ECHDC1 antibody - C-terminal region (OAAB06256)
- Known as:
- ECHDC1 (anti-) - C-terminal region (OAAB06256)
- Catalog number:
- oaab06256
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- ECHDC1 antibody - C-terminal region (OAAB06256)
Related genes to: ECHDC1 antibody - C-terminal region (OAAB06256)
- Gene:
- ECHDC1 NIH gene
- Name:
- ethylmalonyl-CoA decarboxylase 1
- Previous symbol:
- -
- Synonyms:
- dJ351K20.2
- Chromosome:
- 6q22.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-26
- Date modifiied:
- 2015-09-11
Related products to: ECHDC1 antibody - C-terminal region (OAAB06256)
Related articles to: ECHDC1 antibody - C-terminal region (OAAB06256)
- Advanced renal failure remains a major global health burden. Mitochondrial dysfunction is frequently observed during progressive kidney injury and chronic allograft dysfunction (CAD), but observational data cannot distinguish causal involvement from secondary consequences. We applied a multi-omic genetic prioritization framework to evaluate whether inherited variation affecting mitochondrial gene regulation is associated with a proxy phenotype for advanced renal failure and fibrotic allograft remodeling. - Source: PubMed
Publication date: 2026/03/27
Shen QinghuanDing RunminWen ZhiyuFeng DengyuanZhang JianjianLiu JiawenHan QianguangSun LiChen HaoFei ShuangXu ZhenHao RuijinlinTan Ruoyun - Intramuscular fat (IMF) content is a critical determinant of beef quality and is regulated by various factors. However, the molecular mechanisms underlying IMF deposition in cattle remain poorly understood, particularly with regard to multi-omics integrated analyses. In this study, an integrative analysis of transcriptomic and proteomic profiles was performed on intramuscular fat tissue of Jiaxian Red cattle with different marbling grades to identify key genes and pathways involved in intramuscular fat deposition in beef cattle. Integrated analysis showed that 4532 genes were co-expressed at both mRNA and protein level, among which 21 genes exhibited significant differential expression at mRNA and protein level. These genes showed significant enrichment in lipid biosynthesis and metabolic processes. ECHDC1 was selected for in-depth functional studies on bovine intramuscular preadipocyte adipogenesis as a candidate gene via RNA interference and overexpression techniques. The results indicated that knockdown of ECHDC1 inhibited the adipogenesis of bovine intramuscular preadipocytes and significantly upregulated the expression of HSL. Conversely, overexpression of ECHDC1 promoted the adipogenesis of bovine intramuscular preadipocytes, decreased the expression of HSL and increased the expression of FABP4. In summary, these results suggested that ECHDC1 promoted intramuscular fat deposition by attenuating lipolysis rate by downregulating the expression of the lipolytic gene HSL, providing a potential molecular target for enhancing IMF content in beef cattle. - Source: PubMed
Publication date: 2025/12/11
He RuiyingLiu LiKong XianyaWang NanfeiTan JianbingWu ZhangqingZan LinsenYang Wucai - BACKGROUND/OBJECTIVES: Triple-negative breast cancers (TNBCs) are the most aggressive, heterogeneous subtype of breast carcinoma with increased chemoradioresistance and a high rate of relapse. A compelling need exists to discover specific gene mutation(s) and the exomic mutational landscape associated with Indian TNBC patients to identify potential therapeutic target(s) for effective treatment of TNBC. METHODS: Whole-exome sequencing (WES) was performed on 15 TNBC patients along with 5 random adjacent normal control tissue (ANCT) specimens. WES data alignment and mapping to the reference human genome (hg19) were done using BWA, SAMtools, and Picard tools. The data analysis and mutation calling were performed using the Genome Analysis Toolkit. The Signal Analyze and PANTHER pathways tools were utilized for mutational signature(s) and pathway(s) analysis, respectively. RESULTS: Our data revealed that the TNBC genomes carried an average of ~ 106 mutations per sample. MutSig2CV analysis showed the most significant recurrent somatic mutations in CTNNB1 (47%; 7/15), TP53 (33%; 5/15), SLC7A8 (27%; 4/15), AMOT (20%; 3/15), CLEC11A (20%; 3/15), and ECHDC1 (13%; 2/15) with a q value of ≤ 0.1. We also observed somatic recurrent mutations in other important cancer-associated genes such as ABCC3, BRCA1, BRCA2, BIRC6, CDH7, CSMD3, MUC12, MUC16, NT5C1B, PIK3CA, POLE, STK31, TTN, and ZFHX4. Moreover, we have noticed germline mutations in TP53, BIN1, MLH1, PIK3CA, and GPSM2. Interestingly, the TNBC genomes exhibited a predominance of signature 1, which is associated with spontaneous deamination of 5-methylcytosine; signature 3 represented the failure of DNA double-strand break repair by homologous recombination; and signature 5 correlated with transcriptional strand bias. Interestingly, the high tumor mutational burden was observed specifically in TNBC patients with signature 3. Furthermore, these mutations were involved in several major signaling pathways, including the Wnt, p53, PDGF, cadherin, DNA replication, integrin, and apoptosis signaling pathways. CONCLUSIONS: Together, the findings indicated that the crucial role played by these key genetic mutations could be utilized in screening and developing potential targeted therapeutics for TNBC patients. - Source: PubMed
Publication date: 2025/12/01
Preeti PDas Ankan MukherjeeKumar PrabhatGogia AjayKumar LalitDeo S V SMathur SandeepJanardhanan RajivRawal KamalGarg ManojDas Bhudev C - 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 - Urinary bladder cancer (UBC) often develops chemoresistance, reducing treatment effectiveness. This study aimed to investigate diverse molecular mechanisms underlying acquired resistance by establishing and characterizing a comprehensive panel of UBC cell lines resistant to common chemotherapeutics. Fifteen UBC cell lines were examined: three parental lines (RT-112, TCC-SUP, UMUC-3) and twelve derived sublines adapted to cisplatin, vinblastine, or gemcitabine. Drug sensitivity was assessed using the SRB assay. Resistance mechanisms were explored via quantitative real-time PCR (targeting genes including , , , , ), Western blotting (assessing proteins such as p21, Cyclin B, and Mcl-1), and biochemical assessment of glutathione levels and redox state. The adapted sublines exhibited distinct resistance profiles and cross-resistance patterns. Gene expression and protein analyses revealed drug- and lineage-specific alterations, involving factors such as p21, Cyclin B, and Mcl-1. Changes in glutathione metabolism were also associated with resistance. Notably, no single, universal mechanism accounted for resistance across the entire panel. UBC cells develop diverse, context-dependent adaptive strategies to resist cisplatin, vinblastine, and gemcitabine. These findings highlight the complexity of chemoresistance mechanisms. The characterized cell line panel represents a valuable resource for future studies aimed at understanding and overcoming drug resistance in bladder cancer, suggesting that personalized therapeutic approaches may be necessary. - Source: PubMed
Publication date: 2025/09/12
Cuprych-Belter MonikaŁupicka-Słowik AgnieszkaAnisiewicz ArturMichaelis MartinCinatl JindrichPsurski Mateusz