B3GNTL1

更新于：2025-05-07

基本信息

别名

B3GNT8、B3GNTL1、Beta-1,3-Gn-T8

+ [9]

简介

Glycosyltransferase that specifically catalyzes galactosylation of cytoplasmic tRNA(Tyr) modified with queuosine at position 34 (queuosine(34)) (PubMed:37992713). Galactosylates the cyclopentene hydroxyl group of queuosine(34) in tRNA(Tyr) to form galactosyl-queuosine(34) (PubMed:37992713). Mannosylation of queuosine(34) in tRNA(Tyr) is required to slow-down elongation at cognate codons UAC and suppress stop codon readthrough, thereby regulating protein translation (PubMed:37992713).

关联

100 项与 B3GNTL1 相关的临床结果

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100 项与 B3GNTL1 相关的转化医学

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0 项与 B3GNTL1 相关的专利（医药）

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项与 B3GNTL1 相关的文献（医药）

2025-05-01·International Journal of Biological Macromolecules

Whole-exome sequencing identifies EP300 variants associated with visceral leishmaniasis relapse

Article

作者: Dikhit, Manas Ranjan ; Mukherjee, Rimi ; Abhishek, Kumar ; Sen, Abhik ; Singh, Sneha

Despite efforts to eliminate Visceral Leishmaniasis (VL) in India, it continues to be a public health issue due to the occurrence of relapse post AmBisome treatment. The role of host genetics in susceptibility of VL relapse is not clearly understood. Here we have performed whole exome sequencing (WES) on healthy, VL relapse and non-relapse individuals. Comparing the nonsynonymous single nucleotide variants (SNVs) among the VL group (n = 26) and healthy (n = 12) revealed 6 gene variants viz.: MTTP, ABCA4, CIB4, LRRIO1, NANOG, and GCNT4 with a significant correlation (P < 0.01) with VL susceptibility. Twelve variants viz.: EP300, MRS2, GOLGA8K, SCL37A2, HERC5, STIL, WDR4, MINDY4B, B3GNTL1, SAMD7, ATF7IP2 and OR56B4 correlated with VL relapse (n = 14) susceptibility. EP300, a histone acetyl-transferase, was found mutated in all the 14 relapse cases. The expression levels of CCL-2, CSF-1, IL-10, IL-6, PD-1 and CTLA-4 were found higher in the VL relapse cases and may be responsible for M2 macrophage polarization and T-cell exhaustion. Thus, individuals harbouring EP300 variants may have poor immune response leading to relapse.

2023-04-26·Biomarker research

Accurate detection of early-stage lung cancer using a panel of circulating cell-free DNA methylation biomarkers.

Article

作者: Ye, Zhujia ; Fan, Jian-Bing ; Ni, Bin ; Wang, Bo ; Chen, Haisheng ; Hu, Shuo ; Tao, Jinsheng ; Yu, Haifeng ; Peng, Minhua ; Chen, Zhiwei

BACKGROUNDLung cancer remains the leading cause of cancer mortality worldwide. Early detection of lung cancer helps improve treatment and survival. Numerous aberrant DNA methylations have been reported in early-stage lung cancer. Here, we sought to identify novel DNA methylation biomarkers that could potentially be used for noninvasive early diagnosis of lung cancers.METHODSThis prospective-specimen collection and retrospective-blinded-evaluation trial enrolled a total of 317 participants (198 tissues and 119 plasmas) comprising healthy controls, patients with lung cancer and benign disease between January 2020 and December 2021. Tissue and plasma samples were subjected to targeted bisulfite sequencing with a lung cancer specific panel targeting 9,307 differential methylation regions (DMRs). DMRs associated with lung cancer were identified by comparing the methylation profiles of tissue samples from patients with lung cancer and benign disease. Markers were selected with minimum redundancy and maximum relevance algorithm. A prediction model for lung cancer diagnosis was built through logistic regression algorithm and validated independently in tissue samples. Furthermore, the performance of this developed model was evaluated in a set of plasma cell-free DNA (cfDNA) samples.RESULTSWe identified 7 DMRs corresponding to 7 differentially methylated genes (DMGs) including HOXB4, HOXA7, HOXD8, ITGA4, ZNF808, PTGER4, and B3GNTL1 that were highly associated with lung cancer by comparing the methylation profiles of lung cancer and benign nodule tissue. Based on the 7-DMR biomarker panel, we developed a new diagnostic model in tissue samples, termed "7-DMR model", to distinguish lung cancers from benign diseases, achieving AUCs of 0.97 (95%CI: 0.93-1.00)/0.96 (0.92-1.00), sensitivities of 0.89 (0.82-0.95)/0.92 (0.86-0.98), specificities of 0.94 (0.89-0.99)/1.00 (1.00-1.00), and accuracies of 0.90 (0.84-0.96)/0.94 (0.89-0.99) in the discovery cohort (n = 96) and the independent validation cohort (n = 81), respectively. Furthermore, the 7-DMR model was applied to noninvasive discrimination of lung cancers and non-lung cancers including benign lung diseases and healthy controls in an independent validation cohort of plasma samples (n = 106), yielding an AUC of 0.94 (0.86-1.00), sensitivity of 0.81 (0.73-0.88), specificity of 0.98 (0.95-1.00), and accuracy of 0.93 (0.89-0.98).CONCLUSIONThe 7 novel DMRs could be promising methylation biomarkers that merits further development as a noninvasive test for early detection of lung cancer.

2022-01-01·Scandinavian Journal of Work, Environment & Health2区 · 医学

Cancer-related changes and low-to-moderate exposure to welding fumes: A longitudinal study

2区 · 医学

Article

作者: Cediel-Ulloa, A. ; Albin, M. ; Broberg, K. ; Dauter, U. M. ; Gliga, A. R. ; Alhamdow, A.

OBJECTIVEThis study tested for an association between early cancer-related biomarkers and low-to-moderate exposure to fumes from welding mild steel.METHODSMale, non-smoking participants from southern Sweden were recruited and examined (N=338, 171 welders and 167 controls); of these, 78 welders and 96 controls were examined on two occasions six years apart. Exposure to welding fumes was evaluated by measuring respirable dust, welding years, and cumulative exposure. DNA methylation of CpG sites within the cancer-related genes AHRR, F2RL3, and B3GNTL1 was measured by pyrosequencing and relative mitochondrial DNA copy number and telomere length were measured by qPCR in whole-blood samples. Multivariate models were used for longitudinal analysis.RESULTSMedian exposure to respirable dust was 0.7 mg/m³ at both timepoints, adjusted for use of personal protective equipment. Compared with controls, welders showed a significant decrease over time in DNA methylation of B3GNTL1 CpG1 and CpG4 [adjusted for age, body mass index, and smoking: β=-0.66, standard error (SE)=0.28; β=-0.48, SE=0.24, respectively]. In addition, exposure to respirable dust and cumulative exposure was associated with a decrease in methylation of F2RL3 CpG2 among all welders (adjusted β=-0.67, SE=0.23 and β=-0.03, SE=0.02, respectively). No significant associations were found for AHRR, mitochondrial DNA copy number, or telomere length.CONCLUSIONLow-to-moderate exposure to welding fumes was associated with a small effect on selected early epigenetic biomarkers of cancer. The direction of the methylation pattern (lower methylation of specific CpG sites) indicates early lung cancer-related changes associated with mild steel welding.

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