| 1 | G6PD, G6PDD
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| Hepatic transcriptional profiling response to fava bean-induced oxidative stress in glucose-6-phosphate dehydrogenase-deficient mice.
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| Du G, Xiao M, Wei X, Zhou C, Li S, Cai W.
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| Gene 652:66-77. doi: 10.1016/j.gene.2018.02.014. Epub 2018 Feb 8.
2018
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| 2 | G6PD, G6PDD
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| Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.
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| Cunningham AD, Colavin A, Huang KC, Mochly-Rosen D.
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| Cell Rep 18(11):2592-2599. doi: 10.1016/j.celrep.2017.02.048.
2017
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| 3 | G6PD, G6PDD
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| Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.
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| Gómez-Manzo S, Marcial-Quino J, Vanoye-Carlo A, Serrano-Posada H, Ortega-Cuellar D, González-Valdez A, Castillo-Rodríguez RA, Hernández-Ochoa B, Sierra-Palacios E, Rodríguez-Bustamante E, Arreguin-Espinosa R.
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| Int J Mol Sci 17(12). pii: E2069. Review.
2016
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| 4 | G6PD, G6PDD
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| The stability of G6PD is affected by mutations with different clinical phenotypes.
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| Gómez-Manzo S, Terrón-Hernández J, De la Mora-De la Mora I, González-Valdez A, Marcial-Quino J, García-Torres I, Vanoye-Carlo A, López-Velázquez G, Hernández-Alcántara G, Oria-Hernández J, Reyes-Vivas H, Enríquez-Flores S.
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| Int J Mol Sci 15(11):21179-201. doi: 10.3390/ijms151121179.
2014
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| 5 | G6PD, G6PDD
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| DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.
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| Wang J, Xiao QZ, Chen YM, Yi S, Liu D, Liu YH, Zhang CM, Wei XF, Zhou YQ, Zhong XM, Zhao CY, Xiong F, Wei XC, Xu XM.
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| Blood Cells Mol Dis 53(4):241-5. doi: 10.1016/j.bcmd.2014.06.001. Epub 2014 Jun 21.
2014
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| 6 | G6PD, G6PDD
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| DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.
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| Wang J, Xiao QZ, Chen YM, Yi S, Liu D, Liu YH, Zhang CM, Wei XF, Zhou YQ, Zhong XM, Zhao CY, Xiong F, Wei XC, Xu XM.
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| Blood Cells Mol Dis 53(4):241-5. doi: 10.1016/j.bcmd.2014.06.001. Epub 2014 Jun 21.
2014
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| 7 | G6PD, G6PDD
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| Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells.
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| Makarona K, Caputo VS, Costa JR, Liu B, O'Connor D, Iskander D, Roper D, Robertson L, Bhatnagar N, Terpos E, Georgiou E, Papaioannou M, Layton DM, Luzzatto L, Roberts I, Karadimitris A.
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| Blood 124(1):134-41. doi: 10.1182/blood-2014-02-553792. Epub 2014 May 7.
2014
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| 8 | G6PD, G6PDD
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| Association of homozygous sickle cell anemia and glucose-6-phosphate dehydrogenase deficiency.
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| Lesesve JF, Perrin J.
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| Eur J Haematol 88(4):370. doi: 10.1111/j.1600-0609.2011.01737.x. Epub 2012 Jan 4. No abstract available.
2012
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| 9 | G6PD, G6PDD
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| Association of G6PD with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia.
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| Nouraie M, Reading NS, Campbell A, Minniti CP, Rana SR, Luchtman-Jones L, Kato GJ, Gladwin MT, Castro OL, Prchal JT, Gordeuk VR.
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| Br J Haematol 150(2):218-25. doi: 10.1111/j.1365-2141.2010.08215.x. Epub 2010 May 9.
2010
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| 10 | G6PDD
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| The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.
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| Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E.
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| Blood Cells Mol Dis 42(3):267-78. Epub 2009 Feb 23. Review.
2009
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| 11 | G6PD, G6PDD
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| Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance.
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| Tishkoff SA, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro-Bisol G, Drousiotou A, Dangerfield B, Lefranc G, Loiselet J, Piro A, Stoneking M, Tagarelli A, Tagarelli G, Touma EH, Williams SM, Clark AG.
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| Science 293(5529):455-62. 2001
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| 12 | G6PD, G6PDD, GBTS, UGT1A1
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| Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.
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| Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E.
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| Proc Natl Acad Sci U S A 94(22):12128-32. 1997
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| 13 | G6PD, G6PDD
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| Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.
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| Vulliamy T, et al.
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| Hum Mutat 8 : 311-318. 1996
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| 14 | G6PD, G6PDD
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| Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain : identification of two new point mutations in the G6PD gene.
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| Rovira A, et al.
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| Br J Haematol 91 : 66-71. 1995
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| 15 | G6PD, G6PDD
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| Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.
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| Lei KJ, et al.
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| J Clin Invest 93 : 1994-1999. 1994
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| 16 | G6PD, G6PDD
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| Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene.
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| Chiu DTY, et al.
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| Blood 81 : 2150-2154. 1993
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| 17 | G6PD, G6PDD
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| Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan.
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| Hirono A, et al.
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| Hum Genet 91 : 507-508. 1993
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| 18 | G6PD, G6PDD
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| G6PD haplotypes spanning Xq28 from F8C to red/green color vision.
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| Filosa S, et al.
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| Genomics 17 : 6-14. 1993
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| 19 | G6PD, G6PDD
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| Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.
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| Vulliamy T, et al.
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| Hum Mutat 2 : 159-167. 1993
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| 20 | G6PD, G6PDD
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| Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia.
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| Hirono A, et al.
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| Hum Genet 88 : 347-348. 1992
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| 21 | G6PD, G6PDD
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| Molecular heterogeneity underlying the G6PD Mediterranean phenotype.
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| Corcoran CM, et al.
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| Hum Genet 88 : 688-690. 1992
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| 22 | G6PD, G6PDD
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| New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.
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| Beutler E, et al.
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| Blood 80 : 255-256. 1992
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| 23 | G6PD, G6PDD
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| Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan.
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| Tang TK, et al.
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| Blood 79 : 2135-2140. 1992
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| 24 | G6PD, G6PDD
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| Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites : five mutations account for most G6PD deficiency cases in Taiwan.
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| Chang JG, et al.
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| Blood 80 : 1079-1082. 1992
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| 25 | G6PD, G6PDD
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| A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.
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| Chao L, et al.
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| Nucleic Acids Res 19 : 6056. 1991
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| 26 | G6PD, G6PDD
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| Glucose-6-phosphate dehydrogenase deficiency.
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| Beutler E.
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| N Engl J Med 324 : 169-174. 1991
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| 27 | G6PD, G6PDD
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| The NT 1311 polymorphism of G6PD : G6PD Mediterranean mutation may have originated independently in Europe and Asia.
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| Beutler E, et al.
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| Am J Hum Genet 47 : 1008-1012. 1990
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| 28 | G6PD, G6PDD
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| Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A-mutation.
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| Beutler E, et al.
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| Hum Genet 85 : 9-11. 1990
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| 29 | G6PD, G6PDD
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| G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg-Leu mutation.
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| Stevens DJ, et al.
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| Nucleic Acids Res 18 : 7190. 1990
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