FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4284693492> ?p ?o ?g. }

• W4284693492 endingPage "10" @default.
• W4284693492 startingPage "1" @default.
• W4284693492 abstract "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder and is caused by G6PD gene mutations. To date, more than 400 variants in the G6PD gene have been discovered, and about 160 identified variants are associated with a significant decrease in the G6PD enzyme activity. However, the molecular characterization and epidemiological study of G6PD deficiency are still limited in Vietnam. Therefore, we conducted this study to determine the G6PD variants among the Vietnamese populations and evaluate their correlation to G6PD enzyme activity. A total of 339 patients (302 males and 37 females) were enrolled in this study. The G6PD variants were identified by Sanger sequencing. Our results indicate that males are more severely deficient in G6PD than females. This enzyme activity in males (1.27 ± 1.06 IU/g·Hb) is significantly lower than in females (2.98 ± 1.57 IU/g·Hb) (p < 0.0001). The enzyme activity of the heterozygous-homozygous females and heterozygous females-hemizygous males was found to be significantly different (p < 0.05), which is interpreted due to random X-inactivation. For G6PD molecular characteristics, Viangchan (c.871G>A), Canton (c.1376G>T) and Kaiping (c.1388G>A) variants were the most dominant, accounting for 24.48%, 17.70%, and 22.42%, respectively, whereas the highest frequency of complex variants was observed in Viangchan/Silent with 20.35%. In terms of G6PD activity, the Union variant presented the lowest mean value (1.03 IU/g·Hb) compared to the other variants (p < 0.05). Computational analysis using Polyphen-2 tool investigated that all variants were relative to G6PD deficiency and separated the levels as benign and damaged. The result will establish effective methods to screen G6PD variants in Vietnam." @default.
• W4284693492 created "2022-07-08" @default.
• W4284693492 creator A5020111547 @default.
• W4284693492 creator A5020834603 @default.
• W4284693492 creator A5028595593 @default.
• W4284693492 creator A5047692016 @default.
• W4284693492 creator A5066311996 @default.
• W4284693492 creator A5080839592 @default.
• W4284693492 creator A5082789381 @default.
• W4284693492 creator A5083632994 @default.
• W4284693492 creator A5087586515 @default.
• W4284693492 date "2022-07-05" @default.
• W4284693492 modified "2023-10-01" @default.
• W4284693492 title "Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam" @default.
• W4284693492 cites W1563291884 @default.
• W4284693492 cites W162385222 @default.
• W4284693492 cites W1846083992 @default.
• W4284693492 cites W1971645533 @default.
• W4284693492 cites W1991975588 @default.
• W4284693492 cites W2000412712 @default.
• W4284693492 cites W2019503978 @default.
• W4284693492 cites W2025634999 @default.
• W4284693492 cites W2036013202 @default.
• W4284693492 cites W2037109680 @default.
• W4284693492 cites W2039428309 @default.
• W4284693492 cites W2041711732 @default.
• W4284693492 cites W2059004124 @default.
• W4284693492 cites W2059145105 @default.
• W4284693492 cites W2062031364 @default.
• W4284693492 cites W2065199422 @default.
• W4284693492 cites W2066842789 @default.
• W4284693492 cites W2072325467 @default.
• W4284693492 cites W2072381305 @default.
• W4284693492 cites W2075486149 @default.
• W4284693492 cites W2077068003 @default.
• W4284693492 cites W2082525341 @default.
• W4284693492 cites W2083027212 @default.
• W4284693492 cites W2087215841 @default.
• W4284693492 cites W2088888368 @default.
• W4284693492 cites W2090860030 @default.
• W4284693492 cites W2121243162 @default.
• W4284693492 cites W2133367241 @default.
• W4284693492 cites W2150393339 @default.
• W4284693492 cites W2164940259 @default.
• W4284693492 cites W2168630917 @default.
• W4284693492 cites W2333947659 @default.
• W4284693492 cites W2534068746 @default.
• W4284693492 cites W2555141287 @default.
• W4284693492 cites W2560259923 @default.
• W4284693492 cites W2566715345 @default.
• W4284693492 cites W2568517445 @default.
• W4284693492 cites W2603831391 @default.
• W4284693492 cites W2747420658 @default.
• W4284693492 cites W2774644390 @default.
• W4284693492 cites W2781989320 @default.
• W4284693492 cites W2789933043 @default.
• W4284693492 cites W2794079675 @default.
• W4284693492 cites W2871523635 @default.
• W4284693492 cites W2884073699 @default.
• W4284693492 cites W2887613607 @default.
• W4284693492 cites W2891104345 @default.
• W4284693492 cites W2911846627 @default.
• W4284693492 cites W2971655366 @default.
• W4284693492 cites W2994897143 @default.
• W4284693492 cites W2995767269 @default.
• W4284693492 cites W3092019831 @default.
• W4284693492 cites W3097279013 @default.
• W4284693492 cites W3113950447 @default.
• W4284693492 cites W3127724389 @default.
• W4284693492 cites W3127756762 @default.
• W4284693492 cites W3199691292 @default.
• W4284693492 cites W925209857 @default.
• W4284693492 cites W2066681395 @default.
• W4284693492 doi "https://doi.org/10.1155/2022/2653089" @default.
• W4284693492 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35845714" @default.
• W4284693492 hasPublicationYear "2022" @default.
• W4284693492 type Work @default.
• W4284693492 citedByCount "0" @default.
• W4284693492 crossrefType "journal-article" @default.
• W4284693492 hasAuthorship W4284693492A5020111547 @default.
• W4284693492 hasAuthorship W4284693492A5020834603 @default.
• W4284693492 hasAuthorship W4284693492A5028595593 @default.
• W4284693492 hasAuthorship W4284693492A5047692016 @default.
• W4284693492 hasAuthorship W4284693492A5066311996 @default.
• W4284693492 hasAuthorship W4284693492A5080839592 @default.
• W4284693492 hasAuthorship W4284693492A5082789381 @default.
• W4284693492 hasAuthorship W4284693492A5083632994 @default.
• W4284693492 hasAuthorship W4284693492A5087586515 @default.
• W4284693492 hasBestOaLocation W42846934921 @default.
• W4284693492 hasConcept C104317684 @default.
• W4284693492 hasConcept C126322002 @default.
• W4284693492 hasConcept C127716648 @default.
• W4284693492 hasConcept C135763542 @default.
• W4284693492 hasConcept C181199279 @default.
• W4284693492 hasConcept C28212737 @default.
• W4284693492 hasConcept C501734568 @default.
• W4284693492 hasConcept C54355233 @default.
• W4284693492 hasConcept C55493867 @default.

• next