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  • 1
    Electronic Resource
    Electronic Resource
    Phosphorylation by cAMP-Dependent Protein Kinase Causes a Conformational Change in the R Domain of the Cystic Fibrosis Transmembrane Conductance Regulator (1994)
    s.l. : American Chemical Society
    Biochemistry 33 (1994), S. 4072-4079 
    Details
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/bi00179a036
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 151-156 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This paper describes an approach that can be used to identify specifically expressed coding sequences in defined regions of genomic DNA. We developed this method to identify expressed sequences from chromosome 7 located at or near the cystic fibrosis (CF) locus. Radioactively labelled single-stranded cDNAs derived from sweat gland epithelial cells and from fibroblasts were used to screen a genomic library constructed from flow-sorted chromosomes. Differential screening of phage lifts with these two probes yielded 36 different DNA segments. By using somatic cell hybrids containing different portions of chromosome 7, four of the clones were mapped to the 7q31 region in which the CF locus is located. These four clones and two others that gave strong differential epithelial signals but that were not within 7q31 were studied further. Restriction fragment length polymorphisms (RFLPs) were identified for two of the DNA segments within 7q31 and used for linkage analysis using a panel of CF families. One DNA segment was assigned to a location centromeric to the met locus. The other marker did not show recombination with CF but was subsequently excluded from the CF region by physical mapping. Three of the six DNA segments were found to hybridize to various RNAs using the Northern technique and therefore contain portions of genes. One of the clones showed strong differential expression when epithelial tissues were compared to fibroblasts and may represent an epithelium-specific gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193187
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Giant and “Granular Melanosomes” in Leopard Syndrome: An Ultrastructural Study (1976)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cutaneous pathology 3 (1976), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Electron microscopy of lentigines was performed to study the pigmentation abnormality in two children with LEOPARD syndrome. Giant melanosomes similar to those seen in café-au-lait spots of neurofibromatosis and nevus spilus were found in a lentigine from one of our cases. Our results show that „spherical granular melanosomes” described in neurofibromatosis, are lysosomal-like structures associated with the development of complex melanin granules. Our study also demonstrates that immature melanosomes are present in some keratinocytes of LEOPARD syndrome. This finding is in contrast to the prevailing concept that only mature melanosomes are transferred to keratinocytes. The occurrence of individual melanosomes of normal size and shape in keratinocytes of skin in whites with LEOPARD syndrome, suggests that neither the size of melanosomes, nor the racial differences are the factors determining the distribution of melanosomes in keratinocytes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0560.1976.tb00865.x
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Over-Expression of the DM-20 Myelin Proteolipid Causes Central Nervous System Demyelination in Transgenic Mice (1995)
    Oxford, UK : Blackwell Science Ltd
    Journal of neurochemistry 64 (1995), S. 0 
    Details
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: We have created transgenic mice bearing varying copy numbers of a transgene coding for normal DM-20, the alternatively spliced quantitatively minor isoform of myelin proteolipid protein. Demyelination of the CNS occurs as a consequence of 70 copies of this transgene. Overt symptoms begin at ∼3 months with a wobbling gait. Occasional seizures lasting a few seconds begin at 3–4 months. These symptoms progress in severity with age. Death occurs by 8–10 months. Myelination in 2-month-old animals, before the onset of any overt symptoms, appears morphologically normal at the electron microscopic level. However, the myelin in these 2-month-old animals has a reduced amount of the major myelin proteolipid protein and about three times as much DM-20 as normal animals. In 7-month-old animals that appear to be undergoing demyelination in the CNS, both the major myelin proteolipid protein and DM-20 are greatly reduced relative to the 2-month-old animal. Mice with 17 copies of the transgene also have a reduced amount of the major myelin proteolipid protein but appear to be otherwise normal and have normal life spans (〉2 yr). Mice with low copy numbers of the transgene (2–4 copies) appear to be unaffected and have normal life spans.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1471-4159.1995.64030967.x
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  • 5
    Electronic Resource
    Electronic Resource
    ASSEMBLY OF FUNCTIONAL CFTR CHLORIDE CHANNELS (2005)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Physiology 67 (2005), S. 701-718 
    Details
    ISSN: 0066-4278
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine , Biology
