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  • 1
    Online Resource
    Online Resource
    San Diego :Elsevier Science & Technology,
    Keywords: Glucose-6-phosphate dehydrogenase deficiency -- Congresses. ; Glucose-6-phosphate dehydrogenase -- Pathophysiology -- Congresses. ; Electronic books.
    Type of Medium: Online Resource
    Pages: 1 online resource (552 pages)
    Edition: 1st ed.
    ISBN: 9780323146296
    Language: English
    Note: Front Cover -- Glucose-6-Phosphate Dehydrogenase -- Copyright Page -- Table of Contents -- PREFACE -- Pau l E. Carson-In Memoriam -- PART I: G6PD DEFICIENCY AND HEMOLYTIC ANEMIA -- CHAPTER 1. DRUG-INDUCED HEMOLYTIC ANEMIA AND NON-SPHEROCYTIC HEMOLYTIC ANEMIA -- I. DRUG INDUCED HEMOLYSIS -- II. MECHANISM OF HEMOLYSIS -- III. HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA -- REFERENCES -- CHAPTER 2. PHARMACOGENETIC INTERACTION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY WITH ACETYLATION AND HYDROXYLATION -- THE MYSTERY -- OUR STUDY OF METABOLIC INTERACTIONS -- A REMAINING MYSTERY -- SUMMARY -- REFERENCES -- CHAPTER 3. FAVISM: EPIDEMIOLOGICAL AND CLINICAL ASPECTS -- 1. INTRODUCTION -- 2. EPIDEMIOLOGICAL DATA -- 3. CLINICAL ASPECTS -- 4. LABORATORY DATA -- COMMENTS -- REFERENCES -- CHAPTER 4. ETIOLOGICAL ASPECTS OF FAVISM -- I. THE FAVIC CRISIS -- II. GENETIC ASPECTS -- III. HAZARDOUS CONSTITUENTS OF VICIA FABA -- IV. RED CELL GLUTATHIONE IN FAVISM -- V. METABOLIC MODIFICATIONS IN FAVISM -- VI. CALCIUM HOMEOSTASIS IN FAVISM -- VII. RHEOLOGY AND MEMBRANE CROSS BONDING IN FAVISM -- VIII. ERYTHROPHAGOCYTOSIS IN FAVISM -- IX· CONCLUDING REMARKS -- ACKNOWLEDGEMENTS -- REFERENCES -- CHAPTER 5. DIVICINE AND G6PD-DEFICIENT ERYTHROCYTES: AN INTEGRATED MODEL OF CYTOTOXICITY IN FAVISM -- I. INTRODUCTION -- II. AUTOOXIDATION OF DIVICINE -- III. INTERACTIONS BETWEEN DIVICINE AND THE HEMOGLOBIN-METHEMOGLOBIN SYSTEM -- IV. INTRACELLULAR DAMAGING EFFECTS OF DIVICINE ON G6PD-DEFICIENT ERYTHROCYTES -- V. FUTURE PERSPECTIVES -- ACKNOWLEDGMENTS -- REFERENCES -- CHAPTER 6. G6PD-RELATED NEONATAL JAUNDICE -- ACKNOWLEDGMENTS -- REFERENCES -- CHAPTER 7. REGULATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN NORMAL AND VARIANT RED BLOOD CELLS -- I. THE HEXOSE MONOPHOSPHATE 5HUNT AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE -- II. A DISCREPANCY BETWEEN OBSERVED AND EXPECTED ACTIVITIES. , III. EXTENSIVE BINDING OF INTRACELLULAR NADP -- IV. UNANSWERED QUESTIONS -- REFERENCES -- CHAPTER 8. INTRAERYTHROCYTIC STABILITY OF NORMAL AND MUTANT G6PD -- I. INTRODUCTION -- II. MATERIALS AND METHODS -- III. RESULTS -- IV. DISCUSSION -- ACKNOWLEDGMENTS -- REFERENCES -- CHAPTER 9. OXIDANT-INDUCED MEMBRANE DAMAGE IN G-6-PD DEFICIENT RED BLOOD CELLS -- I. INTRODUCTION -- II. STUDIES OF THE MECHANISM OF CHRONIC HEMOLYSIS -- III. PATHOPHYSIOLOGIC IMPLICATIONS -- IV. THERAPEUTIC IMPLICATIONS -- REFERENCES -- PART II: G6PD VARIATION -- CHAPTER 10. ORIGIN OF G6PD POLYMORPHISM: MALARIA AND G6PD DEFICIENCY -- ACKNOWLEDGMENTS -- REFERENCES -- CHAPTER 11. G6PD VARIANTS IN SOUTHERN ASIAN POPULATIONS -- INCIDENCE OF G6PD DEFICIENCY AND DESCRIPTION OF VARIANTS BY POPULATION GROUPS -- COMMON G6PD VARIANTS IN SOUTHERN ASIAN POPULATIONS -- CLINICAL PICTURES OF THE VARIANTS -- CONCLUSION -- REFERENCE -- CHAPTER 12. GLUC0SE-6-PH0SPHATE DEHYDROGENASE DEFICIENCY AND MALARIA IN CENTRAL THAILAND -- CHAPTER 13. G6PD VARIATION IN INDIA -- I. INTRODUCTION -- II. MATERIAL AND METHODS -- III. RESULTS -- IV. DISCUSSION -- ACKNOWLEDGMENTS -- REFERENCES -- CHAPTER 14. GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS IN JAPAN -- ABSTRACT -- I. INTRODUCTION -- II. MATERIALS AND METHODS -- III. RESULTS -- IV. DISCUSSION -- REFERENCES -- CHAPTER 15. DISCUSSION -- REFERENCES -- CHAPTER 16. GLUCOSE-6-PHOSPHATE DEHYDROGENASE FROM LEUCONOSTOC MESENTEROIDES -- I. INTRODUCTION -- II. MOLECULAR PROPERTIES -- III. KINETIC STUDIES -- IV. BINDING STUDIES -- V. REGULATION -- VI. CONCLUSIONS -- REFERENCES -- CHAPTER 17. G6PD OF DROSOPHILIA MELANOGASTER -- I. INTRODUCTION -- II. DROSOPHILA G6PD -- REFERENCES -- CHAPTER 18. GLUCOSE-6-PHOSPHATE DEHYDROGENASE AND HEXOSE-6-PHOSPHATE DEHYDROGENASE: AN EVOLUTIONARY ASPECT -- ABSTRACT -- I. INTRODUCTION -- II. DIVERGENCE OF H6PD FROM G6PD. , III. FUNCTIONAL DIFFERENTIATION OF G6PD AND H6PD -- REFERENCES -- CHAPTER 19. SIGNALS REGULATING GLUC0SE-6-P DEHYDROGENASE LEVELS IN RAT LIVER -- REFERENCES -- CHAPTER 20. HEPATIC GLUCOSE-6-PHOSPHATE DEHYDROGENASE: NUTRITIONAL AND HORMONAL REGULATION OF mRNA LEVELS -- I. INTRODUCTION -- II. EXPERIMENTAL PROCEDURES -- III. RESULTS -- IV. CONCLUSIONS -- REFERENCES -- CHAPTER 21. TRANSCRIPTIONAL AND POST-TRANSCRIPTIONAL REGULATION OF UTERINE GLUCOSE-6-PHOSPHATE DEHYDROGENASE BY ESTRADIOL -- I. INTRODUCTION -- II. REGULATORY SEQUENCES INVOLVING G6PD AND HMP PATHWAY ACTIVITIES IN THE ESTROGEN-INDUCED UTERUS -- III. MOLECULAR EVENTS THROUGH WHICH THE AMOUNT OF UTERINE G6PD APOPROTEIN IS REGULATED BY ESTRADIOL -- IV. MECHANISMS BY WHICH UTERINE G6PD SYNTHESIS AND MODIFICATIONS MAY BE REGULATED BY ESTRADIOL -- V. CONCLUSIONS -- REFERENCES -- PART III: EXPRESSION OF Gd LOCUS -- CHAPTER 22. G6PD AS A TOOL AND A TARGET FOR STUDIES ON X-CHROMOSOME LINKAGE -- REFERENCES -- CHAPTER 23. X-INACTIVATION IN FEMALES HETEROZYGOUS FOR G-6-PD VARIANTS -- I. THE ORIGIN OF THE CONCEPT OF X-INACTIVATION -- II. EXPRESSION OF G-6-PD DEFICIENCY IN THE RED CELLS OF HETEROZYGOUS FEMALES -- III. DIAGNOSIS OF THE HETEROZYGOUS DEFICIENT STATE -- IV. TISSUE DISTRIBUTION OF GENE PRODUCTS IN HETEROZYGOTES -- V. CLINICAL MANIFESTATIONS IN HETEROZYGOTES -- CHAPTER 24. MECHANISM OF MAMMALIAN X-CHROMOSOME INACTIVATION -- I. INTRODUCTION -- II. DNA METHYLATION AND CONTROL OF GENE ACTIVITY -- III. DNA METHYLATION AND MAINTENANCE OF X-CHROMOSOME INACTIVATION -- IV. MOLECULAR STUDIES ON THE MECHANISM OF X-INACTIVATION -- ACKNOWLEDGEMENTS -- REFERENCES -- CHAPTER 25. INSIGHTS INTO G6PD REGULATION FROM STUDIES OF X DOSAGE COMPENSATION -- ACKNOWLEDGEMENT -- REFERENCES -- CHAPTER 26. POLYCLONAL TUMORS -- INTRODUCTION -- POLYCLONAL GROWTH AS AN INITIAL STAGE IN HEREDITARY TUMORS. , POLYCLONAL MALIGNANT TUMORS -- LEIOMYOMAS OF THE UTERUS -- SUMMARY -- ACKNOWLEDGMENT -- REFERENCE -- CHAPTER 27. G-6-PD AS A MARKER FOR TUMORS -- REFERENCES -- CHAPTER 28. GLUCOSE-6-PHOSPHATE DEHYDROGENASE AND MOSAIC ANALYSIS OF HUMAN ATHEROSCLEROTIC LESIONS -- I. INTRODUCTION -- II. DISCUSSION -- ACKNOWLEDGMENTS -- REFERENCES -- PART IV: MOLECULAR BIOLOGY OF HUMAN G6PD -- CHAPTER 29. STRUCTURE OF HUMAN GLUCOSE-6-PHOSPHATE DEHYDROGENASE -- ACKNOWLEDGMENTS -- REFERENCES -- CHAPTER 30. IDENTIFICATION OF A REACTIVE LYSINE RESIDUE IN HUMAN ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE -- I. INTRODUCTION -- II. RESULTS -- III. DISCUSSION -- REFERENCES -- CHAPTER 31. KINETICS AND MOLECULAR ABNORMALITIES OF HUMAN G6PD VARIANTS -- INTRODUCTION -- CONCLUSION -- REFERENCES -- CHAPTER 32. ANALYSIS OF THE PRIMARY STRUCTURE OF HUMAN G6PD DEDUCED FROM THE cDNA SEQUENCE -- Conclusion -- REFERENCES -- CHAPTER 33. MOLECULAR CLONING OF cDNA FOR G6PD -- ACKNOWLEDGMENTS -- REFERENCES -- INDEX.
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  • 2
