PGBD3 antibody - N-terminal region (ARP36534_T100)
- Known as:
- PGBD3 (anti-) - N-terminal region (ARP36534_T100)
- Catalog number:
- arp36534_t100
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- PGBD3 antibody - N-terminal region (ARP36534_T100)
Related genes to: PGBD3 antibody - N-terminal region (ARP36534_T100)
- Gene:
- PGBD3 NIH gene
- Name:
- piggyBac transposable element derived 3
- Previous symbol:
- -
- Synonyms:
- FLJ90201
- Chromosome:
- 10q11
- Locus Type:
- gene with protein product
- Date approved:
- 2002-10-23
- Date modifiied:
- 2014-11-19
Related products to: PGBD3 antibody - N-terminal region (ARP36534_T100)
Related articles to: PGBD3 antibody - N-terminal region (ARP36534_T100)
- Cockayne syndrome is a rare condition that encompasses a very wide spectrum of clinical severity. Mutations upstream of a transposon called PiggyBac Transposable Element Derived 3 in intron 5 of the gene could bring about less severe forms than mutations located downstream of that transposon insertion. Our aim was to study genotype-phenotype correlation by determining whether the position of each mutation of the gene has an impact on the phenotype. A hundred and forty-seven Cockayne patients, who had two pathogenic mutations in the gene and for whom clinical data was available, were retrospectively selected and included in the study. Data analysis was performed under the Bayesian paradigm. Analysis of the proportion of the different subtypes of Cockayne syndrome according to the position of the mutations was done using an ordinal logistic regression model. Using a vague prior, the risk of developing a more severe subtype when exposed to 2 mutations downstream compared to 2 mutations upstream was 2.0 [0.9-4.5]. Estimations varied through the sensitivity analysis. We could reasonably conclude that a relationship between the number of downstream mutations and the Cockayne syndrome clinical expression exists but it is still difficult to give a precise estimate of this relationship. The real effect could be more complex that the one described in the initial model and other genetic factors might be taken into consideration together with the mutation site to better explain clinical variability. - Source: PubMed
Publication date: 2022/02/17
Damaj-Fourcade RayanneMeyer NicolasObringer CathyLe May NicolasCalmels NadègeLaugel Vincent - Hepatocellular carcinoma (HCC) is one of the most common malignant tumors and the third of cancer mortality worldwide. Although the study of HCC has made great progress, the molecular mechanism and signal pathways of HCC are not yet clear. Therefore, it is necessary to investigate the early diagnosis and prognosis biomarkers for HCC. The aim of this study is to screen the relevant genes and study the association of gene expression with the survival status of HCC patients using bioinformatics approaches, in the hope of establishing marker genes for diagnosis and prognosis of HCC. The gene expression data and corresponding clinical information of HCC samples were downloaded from the The Cancer Genome Atlas database. We performed to study the relationship between gene expression and prognosis of HCC and screen significantly relevant genes associated with prognosis of HCC by analyzing survival and function enrichment of genes. In this study, we collected 421 samples with gene expression data, including 371 tumor samples and 50 normal samples. By using single factor Cox regression analysis, we screened 1,197 genes significantly associated with survival time in the modeling data containing 117 samples and also searched six genes as the best markers to predict living status of HCC patients. Besides, we established score system of survival risk of HCC. Our study recognized six genes (PGBD3, PGM5P3-AS1, RNF5, UTP11, BAG6, and KCND2) to be significantly associated with diagnosis and prognosis of HCC, providing novel targets for studying potential mechanism about the progression of HCC. - Source: PubMed
Publication date: 2018/12/17
Zhang YaqiongWang YongLiu HuaidongLi Bo - Cockayne syndrome (CS) is a severe disorder with no effective treatment. The Cockayne syndrome group B (CSB) gene is one gene responsible for CS and also causes UV sensitive syndrome (UVS), a disorder that causes mild symptoms. How the CSB gene determines a patient's fate is unknown, but one intriguing point is that in UVS patient cell, there are nonsense mutations in both alleles at the same position in each upstream region of the PiggyBac transposable element derived 3 (PGBD3) inserted region. In contrast, in CS patient cells, there is at least one allele with several mutations downstream of the PGBD3 inserted region, or there are homozygous mutations in exon 1. Here, we designed and synthesized 24 splice switching oligonucleotides (SSOs) to skip exon 3 in CSB mRNA. Use of these SSOs induced a frame shift in order to generate an alternative stop codon at the upstream region of the PGBD3 invasion site. As a result, a reduction of mitochondrial membrane potential following HO treatment in CS cell was recovered. It was demonstrated that up-regulation of several gene expression brought about by SSOs are related to mitochondrial dysfunction in CS cells. - Source: PubMed
Publication date: 2018/04/09
Sin YooksilMakimura FutabaSaijo MasafumiObika Satoshi - There are numerous applications of quantitative PCR for both diagnostic and basic research. As in many other techniques the basis of quantification is that comparisons are made between different (unknown and known or reference) specimens of the same entity. When the aim is to compare real quantities of different species in samples, one cannot escape their separate precise absolute quantification. We have established a simple and reliable method for this purpose (Ct shift method) which combines the absolute and the relative approach. It requires a plasmid standard containing both sequences of amplicons to be compared (e.g. the target of interest and the endogenous control). It can serve as a reference sample with equal copies of templates for both targets. Using the ΔΔCt formula we can quantify the exact ratio of the two templates in each unknown sample. The Ct shift method has been successfully applied for transposon gene copy measurements, as well as for comparison of different mRNAs in cDNA samples. This study provides the proof of concept and introduces some potential applications of the method; the absolute nature of results even without the need for real reference samples can contribute to the universality of the method and comparability of different studies. - Source: PubMed
Publication date: 2016/10/26
Kolacsek OrsolyaPergel EnikőVarga NóraApáti ÁgotaOrbán Tamás I - Premature ovarian failure (POF) is a rare, heterogeneous disorder characterized by cessation of menstruation occurring before the age of 40 years. Genetic etiology is responsible for perhaps 25% of cases, but most cases are sporadic and unexplained. In this study, through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 sporadic cases, we identified three novel mutations in the fusion gene CSB-PGBD3. Subsequently functional studies suggest that mutated CSB-PGBD3 fusion protein was impaired in response to DNA damage, as indicated by delayed or absent recruitment to damaged sites. Our data provide the first evidence that mutations in the CSB-PGBD3 fusion protein can cause human disease, even in the presence of functional CSB, thus potentially explaining conservation of the fusion protein for 43 My since marmoset. The localization of the CSB-PGBD3 fusion protein to UVA-induced nuclear DNA repair foci further suggests that the CSB-PGBD3 fusion protein, like many other proteins that can cause POF, modulates or participates in DNA repair. - Source: PubMed
Publication date: 2015/07/28
Qin YingyingGuo TingLi GuangyuTang Tie-ShanZhao ShidouJiao XueGong JuanjuanGao FeiGuo CaixiaSimpson Joe LeighChen Zi-Jiang