Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18215251 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18164966 |
Whereas the frequency of beta-thalassemia minor among Moslems is higher than in the Jews in Shiraz, the frequency of G6PD deficiency was not significantly different in the two populations. |
| 12497642 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12641410 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12680285 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12696079 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12972027 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15282679 |
Observational study of genetic testing. (HuGE Navigator) |
| 15307413 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15315792 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 15330559 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15558953 |
Observational study of gene-environment interaction, pharmacogenomic / toxicogenomic, and genetic testing. (HuGE Navigator) |
| 15718915 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 15727905 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15748456 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15766741 |
Observational study of genetic testing. (HuGE Navigator) |
| 15906719 |
Observational study of genetic testing. (HuGE Navigator) |
| 15914531 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16059744 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16136268 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16137669 |
Observational study of genetic testing. (HuGE Navigator) |
| 16155737 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16272653 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16331553 |
Observational study of genetic testing. (HuGE Navigator) |
| 16356170 |
Observational study of genetic testing. (HuGE Navigator) |
| 16461316 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16532971 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16569302 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16637741 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16792831 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16859949 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17007653 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17018380 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17077204 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17264545 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17499234 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17557555 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17587269 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 18164966 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18173836 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11024211 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11042039 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 11499668 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11793482 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11876979 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11877026 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12380870 |
Observational study of gene-disease association and genetic testing. (HuGE Navigator) |
| 12439228 |
Observational study of gene-gene interaction. (HuGE Navigator) |
| 17611006 |
biochemical and clinical effect of variants and discussion of the relationship between genotype and phenotype [review] |
| 17653668 |
prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population of Southwestern China; a new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, was identified |
| 17660836 |
In hematopoietic stem cell transplantationfemale donors heterozygous for X-linked recessive disorders, altered G6PD may cause clinical diseases in the recipients. |
| 17587269 |
study found that the nucleotide substitutions associated with G6PD deficiency in Chinese subjects are distinctly different from those associated with G6PD deficiency in other ethnic groups |
| 17524386 |
A novel genetic mutation (G130A) in the third exon was found in a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate dehydrogenase (G6PD) activity. |
| 16483869 |
Microtubule motor proteins colocalize with G6PDase; microtubule motor proteins participate in hexose monophosphate shunt enzyme transport within leukocytes. |
| 15315792 |
genetic diversity of enzyme forms in GPD deficiency in India. |
| 12972027 |
4% of males in the Kuwaiti population have G6PD deficiency coexisting with low activity of the UDPGT1 promoter |
| 12497642 |
Mutational analysis of G6PD variants in Malaysian Malays with G6PD deficiency. |
| 15506519 |
Review. Nearly 150 different G6PD variants have been described. The recent determination of its 3-dimensional structure explains the mechanisms of G6PD deficiency in terms of structure-function relationship. |
| 16607506 |
Arg459 and Arg463 play important roles in anchoring NADP+ to the catalytic domain, sequence from codon 459 to the carboxyl terminal is essential for the enzymatic function. |
| 15466166 |
uncommon splice site mutation causes enzyme deficiency |
| 11852882 |
A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. |
| 12588050 |
Significant difference in distribution of G6PD activities as grouped by an increment of 100 U/10(12) red blood cells (RBCs) was observed between diabetic patients and healthy subjects. |
| 15864125 |
