PharmGKB summary: very important pharmacogene information for G6PD
暂无分享,去创建一个
Russ B Altman | Caroline F Thorn | Teri E Klein | José M Bautista | Ellen M McDonagh | R. Altman | E. McDonagh | C. Thorn | T. Klein | J. Bautista | I. Youngster | Ilan Youngster
[1] B. Migeon,et al. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. , 1980, Proceedings of the National Academy of Sciences of the United States of America.
[2] L. Luzzatto,et al. Glucose-6-phosphate dehydrogenase and malaria. Greater resistance of females heterozygous for enzyme deficiency and of males with non-deficient variant. , 1972, Lancet.
[3] L. Botigué,et al. G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa) , 2007, Human biology.
[4] David Schellenberg,et al. A Research Agenda for Malaria Eradication: Diagnoses and Diagnostics , 2011, PLoS medicine.
[5] Ernest Beutler,et al. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. , 2009, Blood cells, molecules & diseases.
[6] H. Fujii,et al. A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. , 2002, Blood.
[7] E. Beutler,et al. Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[8] A. Mancuso,et al. p53 regulates biosynthesis through direct inactivation of glucose-6-phosphate dehydrogenase , 2011, Nature Cell Biology.
[9] G. Battistuzzi,et al. Glucose-6-phosphate dehydrogenase. , 1985, Advances in human genetics.
[10] D. Swallow,et al. Protein Dysfunction in Human Genetic Disease , 1997 .
[11] F. Esamai,et al. Chlorproguanil−Dapsone−Artesunate versus Artemether−Lumefantrine: A Randomized, Double-Blind Phase III Trial in African Children and Adolescents with Uncomplicated Plasmodium falciparum Malaria , 2009, PloS one.
[12] R. Ravazzolo,et al. Haemolytic Effect of Two Sulphonamides Evaluated by a New Method , 1976, British journal of haematology.
[13] B. Ramot,et al. Haemolytic jaundice following aspirin administration to a patient with a deficiency of glucose-6-phosphate dehydrogenase in erythrocytes. , 1960, Acta haematologica.
[14] Y. Amitai,et al. Glucose-6-phosphate dehydrogenase deficiency severely restricts the biotransformation of daunorubicin in human erythrocytes. , 1996, The Journal of laboratory and clinical medicine.
[15] M. D'urso,et al. Structural analysis of the X‐linked gene encoding human glucose 6‐phosphate dehydrogenase. , 1986, The EMBO journal.
[16] M. Totani,et al. [Glucose-6-phosphate dehydrogenase]. , 1999, Nihon rinsho. Japanese journal of clinical medicine.
[17] E. Beutler,et al. The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. , 1990, American journal of human genetics.
[18] Virgil F. Fairbanks,et al. THE NORMAL HUMAN FEMALE AS A MOSAIC OF X-CHROMOSOME ACTIVITY: STUDIES USING THE GENE FOR G-6-PD-DEFICIENCY AS A MARKER , 1962 .
[19] R. Kletzien,et al. Glucose‐6‐phosphate dehydrogenase: a “housekeeping” enzyme subject to tissue‐specific regulation by hormones, nutrients, and oxidant stress , 1994, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[20] H. Fujii,et al. Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia , 2001, Human Genetics.
[21] H. Jörnvall,et al. Glucose-6-phosphate dehydrogenase. Characteristics revealed by the rat liver enzyme structure. , 1989, European journal of biochemistry.
[22] O. Müller,et al. Safety of the methylene blue plus chloroquine combination in the treatment of uncomplicated falciparum malaria in young children of Burkina Faso [ISRCTN27290841] , 2005, Malaria Journal.
[23] T. Vulliamy,et al. Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[24] E. Beutler,et al. Human red cell glucose-6-phosphate dehydrogenase: All active enzyme has sequence predicted by the X chromosome-encoded cDNA , 1990, Cell.
[25] Tizhen Yan,et al. Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations. , 2006, Haematologica.
[26] L. Luzzatto,et al. Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure. , 1976, The Journal of biological chemistry.
