Germline PARP4 mutations in patients with primary thyroid and breast cancers.
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Germline PARP4 mutations in patients with primary thyroid and breast cancers.
cognitive impairment is a common and disabling problem in Parkinson’s disease (PD). Identification of genetic variants that influence the presence or severity of cognitive deficits in PD may provide a clearer understanding of the underlying pathophysiology nonmotor this important feature. We genotypes 1105 PD patients of PD cognitive Genetics Consortium for variants using arrays NeuroX 249 336.
Participants assessment is doing the learning and memory (Hopkins Verbal Learning Test-Revised [HVLT-R]), working memory / executive function (Letter-Number Sequencing and Trail Making Test [TMT] A and B), language processing (semantic and phonemic verbal fluency ), visuospatial ability (Benton Judgment Line Orientation [Jolo]), and global cognitive function (Montreal cognitive Assessment).
For common variants, we used linear regression to test for association between genotype and cognitive performance with adjustment for important covariates. Rare variants were analyzed using a unified optimal kernel association test sequence. Threshold of significance was defined as a false discovery rate of corrected p-value (PFDR) 0.05. Eighteen common variants in 13 regions of the genome exceeds the threshold of significance for any of the cognitive tests.
This includes GBA rs2230288 (E326K; PFDR = 2.7 × 10-4) to Jolo, PARP4 rs9318600 (PFDR = 0.006), and rs9581094 (PFDR = 0.006) for HVLT-R total recall, and MTCL1 rs34877994 (PFDR = 0, 01) for TMT BA. Rare variant analysis did not produce significant gene region. We have conducted the first analysis of large-scale genetic PD cognitive and nominated some new suspected susceptibility genes for cognitive decline in PD. These results will require replication in an independent cohort of PD.
Germline PARP4 mutations in patients with primary thyroid and breast cancers.
PARP4 germline mutations in patients with primary thyroid and breast cancer.
Germline mutations in the PTEN gene, which causes Cowden syndrome, which is known as one of the main genetic factor for thyroid and breast cancer; However, PTEN mutations are found in only a small proportion of study participants with non-syndrome, breast and thyroid cancer. In this study, we aimed to identify germline variants that may be associated with a major genetic risk of thyroid and breast cancer. Genomic DNA was extracted from peripheral blood of study participants WT PTEN 14 women with primary thyroid and breast cancer were analyzed by whole exome sequencing.
gene-based case-control association analysis using information from 406 Europeans were obtained from the 1000 Genome Project database identified 34 genes that might be associated with a phenotype with P <1.0 × 10 (-3). Among them, the rare variants in genes significantly PARP4 detected at high frequency (odds ratio = 5.2; P = 1.0 × 10 (-5)). Varian, G496V and T1170I, was found in six of the 14 study participants (43%) while only 0.5% of their frequency in the control.
functional analysis using the HCC1143 cell line showed that siRNA knockdown of PARP4 to significantly enhance cell proliferation compared to cells transfected with siControl (P = 0.02). Kaplan-Meier analysis using the Gene Expression Omnibus (GEO), the European Genome-phenome Archive (EGA) and The Cancer Genome Atlas (TCGA) dataset poor showing relapse-free survival (P <0.001, hazard ratio 1.27) and survival overall (P = 0.006, hazard ratio 1.41) in the low expression group PARP4, indicating that PARP4 may function as a tumor suppressor.
Description: A polyclonal antibody against PARP4. Recognizes PARP4 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:1000-1:2000, IHC:1:25-1:100
Description: A polyclonal antibody against PARP4. Recognizes PARP4 from Human. This antibody is Unconjugated. Tested in the following application: IHC, ELISA;IHC:1/100-1/300.ELISA:1/10000
Description: Description of target: This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus.;Species reactivity: Human;Application: ELISA;Assay info: ;Sensitivity: < 0.061ng/mL
Description: Description of target: This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus.;Species reactivity: Human;Application: ;Assay info: Quantitative Sandwich ELISA;Sensitivity: < 0.061 ng/mL
Description: Recombinant human PARP4 (poly(ADP-ribose) polymerase family member 4), encompassing amino acids 2-700. This construct contains an N-terminal His-tag (6xHis) followed by a GST-tag and a Thrombin Cleavage sight to facilitate removal of the GST-tag. This recombinant protein was affinity purified. Â
Description: A sandwich quantitative ELISA assay kit for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in samples from tissue homogenates or other biological fluids.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in samples from tissue homogenates or other biological fluids.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in samples from Tissue homogenates and other biological fluids. with no significant corss-reactivity with analogues from other species.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
Description: A polyclonal antibody against PARP10. Recognizes PARP10 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:1000-1:2000, IHC:1:25-1:100
Description: A polyclonal antibody against PARP11. Recognizes PARP11 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:2000-1:5000, IHC:1:50-1:200
Description: A polyclonal antibody against PARP11. Recognizes PARP11 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:1000-1:2000, IHC:1:25-1:100
Description: A polyclonal antibody against PARP11. Recognizes PARP11 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB
Description: A polyclonal antibody against PARP15. Recognizes PARP15 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB
Description: A polyclonal antibody against PARP14. Recognizes PARP14 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IF; Recommended dilution: IF:1:50-1:200
Description: A polyclonal antibody against PARP10. Recognizes PARP10 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:2000-1:5000, IHC:1:50-1:200
Description: A polyclonal antibody against PARP2. Recognizes PARP2 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: WB, ELISA;WB:1/500-1/2000.ELISA:1/40000
Description: A polyclonal antibody against PARP3. Recognizes PARP3 from Human. This antibody is Unconjugated. Tested in the following application: IHC, ELISA;IHC:1/100-1/300.ELISA:1/5000
Description: A polyclonal antibody against PARP3. Recognizes PARP3 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:1000-1:2000, IHC:1:25-1:100
Description: A polyclonal antibody against PARP2. Recognizes PARP2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PARP2. Recognizes PARP2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PARP1. Recognizes PARP1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;ELISA:1:1000-1:5000, WB:1:500-1:2000, IHC:1:25-1:100
Description: A polyclonal antibody against PARP8. Recognizes PARP8 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:2000-1:5000, IHC:1:50-1:200
Description: A polyclonal antibody against PARP3. Recognizes PARP3 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:1000-1:2000, IHC:1:25-1:100
Description: A polyclonal antibody against PARP8. Recognizes PARP8 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;ELISA:1:1000-1:2000, WB:1:200-1:1000, IHC:1:50-1:200
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In conclusion, we identified susceptibility genes possibility PARP4 as the primary thyroid and breast cancer.
