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  • Springer  (6)
  • Basel : Karger  (1)
  • Berlin : DUZ Verlags- und Medienhaus GmbH  (1)
  • 1
    Book
    Book
    Gute Führung : welche Kernkompetenzen brauchen Rektorate und Präsidien der Universitäten? (2016)
    Berlin : DUZ Verlags- und Medienhaus GmbH
    Details Availability
    Type of Medium: Book
    Pages: 15 Seiten , Illustrationen
    Series Statement: Deutsche Universitätszeitung [72].2016, 16. Dezember, Special
    Language: German
    Note: Beilage zu: Duz - Deutsche Universitätszeitung, 16.12.2016
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  • 2
    Online Resource
    Online Resource
    Neurofibromatoses : an overview of recent findings with a focus on genetics and molecular biology (2008)
    Basel : Karger
    Details Availability
    Keywords: Neurofibromatoses genetics ; Neurofibromatoses physiopathology ; Dermatology ; Genetics ; Genomics ; Molecular Biology ; Neurology ; Neurosurgery ; Pediatrics
    Description / Table of Contents: The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with.This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists
    Type of Medium: Online Resource
    Pages: X + 192 S
    Edition: Online-Ausg. Online-Ressource Karger eBooks Collection 1997-2009
    ISBN: 9783805585217
    Series Statement: Monographs in human genetics 16
    URL: http://dx.doi.org/10.1159/isbn.978-3-8055-8521-7
    URL: https://karger.com/books/book/2612
    DOI: 10.1159/isbn.978-3-8055-8521-7
    RVK:
    XH 8600
    Language: English
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  • 3
    Electronic Resource
    Electronic Resource
    Analysis of an alternatively spliced exon of the neurofibromatosis type 1 gene in cultured melanocytes from patients with neurofibromatosis 1 (1995)
    Springer
    Archives of dermatological research 287 (1995), S. 413-416 
    Details
    ISSN: 1432-069X
    Keywords: Neurofibromatosis type 1 (NF1) ; Melanocyte culture ; NF1 Gene ; Café-au-lait macules
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1) is characterized by clinical features that primarily affect tissues derived from the neural crest (neurofibromas, café-au-lait macules). Because aberrant regulation of alternative splicing in the NF1 gene transcript may be of functional significance, cultured melanocytes from café-au-lait macules (CALM), as an example of benign NF1 lesions, were examined for the expression of the different alternative splice products of this gene. Both kinds of NF1 messengers (type 1 and 2) were found not only in CALM melanocytes but also in keratinocytes, fibroblasts and blood cells. Except in blood cells, there was a predominance of the type 2 transcript. Melanocytes from NF1 patients and healthy donors showed similar expression patterns under several culture conditions. Our results suggest that the development of CALM does not correlate with a switch in the ratio of type 1 to type 2 NF1 messenger RNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00373420
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  • 4
    Electronic Resource
    Electronic Resource
    Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 367-371 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. A total of 170 unrelated NF1 patients were screened for mutations in four exons by temperature-gradient gel electrophoresis. Preparatory work revealed the presence of a previously uncharacterized intron (19a) in what was previously designated exon 19; this allowed us to develop assays for genomic mutation screening in the newly defined exons 19a and 19b. Two novel NF1 mutations were detected: a single-base insertion in exon 19a creating a frameshift, and a second mutation affecting the splice donor site of intron 20 and leading to skipping of exon 20. A novel BsaBI polymorphism was identified in intron 19a.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050706
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  • 5
    Electronic Resource
    Electronic Resource
    Analysis of segregation and expression of an identified mutation at the neuroflbromatosis type 1 locus (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 356-359 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase chain reaction amplification of the segment carrying the mutation revealed that both alleles were expressed in both cell types analysed, thus excluding loss of heterozygosity in this particular instance. Segregation of the alleles of the intragenic Alu sequence length-polymorphism disclosed the paternal orgin of the mutated allele. Detection of this mutation was also used for presymptomatic direct DNA diagnosis in the younger child of the patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220458
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  • 6
    Electronic Resource
    Electronic Resource
    Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 95-98 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We screened a total of 92 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 37 of the NF1 gene, by using temperature gradient gel electrophoresis. Two novel mutations were found: a 4 bp deletion in a so-called quasi-symmetric element (6789delTTAC) and a recurrent nonsense mutation, which was identified in two unrelated patients, at codon 2264 (C6792A). The independent origin of the latter mutation in two families was confirmed by haplotype analysis. The nonsense mutation and the 4 bp deletion are both predicted to lead to a truncated protein product lacking the Cterminal 20% (aproximately) of its sequence. The occurrence of three independent mutations among 92 NF1 patients at codons 2263–2264 (exon 37) suggests that a specific search for mutations in this area should be undertaken in screening programs for NF1 mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00214193
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  • 7
    Electronic Resource
    Electronic Resource
    Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1) (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 144-150 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Melanocyte cultures from the normally pigmented skin of patients with neurofibromatosis 1 (NF 1) have a higher melanin content than those from the skin of healthy donors. An additional increase in the amount of melanin per cell was found in 5 out of 6 lines of melanocytes derived from café au lait macules of NF 1 patients. Omission of the tumor promoter phorbol-12-myristate-13-acetate from the culture medium brings about a comparable increase in the melanin content in all three kinds of melanocyte cultures. Cultures of NF 1 melanocytes show a higher tyrosine hydroxylase activity than those of control melanocytes, and incorporate larger amounts of dihydroxyphenylalanine than the latter. We conclude that melanogenesis in epidermis melanocytes is affected by defective alleles of the NF 1 gene. Our findings do not contradict the hypothesis that the defect underlying NF 1 impairs the inhibition of a wild-type RAS oncogene by interfering with the GTPase-activating function of the NF 1 gene product.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00204170
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  • 8
    Electronic Resource
    Electronic Resource
    A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 97-100 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A new mutation, the first one close to the 5′-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 by of exon 3 precisely from the cDNA. Genomic Southern blots revealed a larger deletion with breakpoints within the introns flanking exon 3. This mutation suggests that the amino-terminal region of neurofibromin is functionally significant. When using this mutation to distinguish the wild type and mutant alleles, their expression could be analysed in neurofibroma fibroblasts, melanocytes from the unaffected skin, and those from a café-au-lait macule. In all these cell types, the products of both alleles were detected, confirming similar results obtained with a different NFl gene mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02272852
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