Search Results - "Luzzatto, L."
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G6PD deficiency and malaria selection
Published in Heredity (01-04-2012)Get full text
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Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Rasburicase Therapy in the Context of G6PD Deficiency Genotype
Published in Clinical pharmacology and therapeutics (01-08-2014)“…Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is associated with development of acute hemolytic anemia (AHA) induced by a number of drugs. We provide…”
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Malaria. Protecting against bad air
Published in Science (American Association for the Advancement of Science) (20-07-2001)“…It was J.B. S. Haldane who first pointed out that an infectious disease causing high mortality among children could be important in shaping human evolution by…”
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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
Published in The EMBO journal (01-11-1995)“…Glucose 6‐phosphate dehydrogenase (G6PD) is a housekeeping enzyme encoded in mammals by an X‐linked gene. It has important functions in intermediary metabolism…”
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The cellular pathogenesis of paroxysmal nocturnal haemoglobinuria
Published in Leukemia (01-08-2001)“…Paroxysmal nocturnal haemoglobinuria (PNH) is a unique disorder characterised by the triad of intravascular haemolysis, thrombosis and bone marrow failure. In…”
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The mechanisms of neoplastic transformation
Published in European journal of cancer (1990) (01-10-2001)Get full text
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Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG‐A gene
Published in The EMBO journal (01-01-1994)“…Paroxysmal nocturnal haemoglobinuria (PNH), an acquired clonal blood disorder, is caused by the absence of glycosyl phosphatidylinositol (GPI)‐anchored surface…”
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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
Published in Journal of endocrinological investigation (01-07-2009)“…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…”
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Abnormal T-cell repertoire is consistent with immune process underlying the pathogenesis of paroxysmal nocturnal hemoglobinuria
Published in Blood (01-10-2000)“…Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder of the hematopoietic stem cell (HSC). Somatic mutations in thePIG-Agene result in the…”
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The spectrum of molecular lesions in human tumors
Published in Pathologica (01-10-2003)Get more information
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Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria
Published in The Lancet (British edition) (16-04-1994)“…Patients with paroxysmal nocturnal haemoglobinuria (PNH) have in their blood two red-cell populations, one normal and one deficient in proteins anchored to the…”
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Prospective analysis of minimal bone marrow infiltration in pediatric Burkitt's lymphomas by long-distance polymerase chain reaction for t(8;14)(q24;q32)
Published in Leukemia (01-03-2003)“…The chromosomal translocation t(8;14)(q24;q32) represents a characteristic marker for Burkitt's lymphoma (BL). This translocation involves the MYC oncogene on…”
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18 Paroxysmal nocturnal hemoglobinuria
Published in Leukemia research (2007)Get full text
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Dynamics of hematopoiesis in paroxysmal nocturnal hemoglobinuria (PNH): no evidence for intrinsic growth advantage of PNH clones
Published in Leukemia (01-11-2002)“…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…”
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Introduction: from the genetic basis of blood disorders to gene transfer for the purpose of gene therapy
Published in Seminars in hematology (01-04-1998)Get more information
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Hemolytic anemia
Published in Seminars in hematology (01-10-1999)“…We entered the 20th century with only meager understanding of the erythrocyte. We leave this century with a relatively detailed understanding of the metabolism…”
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Comprehensive Cancer Care Networks: A realistic model for optimising outcomes and minimising inequalities
Published in European journal of public health (01-11-2016)Get full text
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The molecular basis of glucose-6-phosphate dehydrogenase deficiency
Published in Trends in genetics (01-04-1992)“…With more than 300 different variants reported, the human enzyme glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) is one of the most polymorphic proteins…”
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Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase
Published in Blood cells, molecules, & diseases (01-08-1997)Get full text
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Genetics of red cells and susceptibility to malaria
Published in Blood (01-11-1979)Get full text
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