[27] Kounosuke Watabe,et al. Metabolic genes in cancer: their roles in tumor progression and clinical implications. , 2010, Biochimica et biophysica acta.
[28] J. Bautista,et al. G6PD deficiency: the genotype-phenotype association. , 2007, Blood reviews.
[29] Klaus Lindpaintner,et al. Pharmacogenetics and pharmacogenomics. , 2005, Methods in molecular medicine.
[30] M. D'urso,et al. Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region. , 1986, Nucleic acids research.
[31] E. Beutler,et al. Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A. , 1990, American journal of human genetics.
[32] L. Luzzatto. The rise and fall of the antimalarial Lapdap: a lesson in pharmacogenetics , 2010, The Lancet.
[33] B. Glader. Evaluation of the hemolytic role of aspirin in glucose-6-phosphate dehydrogenase deficiency. , 1976, The Journal of pediatrics.
[34] E. Andrès,et al. Glibenclamide-induced acute haemolytic anaemia revealing a G6PD-deficiency. , 2004, Diabetes research and clinical practice.
[35] P. Rosenthal,et al. Impact of the Method of G6PD Deficiency Assessment on Genetic Association Studies of Malaria Susceptibility , 2009, PloS one.
[36] E. Beutler,et al. Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissues. , 1989, The Journal of clinical investigation.
[37] E. Beutler,et al. Failure of methylene blue treatment in toxic methemoglobinemia. Association with glucose-6-phosphate dehydrogenase deficiency. , 1971, Annals of internal medicine.
[38] A. Yoshida,et al. A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+). , 1987, Genomics.
[39] Z. Spolarics,et al. Endotoxemia, pentose cycle, and the oxidant/antioxidant balance in the hepatic sinusoid , 1998, Journal of leukocyte biology.
[40] H. Notopuro,et al. Glucose-6-phosphate dehydrogenase deficiency. , 1972, Paediatrica Indonesiana.
[41] O. Doumbo,et al. X-Linked G6PD Deficiency Protects Hemizygous Males but Not Heterozygous Females against Severe Malaria , 2007, PLoS medicine.
[42] B. M. Greenwood,et al. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria , 1995, Nature.
[43] A. Motulsky,et al. Human glucose-6-phosphate dehydrogenase variants. , 1971, Bulletin of the World Health Organization.
[44] C. Naylor,et al. Amino acid substitutions at the dimer interface of human glucose-6-phosphate dehydrogenase that increase thermostability and reduce the stabilising effect of NADP. , 1998, European journal of biochemistry.
[45] R. J. Dern,et al. A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen). , 1969, The Journal of laboratory and clinical medicine.
[46] T. Vulliamy,et al. G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation. , 1990, Nucleic acids research.
[47] A. Yoshida,et al. A single amino Acid substitution (asparagine to aspartic Acid) between normal (b+) and the common negro variant (a+) of human glucose-6-phosphate dehydrogenase. , 1967, Proceedings of the National Academy of Sciences of the United States of America.
[48] S. Au,et al. Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency. , 2000, Structure.
[49] M. Rosemeyer,et al. Subunit interactions of glucose-6-phosphate dehydrogenase from human erythrocytes. , 1969, European journal of biochemistry.
[50] T. Ikuta,et al. Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[51] T. Bousema,et al. In Tanzania, Hemolysis after a Single Dose of Primaquine Coadministered with an Artemisinin Is Not Restricted to Glucose-6-Phosphate Dehydrogenase-Deficient (G6PD A−) Individuals , 2010, Antimicrobial Agents and Chemotherapy.
[52] E. Beutler,et al. The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker. , 1962, Proceedings of the National Academy of Sciences of the United States of America.
[53] A. Sagone,et al. The effect of BCNU and adriamycin on normal and G6PD deficient erythrocytes , 1979, American journal of hematology.
[54] P. Pandolfi,et al. Targeted disruption of the housekeeping gene encoding glucose 6‐phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defense against oxidative stress. , 1995, The EMBO journal.
[55] M. Cappellini,et al. G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype , 1994, Human Genetics.
