORICRIN-PGLYRP3. While these genes were weakly linked with carbohydrate intake or glycemia earlier in other populations, our findings demonstrated a much stronger association in the Indian population. Associated genetic variants within these genes served as expression quantitative trait loci (eQTLs) in various gut tissues essential for digestion. Additionally, majority of these gut eQTLs functioned as methylation quantitative trait loci (meth-QTLs) observed in peripheral blood samples from 223 Indians, elucidating the underlying mechanism of their regulation of target gene expression. Specific co-localized eQTLs-meth-QTLs altered the binding affinity of transcription factors targeting crucial genes involved in glucose metabolism. Our study identifies previously unreported genetic variants that strongly influence the diet-glycemia relationship. These findings set the stage for future research into personalized lifestyle interventions integrating genetic insights with tailored dietary strategies to mitigate disease risk based on individual genetic profiles. - Source: PubMed
Publication date: 2024/09/04
Nair Janaki MBandesh KhushdeepGiri Anil KPrasad GauriRajashekhar DonakaJha PunamBasu AnalabhaTandon NikhilBharadwaj Dwaipayan - Skin pigmentation is a complex trait that varies largely among populations. Most genome-wide association studies of this trait have been performed in Europeans and Asians. We aimed to uncover genes influencing skin colour in African-admixed individuals. We performed a genome-wide association study of melanin levels in 285 Hispanic/Latino individuals from Puerto Rico, analyzing 14 million genetic variants. A total of 82 variants with p-value ≤1 × 10 were followed up in 373 African Americans. Fourteen single nucleotide polymorphisms were replicated, of which nine were associated with skin colour at genome-wide significance in a meta-analysis across the two studies. These results validated the association of two previously known skin pigmentation genes, SLC24A5 (minimum p = 2.62 × 10, rs1426654) and SLC45A2 (minimum p = 9.71 × 10, rs16891982), and revealed the intergenic region of BEND7 and PRPF18 as a novel locus associated with this trait (minimum p = 4.58 × 10, rs6602666). The most significant variant within this region is common among African-descent populations but not among Europeans or Native Americans. Our findings support the advantages of analyzing African-admixed populations to discover new genes influencing skin pigmentation. - Source: PubMed
Publication date: 2017/03/16
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