Matches in SemOpenAlex for { <https://semopenalex.org/work/W2346653694> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2346653694 abstract "Abstract Background Down syndrome (DS), also called as trisomy 21, is one of the most leading cause of intellectual disability. DS is associated with a number of phenotypes including Congenital Heart Disease (CHD), Leukemia, Alzheimer’s disease, Hirschsprung’s disease and others. DS affects about 1 in 700 live births. Objectives The study aims to investigate the association of MTRR ( Methionine synthase reductase ) gene polymorphisms (C524T and A66G) with the risk of CHD in DS patients. Methods PCR and PCR-RFLP methods were used for the genotyping of study samples and results were validated using Sanger’s sequencing. Results MTRR C524T and A66G were significantly associated with the increased risk of CHD in DS. We have also reported two novel polymorphisms, T19775C and 19778_19778delG, in DS with CHD cases with a frequency of 93% and 40%, respectively. These two polymorphisms were not found among DS without CHD group. Conclusion Results from this study indicate that the MTRR C524T and A66G polymorphisms influence the risk of the occurrence of CHD in DS patients of Indian Origin. This is the first report from India highlighting the potential association of MTRR C524T and A66G polymorphisms with CHD in DS. We are also the first one to report two novel polymorphisms, T19775C and 19778_19778delG in DS with CHD group. Hence these four polymorphisms can be used to evaluate the risk of CHD in DS patients." @default.
- W2346653694 created "2016-06-24" @default.
- W2346653694 creator A5023047588 @default.
- W2346653694 creator A5061621579 @default.
- W2346653694 date "2017-01-01" @default.
- W2346653694 modified "2023-09-28" @default.
- W2346653694 title "MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin" @default.
- W2346653694 cites W1498861183 @default.
- W2346653694 cites W1587246273 @default.
- W2346653694 cites W1972606944 @default.
- W2346653694 cites W1972990888 @default.
- W2346653694 cites W1992914659 @default.
- W2346653694 cites W1996314722 @default.
- W2346653694 cites W2012517517 @default.
- W2346653694 cites W2017399145 @default.
- W2346653694 cites W2025755447 @default.
- W2346653694 cites W2048891955 @default.
- W2346653694 cites W2050130395 @default.
- W2346653694 cites W2085392953 @default.
- W2346653694 cites W2093513693 @default.
- W2346653694 cites W2102995490 @default.
- W2346653694 cites W2103351111 @default.
- W2346653694 cites W2137993938 @default.
- W2346653694 cites W2169514187 @default.
- W2346653694 cites W2513794401 @default.
- W2346653694 cites W2116242790 @default.
- W2346653694 doi "https://doi.org/10.1016/j.ejmhg.2016.02.006" @default.
- W2346653694 hasPublicationYear "2017" @default.
- W2346653694 type Work @default.
- W2346653694 sameAs 2346653694 @default.
- W2346653694 citedByCount "2" @default.
- W2346653694 countsByYear W23466536942021 @default.
- W2346653694 countsByYear W23466536942022 @default.
- W2346653694 crossrefType "journal-article" @default.
- W2346653694 hasAuthorship W2346653694A5023047588 @default.
- W2346653694 hasAuthorship W2346653694A5061621579 @default.
- W2346653694 hasBestOaLocation W23466536941 @default.
- W2346653694 hasConcept C104317684 @default.
- W2346653694 hasConcept C126322002 @default.
- W2346653694 hasConcept C135763542 @default.
- W2346653694 hasConcept C2778087339 @default.
- W2346653694 hasConcept C2779954681 @default.
- W2346653694 hasConcept C31467283 @default.
- W2346653694 hasConcept C43563269 @default.
- W2346653694 hasConcept C54355233 @default.
- W2346653694 hasConcept C71924100 @default.
- W2346653694 hasConcept C86803240 @default.
- W2346653694 hasConceptScore W2346653694C104317684 @default.
- W2346653694 hasConceptScore W2346653694C126322002 @default.
- W2346653694 hasConceptScore W2346653694C135763542 @default.
- W2346653694 hasConceptScore W2346653694C2778087339 @default.
- W2346653694 hasConceptScore W2346653694C2779954681 @default.
- W2346653694 hasConceptScore W2346653694C31467283 @default.
- W2346653694 hasConceptScore W2346653694C43563269 @default.
- W2346653694 hasConceptScore W2346653694C54355233 @default.
- W2346653694 hasConceptScore W2346653694C71924100 @default.
- W2346653694 hasConceptScore W2346653694C86803240 @default.
- W2346653694 hasLocation W23466536941 @default.
- W2346653694 hasOpenAccess W2346653694 @default.
- W2346653694 hasPrimaryLocation W23466536941 @default.
- W2346653694 hasRelatedWork W1271456425 @default.
- W2346653694 hasRelatedWork W1857483846 @default.
- W2346653694 hasRelatedWork W2044701820 @default.
- W2346653694 hasRelatedWork W2048891955 @default.
- W2346653694 hasRelatedWork W2112311229 @default.
- W2346653694 hasRelatedWork W2128616270 @default.
- W2346653694 hasRelatedWork W2144947037 @default.
- W2346653694 hasRelatedWork W2211566593 @default.
- W2346653694 hasRelatedWork W2350361063 @default.
- W2346653694 hasRelatedWork W2466748152 @default.
- W2346653694 hasRelatedWork W2473613319 @default.
- W2346653694 hasRelatedWork W254048632 @default.
- W2346653694 hasRelatedWork W2611254499 @default.
- W2346653694 hasRelatedWork W2730556650 @default.
- W2346653694 hasRelatedWork W2897359393 @default.
- W2346653694 hasRelatedWork W2913697423 @default.
- W2346653694 hasRelatedWork W2914626874 @default.
- W2346653694 hasRelatedWork W3038084381 @default.
- W2346653694 hasRelatedWork W3186679239 @default.
- W2346653694 hasRelatedWork W3208136959 @default.
- W2346653694 isParatext "false" @default.
- W2346653694 isRetracted "false" @default.
- W2346653694 magId "2346653694" @default.
- W2346653694 workType "article" @default.