[56] M. Rowland,et al. The Impact of Phenotypic and Genotypic G6PD Deficiency on Risk of Plasmodium vivax Infection: A Case-Control Study amongst Afghan Refugees in Pakistan , 2010, PLoS medicine.
[57] H. Frischer,et al. Severe generalized glutathione reductase deficiency after antitumor chemotherapy with BCNU" [1,3-bis(chloroethyl)-1-nitrosourea]. , 1977, The Journal of laboratory and clinical medicine.
[58] O. Müller,et al. Safety of the combination of chloroquine and methylene blue in healthy adult men with G6PD deficiency from rural Burkina Faso , 2005, Tropical medicine & international health : TM & IH.
[59] E. Beutler,et al. Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica , 1991, Human Genetics.
[60] E. Beutler,et al. The hemolytic effect of primaquine and related compounds: a review. , 1959, Blood.
[61] C. Clayman,et al. 4. TOXICITY OF PRIMAQUINE IN NEGROES , 1952 .
[62] T. Vulliamy,et al. Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme. , 1996, Blood.
[63] P. Carson,et al. Enzymatic deficiency in primaquine-sensitive erythrocytes. , 1956, Science.
[64] Charles Ja. Medical care today. , 1949 .
[65] M. Lacerda,et al. Clinical aspects of hemolysis in patients with P. vivax malaria treated with primaquine, in the Brazilian Amazon. , 2010, The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases.
[66] J. Bautista,et al. Stress response and cytoskeletal proteins involved in erythrocyte membrane remodeling upon Plasmodium falciparum invasion are differentially carbonylated in G6PD A- deficiency. , 2011, Free radical biology & medicine.
[67] H. Levy,et al. On the molecular weight of human glucose 6-phosphate dehydrogenase. , 1977, Biochemical and biophysical research communications.
[68] T. Liu,et al. Two commonly occurring nucleotide base substitutions in Chinese G6PD variants. , 1991, Biochemical and biophysical research communications.
[69] L. Forman,et al. Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[70] J. Prchal,et al. Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. Blood , 1989 .
[71] L Luzzatto,et al. Hematologically important mutations: glucose-6-phosphate dehydrogenase. , 1996, Blood cells, molecules & diseases.
[72] T. Vulliamy,et al. Human red cell glucose-6-phosphate dehydrogenase is encoded only on the X chromosome , 1990, Cell.
[73] B. Tekwani,et al. Cytochrome P(450)-dependent toxic effects of primaquine on human erythrocytes. , 2009, Toxicology and applied pharmacology.
[74] A. Yoshida,et al. 5' structure and expression of human glucose-6-phosphate dehydrogenase mRNA. , 1993, DNA and Cell Biology.
[75] T. Chan,et al. Characteristics and distribution of glucose-6-phosphate dehydrogenase-deficient variants in South China. , 1972, American journal of human genetics.
[76] M. Hammer,et al. The Extent of Linkage Disequilibrium Caused by Selection on G6PD in Humans , 2005, Genetics.
[77] Tina Hernandez-Boussard,et al. Doxorubicin pathways: pharmacodynamics and adverse effects , 2011, Pharmacogenetics and genomics.
[78] H. Kirkman,et al. A Chinese variant of glucose-6-phosphate dehydrogenase. , 1966, The Journal of laboratory and clinical medicine.
[79] B. Bain. A ghostly presence—G6PD deficiency , 2010, American journal of hematology/oncology.
[80] Kwaku Poku Asante,et al. An Open Label, Randomised Trial of Artesunate+Amodiaquine, Artesunate+Chlorproguanil-Dapsone and Artemether-Lumefantrine for the Treatment of Uncomplicated Malaria , 2008, PloS one.
[81] M. Berkovitch,et al. Medications and Glucose-6-Phosphate Dehydrogenase Deficiency , 2010, Drug safety.
[82] D. Labie,et al. HÆMOGLOBINOPATHIES AND G.-6-P.D. DEFICIENCY IN LAOS , 1978, The Lancet.
