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  • 1
    Electronic Resource
    Electronic Resource
    Patterning defects in the primary axonal scaffolds caused by the mutations of the extradenticle and homothorax genes in the embryonic Drosophila brain (2000)
    Springer
    Development genes and evolution 210 (2000), S. 289-299 
    Details
    ISSN: 1432-041X
    Keywords: Key words Brain development ; Axonal scaffold ; Extradenticle ; Homothorax ; Drosophila
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  During early brain development in Drosophila a highly stereotyped pattern of axonal scaffolds evolves by precise pioneering and selective fasciculation of neural fibers in the newly formed brain neuromeres. Using an axonal marker, Fasciclin II, we show that the activities of the extradenticle (exd) and homothorax (hth) genes are essential to this axonal patterning in the embryonic brain. Both genes are expressed in the developing brain neurons, including many of the tract founder cluster cells. Consistent with their expression profiles, mutations of exd and hth strongly perturb the primary axonal scaffolds. Furthermore, we show that mutations of exd and hth result in profound patterning defects of the developing brain at the molecular level including stimulation of the orthodenticle gene and suppression of the empty spiracles and cervical homeotic genes. In addition, expression of a Drosophila Pax6 gene, eyeless, is significantly suppressed in the mutants except for the most anterior region. These results reveal that, in addition to their homeotic regulatory functions in trunk development, exd and hth have important roles in patterning the developing brain through coordinately regulating various nuclear regulatory genes, and imply molecular commonalities between the developmental mechanisms of the brain and trunk segments, which were conventionally considered to be largely independent.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004270050316
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  • 2
    Electronic Resource
    Electronic Resource
    Sequence-based association analysis of HLA class I and II alleles in Japanese supports conservation of common haplotypes (1997)
    Springer
    Immunogenetics 46 (1997), S. 199-205 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  Alleles of HLA-A, B, C, DRB1, DQB1, and DPB1 loci were fully determined in 117 healthy Japanese. A * 2402, A * 3303, A * 1101, A * 0201, B * 4403, B * 5201, Cw * 0102, Cw * 1403, Cw * 0304, Cw * 0702, Cw * 0801, and Cw * 1202 showed frequencies of over 10%. Multi-locus haplotype frequencies were estimated by the maximum likelihood method. Strength of association between C and B loci was comparable with that between DRB1 and DQB1 loci. Alleles unidentified by a serological method and having very similar nucleotide sequences (A2: A * 0201, A * 0206, A * 0207, B61: B * 4002, B * 4006) were carried by different haplotypes. Several frequent five-locus haplotypes were identified including A * 3303-Cw * 1403-B * 4403-DRB1 * 1302-DQB1 * 0604, and A * 2402-Cw * 1202-B * 5201-DRB1 * 1502-DQB1 * 0601. These sequence-based haplotypes corresponded to serology-based common haplotypes which have already been described in Japanese. These findings indicate that common HLA haplotypes consist of particular sets of HLA alleles and that these haplotypes have been conserved through recent human evolution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050262
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  • 3
    Electronic Resource
    Electronic Resource
    Identification of the gene variations in human IKKA (1999)
    Springer
    Immunogenetics 50 (1999), S. 363-365 
    Details
    ISSN: 1432-1211
    Keywords: Key words IKKα ; Polymorphism ; Okasitis ; Rheumatoid arthritis ; Systemic lupus erythematosus ; Crohn's disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050615
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  • 4
    Electronic Resource
    Electronic Resource
    MIC-A polymorphism in Japanese and a MIC-A-MIC-B null haplotype (1999)
    Springer
    Immunogenetics 49 (1999), S. 620-628 
    Details
    ISSN: 1432-1211
    Keywords: Key words MIC-A polymorphism ; PCR-SSCP ; HLA association ; Deletion ; Null haplotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  A polymorphic gene, MIC-A, is one of the MIC family of genes which is composed of a group of homologous genes interspersed in the class III and class I regions of the major histocompatibility complex. MIC-A is located 46 kilobases (kb) centromeric of HLA-B, and is preferentially expressed in the epithelial cells and intestinal mucosa. Recently, MIC-A and the closely related MIC-B were reported as the molecules that conferred specificity in the recognition by the Vδ1γδT cells. In the present study, polymorphic exons 2, 3, and 4 of the MIC-A gene were analyzed using the polymerase chain reaction-single-strand conformation polymorphism method. The number of patterns found in exons 2, 3, and 4 were 5, 6, and 4, respectively, in 114 healthy Japanese subjects. Eight MIC-A alleles were observed in Japanese individuals, among which one, tentatively named MIC-AMW, has not previously been reported. There was a strong linkage disequilibrium between MIC-A and HLA-B loci: each MIC-A allele showed strong association with a particular HLA-B group. In contrast, B*3901 showed association with multiple MIC-A alleles. Furthermore, the existence of a MIC-A-MIC-B null haplotype, which is associated with HLA-B*4801, was identified. In this haplotype, a large-scale deletion (of approximately 100 kb) including the entire MIC-A gene was indicated and the MIC-B gene possessed a stop codon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050658