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 614 (1991), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Public Health 21 (2000), S. 65-79 
    ISSN: 0163-7525
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Notes: Abstract Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used for discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Medicine 57 (2006), S. 331-347 
    ISSN: 0066-4219
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Notes: A number of genetic disorders can result in the accumulation of excess iron in the body. These causes of hereditary hemochromatosis include defects in genes encoding HFE, transferrin receptor 2, ferroportin, hepcidin, and hemojuvelin. Hepcidin, with its cognate receptor, ferroportin, has emerged as a central regulator of iron homeostasis; all of the known causes of hemochromatosis appear to prevent this system from functioning normally. The most common form of primary hemochromatosis is that caused by C282Y mutation of the HFE gene. This mutation is most prevalent among Northern Europeans. Although the frequency of the homozygous genotype is approximately 5 per 1000, the disease itself is quite rare because the clinical penetrance of the genotype is very low.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature medicine 2 (1996), S. 523-524 
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Gaucher disease is the most common of the glycolipid storage disorders, affecting about 10,000–20,000 Americans. Although often asymptomatic, severely affected patients are afflicted with enlarged livers and spleens (Fig. 1), anemia and bone lesions. In rare forms of the disease the central ...
    Type of Medium: Electronic Resource
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  • 6
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    Unknown
    Baltimore : Periodicals Archive Online (PAO)
    Human Biology. 65:1 (1993:Feb.) 41 
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  • 7
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 226 (1970), S. 759-760 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] In glucose 6-phosphate dehydrogenase deficiency, metabolism in the second step of the sequence is impaired. As a consequence, when treated with acetylphenylhydrazine in vitro, the red cells form increased numbers of Heinz bodies1 and show instability of GSH. In vivo, they are ...
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 210 (1966), S. 115-116 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Glucose-6-phosphate dehydrogenase (G6PD) deficiency and G6PD electrophoretic phenotypes are sex-linked in man. In order to establish whether this is true in other animals, we studied the electrophoretic mobility of G6PD in the Equidae. To prepare the haemolysate, red cells were washed after ...
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 181 (1958), S. 837-838 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Table 1 Iron content as average Sample No. of per cent of dry aliquots weight ± standard error of the mean Mother liquor from first crystalliza- tion of haemoglobin from normal rats 2 0-312 Mother liquor from first crystalliza- tion of haemoglobin from iron- ...
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 196 (1962), S. 1095-1096 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] In 1955, I wrote: "It may be that Heinz body-forming compounds act as oxidation-reduction 'carriers' oxidizing the red cell component"3*1. In 1957, I demonstrated that haemoglobin was altered by acetylphenylhydrazine to a form which oxidized GSH to G-SSG, and that this form was not ...
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