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Article
G6PD deficiency and malaria selection
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Article
Persistence of expression of the TMPRSS2:ERG fusion gene after pre-surgery androgen ablation may be associated with early prostate specific antigen relapse of prostate cancer: Preliminary results
Background: The recently identified TM-PRSS2:ERG fusion gene is a candidate oncogene for prostate cancer (PCa). Subjects and methods: We have tested for the presence of this gene in tumor...
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Article
Prospective analysis of minimal bone marrow infiltration in pediatric Burkitt's lymphomas by long-distance polymerase chain reaction for t(8;14)(q24;q32)
The chromosomal translocation t(8;14)(q24;q32) represents a characteristic marker for Burkitt's lymphoma (BL). This translocation involves the MYC oncogene on chromosome 8 and the immunoglobulin heavy-chain (I...
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Article
Dynamics of hematopoiesis in paroxysmal nocturnal hemoglobinuria (PNH): no evidence for intrinsic growth advantage of PNH clones
PNH is characterized by expansion of one or more stem cell clones with a PIG-A mutation, which causes a severe deficiency in the expression of glycosylphosphatidylinositol (GPI)-anchored proteins. There is eviden...
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Article
The cellular pathogenesis of paroxysmal nocturnal haemoglobinuria
Paroxysmal nocturnal haemoglobinuria (PNH) is a unique disorder characterised by the triad of intravascular haemolysis, thrombosis and bone marrow failure. In the early seventies it was shown that PNH is a clo...
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Chapter and Conference Paper
Genetic Factors in Malaria Resistance
A classical representation of the causation of human diseases is one in which every disease has both an inherited and an acquired component; it is only the relative weights of the two components that vary. Inf...
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Article
Immuno gene therapy comes into its own
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Article
About hemoglobins, G6PD and parasites in red cells
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Article
Paroxysmal nocturnal hemoglobinuria: Correction of abnormal phenotype by somatic cell hybridization
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired blood disorder thought to result from a somatic mutation in a hemopoietic stem cell. PNH may evolve to aplastic anemia or to acute leukemia. PNH cells a...
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Article
Molecular heterogeneity underlying the G6PD Mediterranean phenotype
As part of a study aiming to define the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we analysed a sample from a Portugese boy with a family history of favism. Although the biochemic...
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Article
Intragenic interspecific complementation of glucose 6-phosphate dehydrogenase in human-hamster cell hybrids
A new variant of human glucose 6-phosphate dehydrogenase (G6PD), provisionally designated G6PD Harilaou, was observed in a Greek boy affected by severe hemolytic anemia. G6PD Harilaou was associated with very ...
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Article
A simple disease with no cure
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Article
Adaptation of Plasmodium falciparum to glucose 6-phosphate dehydrogenase-deficient host red cells by production of parasite-encoded enzyme
There is impressive evidence from geographical data1,2, studies in the field3 and in vitro culture work4–6 that genetically determined deficiency of glucose 6-phosphate dehydrogenase (G6PD) confers relative prote...
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Chapter
Glucose-6-Phosphate Dehydrogenase
Genetic systems have been of interest to human genetics mainly because they exhibit polymorphism in various populations, and therefore seem to be relevant to human evolution, or because they are associated wit...
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Article
cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322
Glucose 6-phosphate dehydrogenase (G6PD) catalyses the first reaction of the so-called oxidative pathway of glucose metabolism1. In many cells, in addition to providing pentose sugars required for nucleic acid sy...
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Article
Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency in Sardinia
Glucose 6-phosphate dehydrogenase (G6PD) activity was assayed quantitatively in red cells from 100 consecutive G6PD-deficient newborn male babies born in a city hospital in Sassari, Sardinia. In four cases G6P...
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Article
Relationship between the Genes for Glucose-6-phosphate Dehydrogenase and for Haemoglobin in a Nigerian Population
VARIOUS contrasting data have been published concerning the incidence of glucose-6-phosphate dehydrogenase deficiency in subjects with normal and abnormal haemoglobins (reviewed in ref. 1). We have collected d...
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Article
Nucleoside phosphorylase activity in guinea pig polymorphonuclear leukocytes
Gli autori dimostrano la presenza di nucleoside fosforilasi nei granulociti neutrofili di essudato peritoneale sterile di cavia. L'attività enzimatica è distribuita quasi totalmente nella frazione solubile, pr...