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  • 5
    Electronic Resource
    Electronic Resource
    Effects of pravastatin on plasma and urinary mevalonate concentrations in subjects with familial hypercholesterolaemia: a comparison of morning and evening administration (1996)
    Springer
    European journal of clinical pharmacology 49 (1996), S. 361-364 
    Details
    ISSN: 1432-1041
    Keywords: Key words Hypercholesterolaemia ; Pravastatin ; Mevalonate; cholesterol synthesis ; circadian rhythm
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract In order to determine whether there is a difference in the effect of the hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitor pravastatin on cholesterol synthesis between the morning and the evening, we studied the 24-h profile of mevalonate in plasma and urine in 11 subjects with heterozygous familial hypercholesterolaemia. In study 1, eight subjects with familial hypercholesterolaemia took pravastatin (20 mg) once in the morning, and another 20-mg dose in the evening after a 1-week wash-out period. In study 2, five subjects with familial hypercholesterolaemia took pravastatin (20 mg per day) in the morning on 3 consecutive days and on 3 days in the evening after a 1 day wash-out. Plasma mevalonate concentrations were reduced at 9 h and 5 h after pravastatin administration in the morning and the evening, respectively. Urinary mevalonate excretion was significantly reduced at 4–8 h after pravastatin administration in the morning (51 vs 19 nmol ⋅h−1) and at 4–16 h after pravastatin administration in the evening (56 vs 27 nmol ⋅h−1). Daily urinary mevalonate excretion was equally and significantly reduced by pravastatin in the morning or evening. In conclusion, we found that morning and evening administration of pravastatin caused equal reductions in plasma and urinary mevalonate concentrations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002280050032
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  • 6
    Electronic Resource
    Electronic Resource
    Effects of pravastatin on plasma and urinary mevalonate concentrations in subjects with familial hypercholesterolaemia: a comparison of morning and evening administration (1996)
    Springer
    European journal of clinical pharmacology 49 (1996), S. 361-364 
    Details
    ISSN: 1432-1041
    Keywords: Hypercholesterolaemia ; Pravastatin ; Mevalonate ; cholesterol synthesis ; circadian rhythm
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract In order to determine whether there is a difference in the effect of the hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitor pravastatin on cholesterol synthesis between the morning and the evening, we studied the 24-h profile of mevalonate in plasma and urine in 11 subjects with heterozygous familial hypercholesterolaemia. In study 1, eight subjects with familial hypercholesterolaemia took pravastatin (20 mg) once in the morning, and another 20-mg dose in the evening after a 1-week wash-out period. In study 2, five subjects with familial hypercholesterolaemia took pravastatin (20 mg per day) in the morning on 3 consecutive days and on 3 days in the evening after a 1 day wash-out. Plasma mevalonate concentrations were reduced at 9 h and 5 h after pravastatin administration in the morning and the evening, respectively. Urinary mevalonate excretion was significantly reduced at 4–8 h after pravastatin administration in the morning (51 vs 19 nmol · h−1) and at 4–16 h after pravastatin administration in the evening (56 vs 27 nmol · h−1). Daily urinary mevalonate excretion was equally and significantly reduced by pravastatin in the morning or evening. In conclusion, we found that morning and evening administration of pravastatin caused equal reductions in plasma and urinary mevalonate concentrations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00203778
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  • 7
    Electronic Resource
    Electronic Resource