    Notes: The assembly of the cystic fibrosis transmembrane regulator (CFTR) chloride channel is of interest from the broad perspective of understanding how ion channels and ABC transporters are formed as well as dealing with the mis-assembly of CFTR in cystic fibrosis. CFTR is functionally distinct from other ABC transporters because it permits bidirectional permeation of anions rather than vectorial transport of solutes. This adaptation of the ABC transporter structure can be rationalized by considering CFTR as a hydrolyzable-ligand-gated channel with cytoplasmic ATP as ligand. Channel gating is initiated by ligand binding when the protein is also phosphorylated by protein kinase A and made reversible by ligand hydrolysis. The two nucleotide-binding sites play different roles in channel activation. CFTR self-associates, possibly as a function of its activation, but most evidence, including the low-resolution three-dimensional structure, indicates that the channel is monomeric. Domain assembly and interaction within the monomer is critical in maturation, stability, and function of the protein. Disease-associated mutations, including the most common, ??F508, interfere with domain folding and association, which occur both co- and post-translationally. Intermolecular interactions of mature CFTR have been detected primarily with the N- and C-terminal tails, and these interactions have some impact not only on channel function but also on localization and processing within the cell. The biosynthetic processing of the nascent polypeptide leading to channel assembly involves transient interactions with numerous chaperones and enzymes on both sides of the endoplasmic reticulum membrane.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.physiol.67.032003.154107
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  • 6
    Electronic Resource
    Electronic Resource
    A BUDGET OF RHYME SCHEME COUNTS (1979)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 319 (1979), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Notes: Rhyme schemes, perhaps the oldest combinatorial setting behind the Setting and Bell numbers, are rescued from current neglect by this budget of enumerations. A rhyme scheme for a stanza of n verses is a (number) sequence (r1, r2, …, rn) in which rj may be any of 1, 2, …, dj-1+ 1, with dj the number of distinct numbers among r1, …, rj, the rhyme schemes for n= 3 are: 111, 112, 121, 122, 123. The total number of schemes for n verses is of course the Bell number Bn. They have a trivial mapping of set-partitions but some enumerations familiar in the study of sequences are odd (even idiotic) when rephrased as set-partitions. The budget displayed (by no means exhaustive) is selected for its interest in the study of Bell and Stirling numbers. One surprise is the appearance of refined Bell multivariable polynomials.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1979.tb32823.x
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  • 7
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    Unknown
    Hildegard Emmel, Formprobleme des Artusromans und der Graldichtung: Die Bedeutung des Artuskreises fur das Gefuge des Romans im 12. und 13. Jahrhundert in Frankreich, Deutschland und den Niederlanden (Book Review) (1953)
    Washington, etc. : Periodicals Archive Online (PAO)
    Germanic Review. 28:3 (1953:Oct.) 218 
    Details
    ISSN: 0016-8890
    Topics: German, Dutch and Scandinavian Studies
    Notes: BOOK REVIEWS
    URL: http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pao:&rft_dat=xri:pao:article:1091-1953-003-00-000015
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  • 8
    Electronic Resource
    Electronic Resource
    Phosphorylation-regulated CI − channel in CHO cells stably expressing the cystic fibrosis gene (1991)
    [s.l.] : Nature Publishing Group
    Nature 352 (1991), S. 628-631 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The coding sequence of the cystic fibrosis transmembrane regulator (CFTR) was cloned behind the metallothionein promoter of a plasmid that also contained a mutant dihydrofolate reductase gene, driven by the simian virus 40 early promoter (Fig. la). Stably transformed colonies were selected with ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/352628a0
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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    Cystic Fibrosis: Channel, Catalytic, and Folding Properties of the CFTR Protein (1997)
    Springer
    Journal of bioenergetics and biomembranes 29 (1997), S. 429-442 
    Details
    ISSN: 1573-6881
    Keywords: Cystic fibrosis ; CFTR ; chloride channel ; phosphorylation ATPase ; protein folding ; proteolysis ; proteasome ; ER quality control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract The identification and characterization of the CFTR gene and protein have provided not only a major impetus to the dissection of the molecular pathophysiology of cystic fibrosis (CF) but also a new perspective on the structure and function of the large supeifamily of membrane transport proteins to which it belongs. While the mechanism of the active vectorial translocation of many hydrophobic substrates by several of these transporters remains nearly as perplexing as it has for several decades, considerable insight has been gained into the control of the bi-directional permeation of chloride ions through a single CFTR channel by the phosphorylation of the R-domain and ATP interactions at the two nucleotide binding domains. However, details of these catalytic and allosteric mechanisms remain to be elucidated and await the replacement of two-dimensional conceptualizations with three dimensional structure information. Secondary and tertiary structure determination is required both for the understanding of the mechanism of action of the molecule and to enable a more complete appreciation of the misfolding and misprocessing of mutant CFTR molecules. This is the primary cause of the disease in the majority of the patients and hence understanding the details of the cotranslational interactions with multiple molecular chaperones, the ubiquitin-proteasome pathway and other components of the quality control machinery at the endoplasmic reticulum could provide a basis for the development of new therapeutic interventions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022478822214
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    Paper (German National Licenses)
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  • 10
    Electronic Resource
    Electronic Resource
    Mappings of acyclic and parking functions (1973)
    Springer
    Aequationes mathematicae 9 (1973), S. 299-300 
    Details
    ISSN: 1420-8903
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01832641
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