Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Complete molecular scanning of the human Fas gene: mutational analysis and linkage studies in families with Type I diabetes mellitus (2000)
    Springer
    Diabetologia 43 (2000), S. 800-808 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Genetics, candidate gene, apoptosis, tolerance, microsatellite, ALPS, c-Myb, SP-1, NF-kB.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. The human Fas gene (FAS) on chromosome 10q24.1 encoding a cell surface receptor involved in apoptosis was evaluated as a candidate susceptibility gene for Type I (insulin-dependent) diabetes mellitus. Apoptosis mediated by Fas is important in maintaining peripheral self-tolerance and in down-regulating the immune response and could have a role in immune-mediated beta-cell destruction.¶Methods. We did a molecular scan of the entire human FAS (promoter, exons 1–9 including exon-intron boundaries and the 3 ′UTR) using single strand conformational polymorphism-heteroduplex analysis.¶Results. We identified 15 mutations, of which 11 are new. Of these a g-1194A→T and a g-295Ains give rise to alterations of transcription-factor-binding consensus sequences for c-Myb, SP-1 and NF-kB, respectively. A total of 1068 people from a Danish family collection comprising 138 Type I diabetic sib-pair families (289 affected and 121 unaffected offspring) and 103 Type I diabetic parent-offspring multiplex families (103 affected and 112 unaffected offspring) were typed for the three most frequent polymorphisms with high heterozygosity indices and for a FAS microsatellite. Haplotypes were established and data analysed using the extended transmission disequilibrium test, ETDT.¶Conclusion/interpretation. We found no overall evidence for linkage of the FAS polymorphisms to Type I diabetes. We conclude that it is unlikely that the Fas gene does contribute to genetic susceptibility for Type I diabetes. [Diabetologia (2000) 43: 800–808]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051378
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Predictors of IDDM recurrence risk in offspring of Danish IDDM patients (1998)
    Springer
    Diabetologia 41 (1998), S. 666-673 
    Details
    ISSN: 1432-0428
    Keywords: Keywords IDDM ; epidemiology ; offspring ; recurrence risk ; sex difference ; prediction ; cumulative risk ; Cox proportional hazards model.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary It has previously been observed that offspring of mothers with insulin-dependent diabetes mellitus (IDDM) have a lower risk of IDDM than offspring of IDDM affected fathers. To assess the offspring IDDM recurrence risk in a Danish population-based study and to investigate parental and offspring-related biological variables that might influence this risk, we identified 2726 IDDM probands and their 2826 offspring from a background population of 1.725 million people (33 % of the Danish population). Current age of probands was 20–65 years and their age at IDDM onset was 30 years or less. Sixty-nine offspring (2.4 %) were affected with IDDM. The sex difference in the parental-offspring IDDM transmission rate was confirmed. The cumulative IDDM risk up to age 30 years was found to be significantly decreased in maternal offspring compared to paternal offspring (2.3 ± 0.6 and 5.7 ± 0.9 %, RR = 2.40, 95 % CI 1.30–4.47; p = 0.004) only if parents were diagnosed with IDDM before birth of the offspring. However, due to the low number of diabetic offspring of probands diagnosed with IDDM after offspring birth, this observation needs to be confirmed in a larger population. In a subpopulation of the 2380 offspring, whose parents were all diagnosed with IDDM before offspring birth, the recurrence risk was significantly increased in offspring of male probands diagnosed up to age 17 years compared to offspring of fathers diagnosed at older ages (8.5 ± 1.8 and 3.6 ± 1.0 %; RR = 2.27, 95 % CI 1.21–4.25; p = 0.006). No such relation was found in maternal offspring. Using the Cox proportional hazards model on this offspring subpopulation we found that paternal age at IDDM onset was the only statistically significant predictor of IDDM recurrence risk. Our findings may be important for counselling families in which one parent has IDDM. [Diabetologia (1998) 41: 666–673]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050966
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    GPS relative positioning at a precision level of one part per billion (1993)
    Springer
    Journal of geodesy 67 (1993), S. 91-106 
    Details
    ISSN: 1432-1394
    Source: Springer Online Journal Archives 1860-2000
    Topics: Architecture, Civil Engineering, Surveying
    Notes: Abstract Six days of data from the GIG'91 experiment have been analyzed with a fiducial strategy. The results obtained with our orbital software GEOSAT, show daily horizontal and length repeatabilities at the level of 1 part in 109 plus 2 mm for baseline lengths up to 4000 km. A direct comparison with results from the GIPSY software shows, with some exceptions, mean differences at the sub-cm level. After transformation to ITRF'90 the rms of the coordinate differences is 14.8 mm. Studies of orbital predictions and comparisons with external high precision orbits indicate a mean orbit precision and accuracy of around 35 cm in each cartesian coordinate. Correlations between the GEOSAT and GIPSY solutions indicate some common model deficiencies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01371373
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Identification of a Type 1 Diabetes-Associated CD4 Promoter Haplotype with High Constitutive Activity (2004)
    Oxford, UK; Malden, USA : Blackwell Science Ltd
    Scandinavian journal of immunology 59 (2004), S. 0 
    Details
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: CD4 is a candidate gene in autoimmune diseases, including Type 1 diabetes mellitus (T1DM), because the CD4 receptor is crucial for appropriate antigen responses of CD4+ T cells. We previously found linkage between a CD4-1188(TTTTC)5−14 promoter polymorphism and T1DM. In the present study, we screened the human CD4 promoter for mutations and identified three frequent single nucleotide polymorphisms (SNPs): CD4-181C/G, CD4-521C/G and CD4-1050T/C. The SNPs are in strong linkage disequilibrium (LD) and association with the CD4-1188(TTTTC)5−14 alleles, and we observed nine CD4 promoter haplotypes, of which four are frequent. We genotyped the SNPs in 253 Danish T1DM families (1129 individuals) and found evidence for linkage and association of a CD4 (A4-1188T-1050G-521C-181) haplotype to T1DM. In reporter studies, we show that (1) the T1DM-associated CD4 haplotype encodes high constitutive promoter activity and (2) the CD4-181G variant encodes higher stimulated promoter activity than the CD4-181C variant. This difference is in part neutralized in the frequently occurring CD4 promoter haplotypes by the more upstream genetic variants. Thus, we report functional impact of a novel CD4-181C/G SNP on stimulated CD4 promoter activity and the identification of a novel CD4 haplotype with high constitutive promoter activity that is linked and associated with T1DM.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-3083.2004.01444.x
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    The mobile VLBI campaigns in Norway (1989–1993) (1995)
    Springer
    Journal of geodesy 69 (1995), S. 274-282 
    Details
    ISSN: 1432-1394
    Source: Springer Online Journal Archives 1860-2000
    Topics: Architecture, Civil Engineering, Surveying
    Notes: Summary Since 1989 several mobile VLBI campaigns have been carried out in Europe with a total of 14 sites occupied. The Norwegian stations at Tromsø and Trysil are the only mobile VLBI stations in Europe observed in more than one epoch, so they have produced the most interesting data from these campaigns. Tromsø is the only station observed in the two summer campaigns (1989 and 1992), while Trysil has been the winter site for MV-2 since late 1991 until the spring of 1993. In this paper we describe the mobile VLBI campaigns in Norway including the observational work and the detailed geodetic analysis performed with OCCAM V3.3. We have also analyzed a series of GPS data sets from Tromsø in order to check the reliability of the VLBI results for that station. The results reveal the need for a very careful design of mobile VLBI experiments, in particular regarding the consistency of the network and of the observation schedules, and the special care that is required in the analysis of the mobile VLBI data in order to achieve significant conclusions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00806739
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...