    MULTIPLEX ARMS-PCR-RFLP METHOD FOR HIGH-RESOLUTION TYPING OF HLA-DRB1 (1995)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 22 (1995), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: A reliable method for high-resolution HLA-DRB1 typing using the combination of group-specific amplification and RFLP analysis is described. Group-specific PCR amplification (multiplex ARMS-PCR) was carried out under the same conditions for all groups using seven different primer pairs divided into four groups: (1) DR1 and DR10; (2) DR2, DR7 and DR9; (3) DR3, DR5, DR6 and DR8, and (4) DR4. The subsequent polyacrylamide gel electrophoresis was used to determine the group(s) contained in each sample. DR1, DR2/7, DR3/5/6/8, DR4, DRB1*0901 and DRB1 * 1001 could be distinguished easily using this system. Computer analysis of the various restriction enzyme cleavage sites was carried out on 105 DRB1 allele sequences. It was shown that all DRB1 alleles, except for five allele pairs and some alleles possessing silent mutations, could be distinguished with commonly available restriction endonucleases. Computer analyses on the discrimination of the heterozygous and homozygous combinations were also carried out. Although some heterozygous combinations could not be distinguished with single digestion, double digestion using two restriction enzymes could distinguish most of such heterozygotes. The results of the typing of 100 Japanese individuals using this method showed good agreement with those obtained by other methods.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1995.tb00252.x
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  • 8
    Electronic Resource
    Electronic Resource
    CHARACTERIZATION OF MHC ANCESTRAL HAPLOTYPES ASSOCIATED WITH INSULIN-DEPENDENT DIABETES MELLITUS: EVIDENCE FOR INVOLVEMENT OF NON-HLA GENES (1990)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 17 (1990), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Insulin-dependent diabetes mellitus (IDDM) is associated with several DR3- or DR4-containing ancestral haplotypes (AHs). Using pulsed field gel electrophoresis (PFGE), long range maps of 35 haplotypes have been derived and classified. Two diabetogenic DR3-containing AHs (8.1 and 18.2) possess deletions in the central non-HLA region; these have not been found on non-diabetogenic AHs tested to date. In addition, 8.1 and 18.2 also carry other deletions not found on other AHs. Three DR4 containing AH lack a Not 1 site, which may imply excision of an unidentified gene. These and other data suggest that deletions may be relevant to the pathogenesis of autoimmune disease, possibly through causing quantitative differences in autoimmune responses involved in IDDM. The MHC contains several regions of potential interest in relation to susceptibility to IDDM; these may explain the association with only certain DR3- and DR4-carrying AH and DR3,4 heterozygosity in terms of cis and trans interactions. On the other hand, the class I1 region may be particularly important in protection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1990.tb00889.x
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  • 9
    Electronic Resource
    Electronic Resource
    THE ANTIGENIC DETERMINANTS, Rg/Ch/WH, EXPRESSED BY JAPANESE C4 ALLOTYPES (1988)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 15 (1988), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: The expression of antigenic determinants, Rg/Ch/WH, on Japanese C4 allotypes has been studied. Although the Japanese C4 allotype frequencies are known to differ from Europeans, the antigenic expression of their C4 allotypes correlates with associations described previously. All 89 random donors and 17 selected donors were Rg:1,2 so neither Rg:1,−2 nor Rg:−1,−2 was found. The frequency of Ch: 1,−2,3 was elevated while that of Ch: 1,2,3 was reduced, which was seen as a direct result of the higher frequency of B2 and B5 allotypes. None of the Japanese were Ch: 1,2,−3, but this can be accounted for by the absence of the A*6,B*1 haplotype. The WH determinant, which has been associated completely with Rg:1,−2 in Caucasians, was found at a higher frequency, 32%, in association with an A*3,2,B*QO haplotype expressing Rg:1,2, which has not been described previously. Detailed investigation showed that the A3 allotype was Rg:1,2 whereas the A2 allotype only expressed Rg1 (Rg:1,−2 WH+).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1988.tb00430.x
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  • 10
    Electronic Resource
    Electronic Resource
    POLYMORPHISM OF THE COMPLEMENT COMPONENT C6 IN JAPANESE (1983)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 10 (1983), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Genetic polymorphism of human C6 was investigated in Japanese using isoelectric focusing and a specific haemolytic overlay method. Three common and six rare allotypes were identified. Five of these nine allotypes were reference-typed by the International Reference Laboratory. Five of the six rare allotypes were considered to be new. The allele frequencies were estimated in the population study as follows: C6 A 0.427, C6 B 0.483 C6 B2 0.076, and the rere alleles (A3, A21, M1, M2, B3, and B4) 0.041.Inheritance of the three common and the two rare (A3 and M1) allotypes was demonstrated in the family study. The patterns obtained by the pretreatment with neuraminidase are presented.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1983.tb01029.x
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