[83] F. Gómez-Gallego,et al. Structural Defects Underlying Protein Dysfunction in Human Glucose-6-phosphate Dehydrogenase A− Deficiency* , 2000, The Journal of Biological Chemistry.
[84] L. Manco,et al. Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman. , 2011, Blood cells, molecules & diseases.
[85] A. Yoshida,et al. Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. , 1970, Journal of molecular biology.
[86] C. Clayman,et al. Toxicity of primaquine in Caucasians. , 1952, Journal of the American Medical Association.
[87] J. A. Kruse,et al. Hemolysis and Methemoglobinemia Secondary to Rasburicase Administration , 2005, The Annals of pharmacotherapy.
[88] J. Spivak,et al. Commentary on and reprint of Beutler E, Yeh M, Fairbanks VF, The normal human female as a mosaic of X-chromosome activity: Studies using the gene for G-6-PD-deficiency as a marker, in Proceedings of the National Academy of Sciences (1962) 48:9–16 , 2000 .
[89] A. Gbakima,et al. G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A- , 2008, Journal of Human Genetics.
[90] J. Stockman,et al. Aspirin-induced Hemolysis: The Role of Concomitant Oxidant (H2O2) Challenge , 1978, Pediatric Research.
[91] T. Vulliamy,et al. Variants of glucose‐6‐phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene , 1993, Human mutation.
[92] A. Yoshida,et al. A glucose-6-phosphate dehydrogenase variant, Gd(-) Santamaria found in Costa Rica. , 1984, Acta haematologica.
[93] D. Toniolo,et al. Two point mutations are responsible for G6PD polymorphism in Sardinia. , 1989, American journal of human genetics.
[94] R. Khesin,et al. Molecular Genetics , 1968, Springer Berlin Heidelberg.
[95] C. Clayman,et al. Toxicity of primaquine in Negroes. , 1952, Journal of the American Medical Association.
[96] T. Meloni,et al. Glyburide‐induced acute haemolysis in a G6PD‐deficient patient with NIDDM , 1996, British journal of haematology.
[97] C. Clayman,et al. 3. TOXICITY OF PRIMAQUINE IN CAUCASIANS , 1952 .
[98] L. Luzzatto,et al. Red cell glucose‐6‐phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population , 2000, Tropical medicine & international health : TM & IH.
[99] A. Ghafary,et al. Drug-induced haemolysis and renal failure in children with glucose-6-phosphate dehydrogenase deficiency in Afghanistan. , 1990, Annals of tropical paediatrics.
[100] G. Forteleoni,et al. Aspirin-induced acute haemolytic anaemia in glucose-6-phosphate dehydrogenase-deficient children with systemic arthritis. , 1989, Acta haematologica.
[101] J. Kublin,et al. Comparison of chlorproguanil-dapsone with sulfadoxine-pyrimethamine for the treatment of uncomplicated falciparum malaria in young African children: double-blind randomised controlled trial , 2004, The Lancet.
[102] G. D. Campbell,et al. Letter: Ascorbic acid-induced hemolysis in G-6-PD deficiency. , 1975, Annals of internal medicine.
[103] M. D'urso,et al. Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[104] C. Karema,et al. High Risk of Severe Anaemia after Chlorproguanil-Dapsone+Artesunate Antimalarial Treatment in Patients with G6PD (A-) Deficiency , 2008, PloS one.
[105] A. Gehani,et al. [G6PD deficiency]. , 1974, Xianggang hu li za zhi. The Hong Kong nursing journal.
[106] G. Brittenham,et al. Safety and tolerability of elubaquine (bulaquine, CDRI 80/53) for treatment of Plasmidium vivax malaria in Thailand. , 2006, The Korean journal of parasitology.
[107] Pardis C Sabeti,et al. Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility , 2009, European Journal of Human Genetics.
[108] Y. Kan,et al. Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase , 1989, Cell.
[109] L. Luzzatto. Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype. , 2006, Haematologica.
[110] M. D'urso,et al. Common glucose‐6‐phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization , 1990, Annals of human genetics.