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  • 1
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Biochemistry 2 (1963), S. 471-476 
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The prevalence of seven different mutations (84GG, IVS2+1, 754A, 1226G, 1342C, 1448C, and 1504T) was investigated in 32 unrelated Japanese Gaucher patients of which 20 were type I, 6 were type II, and 6 were (type III). These mutations constitute 95% of the mutations observed in Jewish patients with Gaucher disease and 75% of the mutations in non-Jews (European). The most frequent mutation, 1448C (L444P), accounted for 26 alleles (40.6%); the second most prevalent mutation was 754A (F213I), accounting for 7 alleles (10.9%); 27 alleles (42.2%) were unidentified. To data, neither the 1226G (N370S) nor 84GG mutations have been identified in the Japanese population though these alleles account for approximately 70% and 10% of mutations in the Jewish population. These data suggest that mutant alleles identified from the Japanese population are distinct from those observed in Jewish and non-Jewish (European) patients with Gaucher disease.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 167-171 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Using PCR and PCR-single strand conformation polymorphism (SSCP) we have identified gene mutations in 17 Japanese patients with neuropathic Gaucher disease (type 2, 9 cases; type 3, 8 cases). The L444P, F213I, D409H, and 1447 del 20 and 1447 ins TG mutations accounted for eight (type 2, 6; type 3, 2), seven (type 2, 2; type 3, 5), three (type 3), and three (type 2) alleles, respectively. Three alleles were unique. Ten alleles (type 2, 5; type 3, 5) could not be identified. The genotypes, D409H/?, L444P/?, L444P/F213I, and F213I/?, were identified in three, three, two, and two patients, respectively. Six patients had a unique genotype and none of the mutant alleles could be identified in one patient. The data indicate that the genotypes in Japanese patients with neuropathic Gaucher disease are found to be heterogeneous and the genotype prevalence and mutated alleles are unique.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 33 (1979), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract— To determine whether changes in cerebral polyamines might mediate previously reported ACTH-induced changes in brain biochemistry and behavior, the cerebral content of polyamines was examined following ACTH treatment. Male CD-1 mice were injected daily for 3 days with long-acting (zinc phosphate) preparations of ACTH1–24 (1 μg/g) or ACTH4–10 (0.33 μg/g) and killed 24 h after the last injection. Putrescine, spermidine and spermine contents were determined by high pressure liquid chromatography. Putrescine content was significantly elevated in all brain regions by ACTH1–24 (approx 50%), and in the telencephalon by ACTH4–10 At the dose tested ACTH4–10 was less effective than ACTH1–24. Telencephalic spermidine was also elevated (10%)by ACTH1–24, but spermine content was not altered in any brain region. One injection of the long-acting ACTH1–24 preparation elevated telencephalic putrescine (49%) 24 h post-injection. ACTH1–24 (1 μg/g) in saline produced a peak elevation of all three telencephalic polyamines 6 h post-injection, while in the liver only putrescine was significantly elevated and reached a peak at 10h. Neither plasma polyamine nor ornithine concentrations were significantly altered by any of the treatments. Corticosterone, in both single and multiple injection regimens, failed to alter telencephalic polyamine content. Adrenalectomy, however, prevented the ACTH1–24-induced increase in telencephalic polyamines. It is concluded that ACTH acts directly in the brain to increase cerebral polyamine concentrations. The possibility that adrenal hormones exert permissive effects on this action is discussed.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Sphingolipid composition in both gray and white matter of a patient with I-cell disease was normal except for the higher proportion.of GMI-ganglioside in gray and white matter. In the patient's liver and kidney there was a significant accumulation of ceramide dihexoside and ceramide trihexoside and of sulphatide in kidney. Non-lipid hexosamine and sialic acid concentration in brain was increased 1.2-1.5 times above normal. Recovery of myelin from I-cell's white matter was 80-100%, suggesting that demyelination, if present, is minimal. Myelin lipid and myelin specific glycoprotein patterns were normal. Except for β-galactosidase activity the activity of other brain lysosomal enzymes were within the normal range. This finding was similar to that of Hurler's syndrome. Only β-galactosidase activity was reduced to less than 10% of normal in the patient's brain. To examine the possible metabolic significance of β-galactosidase deficiency in I-cell disease the physical characteristics of this enzyme, isolated from tissues from I-cell, Hurler and control patients, were compared using isoelectric focusing, Con A-Sepharose and Sephadex G-150 chromatography. The isoelectric point and the binding affinity of I-cell β-galactosidase with Con A-Sepharose was comparable to normal. However, the isoenzyme patterns of brain and liver I-cell β-galactosidase with Sephadex G-150 gel filtration revealed decreased acid β-galactosidase. Effects of the addition of sodium chloride on each fraction of β-galactosidase isoenzymes isolated from I-cell tissues were markedly different from controls, whereas the pH optimum of these enzymes were similar to normal. These enzyme characteristics in I-cell tissues were different from normal and Hurler's syndrome. These findings suggest that β-galactosidase deficiency in I-cell disease is a more specific phenomenon rather than secondary inhibition as found in the mucopolysaccharidoses and thus may have an important role for the pathogenesis of brain damage and disease occurrence.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 238 (1972), S. 94-96 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] In humans, the leucocyte is a readily accessible cell. A diurnal variation in the number of circulating leucocytes in man has previously been reported3, but periodic RNA changes in human leucocytes. This report shows changes in total(quantitative) RNA content, as well as changes in RNA ...
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 203 (1964), S. 1256-1257 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] WE have previously reported that the leucine analogue 5?,5?,5'-trinuoro-D,:L-leucine can, without adaptation, replace at least half the leucine residues in the bacterial proteins of leucine auxotrophs of E. coli1. Efforts to demonstrate the incorporation of this analogue into proteins of mice were ...
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 10 (1996), S. 712-715 
    ISSN: 1432-198X
    Keywords: Key words: Hajdu-Cheney syndrome ; Acro-osteolysis ; Hypoplastic kidneys ; Renal failure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. We report a 14-year-old boy from Saudi Arabia with the Hajdu-Cheney syndrome who also had bilateral hypoplastic kidneys and chronic renal failure. This report, along with others in the literature, suggest that renal abnormalities, including cystic disease, vesico-ureteral reflux, glomerulonephritis, chronic renal failure, and hypertension, may be an integral part of this syndrome. Recognizing this fact, may help in the early diagnosis, prevention, and treatment of renal failure in these patients.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 59 (1981), S. 182-184 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A rare maternal complex balanced translocation, 46,XX, t(2;3;13)(q37;p11;q14) carrier state is described in a 24-year-old black mother. Her children demonstrate normal, balanced and unbalanced segregation patterns derived from this balanced chromosomal arrangement.
    Type of Medium: Electronic Resource
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