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
    A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 414-418 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Ehlers-Danlos syndrome type IV, an inherited connective tissue disease, is usually caused by mutations in the gene for type III collagen. Here, we describe a glycine to glutamic acid substitution in a patient with this syndrome. Previous studies had shown that fibroblasts from the patient, his mother and brother secreted a reduced amount of type III collagen and also produced an overmodified form of the protein that was preferentially retained intracellularly. Peptide mapping experiments indicated that the mutation was located within cyanogen bromide peptide 9. This was supported by chemical cleavage analysis and sequencing of cDNA encoding this region. Allele-specific oligonucleotide hybridisation of genomic DNA confirmed that a G to A mutation converted Gly 847 to Glu. The mutation was present in two other affected family members and also in a third, who was clinically unaffected. Further analysis of this unaffected individual revealed reduced mutant:normal ratios in DNA obtained from both blood and hair samples, showing that she was mosaic for the mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194313
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 325-330 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A large family with Ehlers-Danlos syndrome type IV (EDS IV) has previously been described. Unlike most cases of EDS IV, fibroblasts from affected members secreted near normal amounts of type III collagen. We have localised the mutation in this family to the CB5 peptide of type III collagen, by using both protein and cDNA mapping techniques. Sequence analysis of cDNA revealed a 27-bp deletion within exon 37, a deletion that removed nine amino acids and maintained the Gly-X-Y repeat of the collagen helix. Further sequencing of genomic DNA confirmed its location, and amplification of DNA from family members showed that it was absent in unaffected individuals but present in all the affected individuals tested. This deletion is flanked by two short direct repeats of CTCC; it may have arisen by slipped mispairing, and has subsequently been transmitted to all affected family members.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197268
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Glucose feeding of intact wheat plants represses the expression of a number of Calvin cycle genes (1996)
    Oxford, UK : Blackwell Publishing Ltd
    Plant, cell & environment 19 (1996), S. 0 
    Details
    ISSN: 1365-3040
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: The photosynthetic capacity and Rubisco levels of primary wheat leaves were reduced significantly in plants grown on media supplemented with 1 % glucose. Neither the chlorophyll content nor the growth rate of the primary leaf was affected by this treatment. In glucose-fed plants a decrease in levels of mRNA encoding several Calvin cycle enzymes (fructose 1,6-bisphosphatase, sedoheptulose 1,7-bisphosphatase, phosphoglycerate kinase and Rubisco Small Subunit) was found to correspond to an increase in the internal levels of glucose. In control plants endogenous levels of glucose and sucrose were measured in leaf sections from the base to the tip of the primary leaf, which revealed a gradient of each of these sugars within the leaf, with the highest levels at the tip. Conversely, Calvin cycle transcripts were seen to decrease in the oldest tip sections. In glucose-fed plants, the endogenous glucose levels were increased throughout the leaf but Calvin cycle RNA levels were most markedly reduced in the mid-leaf section. These data indicate that the changing metabolic status of the cells from the base to the tip of the primary wheat leaf may play a role in the regulation of Calvin cycle gene expression during normal leaf development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-3040.1996.tb00245.x
    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...