Matches in SemOpenAlex for { <https://semopenalex.org/work/W2081679672> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2081679672 endingPage "1948" @default.
- W2081679672 startingPage "1945" @default.
- W2081679672 abstract "Hypophosphatasia (HOPS) is a clinically heterogeneous heritable disorder characterized by defective skeletal mineralization, deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, and premature loss of deciduous teeth. The gene for TNSALP is located on chromosome 1p34-36.1 and consists of 12 exons and 11 introns. In our previous study, we found the novel point mutations (G1144A and T979C) from the genomic TNSALP gene of a patient with childhood HOPS. In this study, we have characterized the protein translated from the mutant G1144A gene. Wild-type and G1144A mutant-type TNSALP cDNA expression vector pcDNA3 have been constructed and transfected to COS-1 cells by lipofectin technique. After 48-h or 72-h transfection, cells were collected and homogenized using polytron homogenizer. After centrifugation at 10,000 g for 10 minutes, the supernatant was assayed. ALP activity was determined with 10 mM of p-nitrophenylphosphate as a substrate in 100 mM of 2-amino-2-methyl-1,3-propanediol-HCl buffer containing 5 mM of MgCl2. ALP activity of cells transfected with the mutant cDNA (G1144A) plasmid after 48-h or 72-h transfection exhibited 0.063 +/- 0.012 U/mg and 0.054 +/- 0.012 U/mg, respectively. As the enzymatic activity of the wild type was taken as 100%, the value of the mutant was estimated as 2.7% and 1.7%, respectively. These values were not significantly different from those found with mock-transfected cells, that is, 2.5% and 1.5%, respectively. This study indicated that the mutation (G1144A) produced the inactive ALP enzyme and would be a disease-causing mutation of the childhood-type HOPS." @default.
- W2081679672 created "2016-06-24" @default.
- W2081679672 creator A5025696454 @default.
- W2081679672 creator A5039377198 @default.
- W2081679672 creator A5069086962 @default.
- W2081679672 creator A5078696360 @default.
- W2081679672 creator A5079832439 @default.
- W2081679672 creator A5057531302 @default.
- W2081679672 date "2002-11-01" @default.
- W2081679672 modified "2023-10-17" @default.
- W2081679672 title "Function of Mutant (G1144A) Tissue-Nonspecific ALP Gene From Hypophosphatasia" @default.
- W2081679672 cites W1582494798 @default.
- W2081679672 cites W1675673684 @default.
- W2081679672 cites W1689494938 @default.
- W2081679672 cites W1968360064 @default.
- W2081679672 cites W1973772928 @default.
- W2081679672 cites W1996058105 @default.
- W2081679672 cites W2001258881 @default.
- W2081679672 cites W2005666133 @default.
- W2081679672 cites W2008544782 @default.
- W2081679672 cites W2013628890 @default.
- W2081679672 cites W2017687105 @default.
- W2081679672 cites W2021656154 @default.
- W2081679672 cites W2023331400 @default.
- W2081679672 cites W2039274139 @default.
- W2081679672 cites W2044039675 @default.
- W2081679672 cites W2056103605 @default.
- W2081679672 cites W2064476671 @default.
- W2081679672 cites W2068341540 @default.
- W2081679672 cites W2082065853 @default.
- W2081679672 cites W2082446278 @default.
- W2081679672 cites W2083367404 @default.
- W2081679672 cites W2092762214 @default.
- W2081679672 cites W2128924278 @default.
- W2081679672 doi "https://doi.org/10.1359/jbmr.2002.17.11.1945" @default.
- W2081679672 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12412800" @default.
- W2081679672 hasPublicationYear "2002" @default.
- W2081679672 type Work @default.
- W2081679672 sameAs 2081679672 @default.
- W2081679672 citedByCount "17" @default.
- W2081679672 countsByYear W20816796722016 @default.
- W2081679672 countsByYear W20816796722018 @default.
- W2081679672 countsByYear W20816796722019 @default.
- W2081679672 countsByYear W20816796722020 @default.
- W2081679672 countsByYear W20816796722021 @default.
- W2081679672 countsByYear W20816796722022 @default.
- W2081679672 crossrefType "journal-article" @default.
- W2081679672 hasAuthorship W2081679672A5025696454 @default.
- W2081679672 hasAuthorship W2081679672A5039377198 @default.
- W2081679672 hasAuthorship W2081679672A5057531302 @default.
- W2081679672 hasAuthorship W2081679672A5069086962 @default.
- W2081679672 hasAuthorship W2081679672A5078696360 @default.
- W2081679672 hasAuthorship W2081679672A5079832439 @default.
- W2081679672 hasBestOaLocation W20816796721 @default.
- W2081679672 hasConcept C104317684 @default.
- W2081679672 hasConcept C143065580 @default.
- W2081679672 hasConcept C153911025 @default.
- W2081679672 hasConcept C160160445 @default.
- W2081679672 hasConcept C181199279 @default.
- W2081679672 hasConcept C185592680 @default.
- W2081679672 hasConcept C187882448 @default.
- W2081679672 hasConcept C2778471162 @default.
- W2081679672 hasConcept C54009773 @default.
- W2081679672 hasConcept C55493867 @default.
- W2081679672 hasConcept C86803240 @default.
- W2081679672 hasConceptScore W2081679672C104317684 @default.
- W2081679672 hasConceptScore W2081679672C143065580 @default.
- W2081679672 hasConceptScore W2081679672C153911025 @default.
- W2081679672 hasConceptScore W2081679672C160160445 @default.
- W2081679672 hasConceptScore W2081679672C181199279 @default.
- W2081679672 hasConceptScore W2081679672C185592680 @default.
- W2081679672 hasConceptScore W2081679672C187882448 @default.
- W2081679672 hasConceptScore W2081679672C2778471162 @default.
- W2081679672 hasConceptScore W2081679672C54009773 @default.
- W2081679672 hasConceptScore W2081679672C55493867 @default.
- W2081679672 hasConceptScore W2081679672C86803240 @default.
- W2081679672 hasIssue "11" @default.
- W2081679672 hasLocation W20816796721 @default.
- W2081679672 hasLocation W20816796722 @default.
- W2081679672 hasOpenAccess W2081679672 @default.
- W2081679672 hasPrimaryLocation W20816796721 @default.
- W2081679672 hasRelatedWork W2009464217 @default.
- W2081679672 hasRelatedWork W2081679672 @default.
- W2081679672 hasRelatedWork W2154682743 @default.
- W2081679672 hasRelatedWork W2352258017 @default.
- W2081679672 hasRelatedWork W2384261171 @default.
- W2081679672 hasRelatedWork W2386240997 @default.
- W2081679672 hasRelatedWork W2410597369 @default.
- W2081679672 hasRelatedWork W2411911332 @default.
- W2081679672 hasRelatedWork W2416204398 @default.
- W2081679672 hasRelatedWork W2909631400 @default.
- W2081679672 hasVolume "17" @default.
- W2081679672 isParatext "false" @default.
- W2081679672 isRetracted "false" @default.
- W2081679672 magId "2081679672" @default.
- W2081679672 workType "article" @default.