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.
Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit
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: 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: 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.
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: 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.
ELISA kit for Human PARP4 (Poly ADP Ribose Polymerase 4)
Description: A sandwich ELISA kit for quantitative measurement of Human PARP4 (Poly ADP Ribose Polymerase 4) in samples from Serum, Plasma, Cell supernatant
CLIA kit for Human PARP4 (Poly ADP Ribose Polymerase 4)
Description: A sandwich CLIA kit for quantitative measurement of Human PARP4 (Poly ADP Ribose Polymerase 4) in samples from Serum, Plasma, Cell supernatant
ELISA kit for Human PARP4 (Poly ADP Ribose Polymerase 4)
Description: A sandwich ELISA kit for detection of Poly ADP Ribose Polymerase 4 from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids.
PARP4 sgRNA CRISPR/Cas9 All-in-One Lentivector set (Human)
Description: This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined.
Description: This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.
Description: This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer.
Description: This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced.
Description: This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Description: This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19.
Description: This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]
Description: This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene.
Description: This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced.
Description: This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19.
Description: This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Description: The CLCN5 gene encodes the chloride channel Cl-/H+ exchanger ClC-5. This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene.
