Matches in SemOpenAlex for { <https://semopenalex.org/work/W2540779881> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W2540779881 abstract "BackgroundAtaxia telangiectasia (A-T) is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult. In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to ionizing radiation (IR), atherosclerosis, diabetes, and cancers. We used SMC1pSer966 (pSMC1) in-cell colorimetric ELISA to diagnosis and screen in A-T families.Materials and Methods: With informed consent, 2cc peripheral blood was collected from the 15 A-T patients, their parents, and 24 healthy controls with no family history of malignancy, diabetes, and atherosclerosis. Extracted peripheral blood mononuclear cells (PBMCs) were cultured in poly-L-Lysine treated 96-well plate with density of 70,000 cells per well. SMC1 phosphorylation was evaluated with cell-based ELISA kit 1 hour after 5 Gy IR and the pSMC1data normalized with Glyceraldehyde-3-phosphate dehydrogenase (GAPDH).Results: SMC1 phosphorylation was significantly low in A-T`s PBMC (mean + standard deviation [SD]: 0.075 + 0.034) in comparison to carriers (mean + SD: 0.190 + 0.060) and healthy controls (mean + SD: 0.312 +0.081), but unluckily could only discriminate A-T patients (Area Under the Curve -receiver operating characteristic [AUC-ROC]: 1.00, 1.00-1.00). This method in spite of rapidness and simplicity showed poor imprecision (22.49% coefficient of variation [CV] for intraday imprecision).Conclusion: It seems pSMC1 assessment by in-cell ELISA can be used for detection of A-T patients, but it may not sensitive enough for identification of carriers. This ELISA test is very simple, rapid, and requires less than 2cc blood. Thus it may be proposed for the early differential diagnosis of A-T as an alternative method." @default.
- W2540779881 created "2016-11-04" @default.
- W2540779881 creator A5027722795 @default.
- W2540779881 creator A5028354492 @default.
- W2540779881 creator A5029619155 @default.
- W2540779881 creator A5040499257 @default.
- W2540779881 creator A5057262090 @default.
- W2540779881 creator A5070559029 @default.
- W2540779881 creator A5074794822 @default.
- W2540779881 creator A5075077705 @default.
- W2540779881 date "2016-12-01" @default.
- W2540779881 modified "2023-09-26" @default.
- W2540779881 title "Phospho-SMC1 in-Cell ELISA based Detection of Ataxia Telangiectasia" @default.
- W2540779881 cites W1496608120 @default.
- W2540779881 cites W1963673805 @default.
- W2540779881 cites W1973874596 @default.
- W2540779881 cites W2006757682 @default.
- W2540779881 cites W2008684482 @default.
- W2540779881 cites W2010595044 @default.
- W2540779881 cites W2012074463 @default.
- W2540779881 cites W2016434246 @default.
- W2540779881 cites W2030442152 @default.
- W2540779881 cites W2040981295 @default.
- W2540779881 cites W2049690041 @default.
- W2540779881 cites W2053564746 @default.
- W2540779881 cites W2055627594 @default.
- W2540779881 cites W2059424997 @default.
- W2540779881 cites W2078544177 @default.
- W2540779881 cites W2102759842 @default.
- W2540779881 cites W2118609150 @default.
- W2540779881 cites W2123304039 @default.
- W2540779881 cites W2145000909 @default.
- W2540779881 cites W2148172964 @default.
- W2540779881 cites W2286424797 @default.
- W2540779881 doi "https://doi.org/10.22038/ijp.2016.7751" @default.
- W2540779881 hasPublicationYear "2016" @default.
- W2540779881 type Work @default.
- W2540779881 sameAs 2540779881 @default.
- W2540779881 citedByCount "1" @default.
- W2540779881 countsByYear W25407798812018 @default.
- W2540779881 crossrefType "journal-article" @default.
- W2540779881 hasAuthorship W2540779881A5027722795 @default.
- W2540779881 hasAuthorship W2540779881A5028354492 @default.
- W2540779881 hasAuthorship W2540779881A5029619155 @default.
- W2540779881 hasAuthorship W2540779881A5040499257 @default.
- W2540779881 hasAuthorship W2540779881A5057262090 @default.
- W2540779881 hasAuthorship W2540779881A5070559029 @default.
- W2540779881 hasAuthorship W2540779881A5074794822 @default.
- W2540779881 hasAuthorship W2540779881A5075077705 @default.
- W2540779881 hasConcept C143425029 @default.
- W2540779881 hasConcept C153911025 @default.
- W2540779881 hasConcept C2779486608 @default.
- W2540779881 hasConcept C54355233 @default.
- W2540779881 hasConcept C552990157 @default.
- W2540779881 hasConcept C71924100 @default.
- W2540779881 hasConcept C86803240 @default.
- W2540779881 hasConceptScore W2540779881C143425029 @default.
- W2540779881 hasConceptScore W2540779881C153911025 @default.
- W2540779881 hasConceptScore W2540779881C2779486608 @default.
- W2540779881 hasConceptScore W2540779881C54355233 @default.
- W2540779881 hasConceptScore W2540779881C552990157 @default.
- W2540779881 hasConceptScore W2540779881C71924100 @default.
- W2540779881 hasConceptScore W2540779881C86803240 @default.
- W2540779881 hasLocation W25407798811 @default.
- W2540779881 hasOpenAccess W2540779881 @default.
- W2540779881 hasPrimaryLocation W25407798811 @default.
- W2540779881 hasRelatedWork W187068316 @default.
- W2540779881 hasRelatedWork W1986342354 @default.
- W2540779881 hasRelatedWork W1995515455 @default.
- W2540779881 hasRelatedWork W2037831730 @default.
- W2540779881 hasRelatedWork W2060871752 @default.
- W2540779881 hasRelatedWork W2096637434 @default.
- W2540779881 hasRelatedWork W2361859934 @default.
- W2540779881 hasRelatedWork W2748952813 @default.
- W2540779881 hasRelatedWork W2899084033 @default.
- W2540779881 hasRelatedWork W3032375762 @default.
- W2540779881 isParatext "false" @default.
- W2540779881 isRetracted "false" @default.
- W2540779881 magId "2540779881" @default.
- W2540779881 workType "article" @default.