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 base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 681-687 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular investigations on a young patient and her family were undertaken to identify the molecular defect responsible for a mild form of osteogenesis imperfecta (OI) with blue sclerae, dentinogenesis imperfecta and joint laxity. Analysis of collagenous proteins from the proband's fibroblasts showed the presence of two populations of α2(I) chains, one normal and one migrating faster on SDS gels, thereby suggesting deletion of amino acid sequences. The faster migrating chains were retained mainly in the cell layer and not found in the extracellular matrix deposited by cultured fibroblasts. Chemical cleavage of mismatch (CCM) analysis on the patient's proα2(I) mRNA:normal cDNA heteroduplexes localized the molecular defect. cDNA sequencing revealed a deletion of exon 20 (54 bp) in about half of the molecules. Genomic DNA sequencing revealed heterozygosity for a G-to-C transversion of the last nucleotide of intron 19, which changed the 3′ consensus splicing site. As a consequence proα2(I)mRNA was abnormally spliced from the last codon of exon 19 to the first codon of exon 21. To our knowledge, this is the first acceptor site mutation so far described in an OI patient. Restriction analysis indicated that the mutation was present also in three other affected family members. The full sequence of COL1A2 introns 19 and 20 are reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201570
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    1H-NMR Study of Cholesterol Autooxidation in Egg Powder and Cookies Exposed to Adverse Storage (1993)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of food science 58 (1993), S. 0 
    Details
    ISSN: 1750-3841
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Process Engineering, Biotechnology, Nutrition Technology
    Notes: The level of cholesterol oxides depends on the production and storage conditions for food. We studied the effect of prolonged storage, heat, and diffuse daylight on spray-dried egg powder and cookies containing large amounts of cholesterol. The cholesterol oxides were isolated by chromatographic procedures, and were identified by recording 1H-NMR spectra of selected HPLC fractions. Autooxidation was quite slow when the sample was stored in a freezer at — 20°C. Diffuse daylight increased the amounts of β-epoxide of cholesterol, whereas heating caused a sharp increase in C-7 oxidized cholesterol derivatives. Extent of cholesterol oxidation depended on storage conditions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2621.1993.tb06167.x
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    High-Resolution NMR Detection of Cholesterol Oxides in Spray-Dried Egg Yolk (1992)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of food science 57 (1992), S. 0 
    Details
    ISSN: 1750-3841
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Process Engineering, Biotechnology, Nutrition Technology
    Notes: A new approach, alternative to currently available methods, for studying cholesterol oxidation in egg powder is reported. The quantitative analysis of cholesterol oxides was carried out by high-resolution proton nuclear magnetic resonance (1H-NMR). The following oxides were isolated from spray-dried egg powder by rapid chromatographic procedures and detected by selecting “marker”1H-NMR signals: 7-ke-tocholesterol, 7α-hydroxy-cholesterol, 7β-hydroxy-cholesterol, cholesterol-α-epoxide and cholesterol-β-epoxide. The quantified cholesterol derivatives ranged from 4.9 to 9.1 ppm with a detection limit of 0.3 ppm (5 μ.g from 16g of matrix). The main usefulness of the method should be in investigating intermediates and products due to chemical transformation of cholesterol during storage and heating of foodstuffs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2621.1992.tb14312.x
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Multicystic kidney dysplasia and Turner syndrome: two cases and a literature review (2000)
    Springer
    Pediatric nephrology 14 (2000), S. 754-757 
    Details
    ISSN: 1432-198X
    Keywords: Key words Multicystic dysplastic kidney ; Turner syndrome ; Literature review
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Renal malformations occur in 33%–70% of cases of Turner syndrome (chromosome 45 and variants). We describe two cases of multicystic dysplastic kidney in Turner syndrome. A literature review of renal abnormalities in Turner syndrome shows the frequency of cystic disease to be 1.76%. In multicystic dysplastic kidney, diagnostic investigation of the contralateral kidney, including voiding cystourethrography, is necessary in view of the high incidence of associated diseases (15%–20% of cases, vesicoureteric reflux) and other anomalies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00013430
    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...