UGT1A1, OATP2 and G6PD genes have roles in genetic predisposition to unconjugated hyperbilirubinemia |
| 15906717 |
G6PD Viangchan and G6PD Mediterranean account for the main variants in G6PD deficiency among the Malay population in Malaysia. |
| 11874436 |
a candidate gene for diabetes |
| 12768444 |
G6PD deficiency was studied in Nepalese males. |
| 12130518 |
Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. |
| 14614139 |
distribution of erythrocyte G6PD activity in human populations reveals a selective pressure for maintaining high activity |
| 14757424 |
identified two de novo missense mutations in patients with severe G6PD deficiency as sites Pro409 and Val431, located on different subunits, that interact directly across the subunit interface and perturb formation of the G6PD dimer upon mutation |
| 14757426 |
gene 1226 C-->G mutation in a chronic nonspherocytic hemolytic anemia patient causes significant differences in Km values and enzyme stability, by changing tetramer interactions and disturbing the binding of structural NADP+ |
| 12616531 |
HPRT and G6PD origins of replication that are functional in the active X chromosome are utilized even when the two genes are transcriptionally silent in the inactive X chromosome. |
| 15727905 |
G6PD Viangchan and Mahidol are common Southeast Asian variants and support the theory of genetic drifts throughout Southeast Asia. |
| 15957246 |
Mediterranean mutation at nt 563(C-->T) is predominant in the Iran's Golestan province (69%) and 26.7% of patients have Chatham mutation at nt 1003(G-->A) |
| 11920200 |
31 alleles carrying the betaS mutation, 6 beta-thalassaemic alleles & 17 G6PD alleles, were studied from a group of carriers or affected subjects. Allele frequencies were 3% for haemoglobin S, 1% for beta-thalassaemia trait and 9.5% for G6PD deficiency. |
| 12378426 |
nucleotide diversity across a 5.2-kb region of G6PD in a sample of 160 Africans and 56 non-Africans, to determine how selection has shaped patterns of DNA variation at this gene |
| 15659240 |
We have shown two distinct CREB-responsive sites in the glucose-6-phosphatase gene promoter that are responding to a constitutively active CREB or elevated concentrations of the catalytic subunit of cAMP-dependent protein kinase in the nucleus. |
| 16934959 |
These results, together with structural information, suggest that the instability of the R393H protein, enhanced by the weakened binding of "structural" NADP+, is the likely cause of the severe clinical manifestation observed for G6PD(Nashville). |
| 15223006 |
determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus; one previously undescribed mutation in exon 3, 148C-->T (Pro50Ser), was found |
| 16143877 |
A novel variant, named G6PD Split, is caused by a nucleotide change 1442 C-->G leading to the amino acid substitution 481 Pro-->Arg and is characterized by moderate enzyme deficiency (class III variant). |
| 12850494 |
screening a Mexican population identified new mutations located at cDNA nt 376 A --> T (126 Asn --> Tyr), nt 770 G --> T (257 Arg --> Leu), nt 1094 G --> A (365 Arg --> His), and nt 1285 A --> G (429 Lys --> Glu) |
| 12135480 |
Recombinant human glucose-6-phosphate dehydrogenase uses a rapid-equilibrium random-order mechanism for substrate binding. |
| 12524354 |
Nucleotide variability at G6pd and the signature of malarial selection in humans. |
| 16944148 |
Novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia. |
| 17499234 |
Three different major polymorphic variants were found in Iran: G6PD Mediterranean 75.4% (187 out of 248), G6PD Chatham 19.76% (49 out of 248), G6PD Cosenza 2.02% (5 out of 248) and 7 samples out of 248 remained unknown. |
| 17557555 |
results do not confirm an association either positive or negative between the G6PD polymorphism and lymphoma risk. |
| 12737938 |
the association of G6PD Sumare and G6PD A- in a compound heterozygote gave rise to a very mild chronic hemolysis, and the red cell population containing G6PD A- is probably enough to protect against severe chronic hemolysis |
| 12737940 |
Molecular characterization of G6PD Insuli--a novel 989 CGC --> CAC (330 Arg --> His) mutation in exon 9 in the Indian population with normal enzyme activity |
| 12737943 |
This study suggests that the metabolic consequences of a combined deficiency of GPI and G6PD might be responsible for a different clinical outcome, severe congenital hemolytic anemia, than predicted for either defect in isolation. |
| 16088936 |
analysis of disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus) |
| 11793482 |
DNA mutational analysis in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population |
| 15598086 |
Based on the increased susceptibility of G6PD-deficient patients to oxidative stress, an increase in Se-GSH-Px activity can facilitate the detoxification of reactive oxygen species. |
| 15914531 |
G6PD deficiency alone is not causative of diabetic ketosis and alterations in genes controlling both insulin secretion and G6PD-mediated antioxidant defenses may contribute to the predisposition in West Africans |
| 16155737 |
G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population. |
| 16927025 |
analysis of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia |
| 12921788 |
glycolaldehyde inactivates glucose-6-phosphate dehydrogenase, glyceraldehyde-3-phosphate dehydrogenase, and Cu,Zn superoxide dismutase, suppresses cell growth, and induces apoptosis. |
