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REVIEW: association between AB blood group and neonatal disease
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Novel missense mutation (c.284 T>C) in the ABO gene associated with the Ael phenotype.
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Identification of a novel B allele with a nucleotide deletion (c.3_4 del G) in the ABO gene associated with a Bx phenotype individual.
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This study utilized (15) N side-chain labeling of Trp residues and (13) C-methyl labeling of Met residues to study substrate-induced conformational transitions of GTB. Donor or acceptor binding to GTB saturated with acceptor or donor substrate, respectively, is slow (<10 Hz), as are coupled protein motions, reflecting mutual allosteric control of donor and acceptor binding. Substrate binding drives active-site closing.
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Analyses of ABO genotypes revealed associations of AO and AB with risk of gastric cancer compared with OO genotype (meta-analysis).
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Data suggest simultaneous silencing of vascular endothelial growth factor (VEGF) and Survivin using the dual siRNA may be an advantageous alternative for the development of therapeutic strategies against human osteosarcoma.
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the major rs644234*T allele of ABO was associated with increased levels of soluble E-selectin
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ABO genotype does not modify any association between blood-type diets and biomarkers of cardiometabolic disease in overweight adults...
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Conserved residues Arg188 and Asp302 are critical for active site organization and catalysis in human ABO(H) blood group A and B glycosyltransferases.
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rs579459 and rs505922 within ABO gene and their interaction are associated with increased ischemic stroke risk in Chinese population
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These data suggest that single nucleotide polymorphisms ABO rs8176719 and FGG rs2066865 may contribute individually to the venous thromboembolism susceptibility in the Portuguese population.
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Bm5.8 deletion is a predominant allele accounting for 99.77% of the Bm alleles in the Japanese individuals with Bm and A1Bm phenotypes.
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A rare novel B allele was identified in a B variant. The mutation 518T > C may decrease the glycosyltransferase enzymatic activity and result in the weak B variant, with the presence of anti-B in serum.
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The data indicated that the transcription levels of the ABO gene changed with acute myeloid leukemia (AML) disease progression, suggesting its potential role in the progression of AML disease.
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the genetic variants in ABO gene may influence the risk of large artery atherosclerotic stroke in Chinese Han population.
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A Korean man and his two sons had an ABO mutation at nucleotide position 721 (C substituted by G), resulting in an amino acid change from arginine to glycine. This mutation may affect enzyme activity and/or protein expression.
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Kinetic analysis of GTA and GTB point mutants E303C, E303D, E303Q and E303A shows that despite the enzymes having nearly identical sequences, the corresponding mutants of GTA/GTB have up to a 13-fold difference in their residual activities relative to wild type
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an ABO exonic missense mutation affects B-antigen expression by decreasing the mRNA level of the ABO gene
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Binding either of the donor substrate UDP-Gal or of UDP induces a semiclosed conformation of blood group glycosyltransferases A and B.
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These results support the contention that ABO expression is dependent upon a downstream positive regulatory element functioning through a tissue-restricted transcription factor, Elf5, in epithelial cells.