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  • 1995-1999  (5)
Source
Material
Years
Year
  • 1
    Electronic Resource
    Electronic Resource
    Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene (1996)
    Springer
    Human genetics 〈Berlin〉 99 (1996), S. 88-92 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. It is caused by mutations in the NF1 gene which comprises 60 exons and is located on chromosome 17q. The NF1 gene product, neurofibromin, displays partial homology to GTPase-activating protein (GAP). The GAP-related domain (GRD), encoded by exons 20–27a, is the only region of neurofibromin to which a biological function has been ascribed. A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. Sixteen different lesions in the NF1 GRD region were identified in a total of 20 patients. Of these lesions, 14 are novel and together comprise three missense, two nonsense and three splice site mutations plus six deletions of between 1 and 4 bp. The effect of one of the missense mutations (R1391S) was studied by in vitro expression of a site-directed mutant and GAP activity assay. The mutant protein, R1391S, was found to be some 300-fold less active than wild-type NF1 GRD. The mutations reported in this study therefore provide further material for the functional analysis of neurofibromin as well as an insight into the mutational spectrum of the NF1 GRD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050317
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 674-676 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients. These lesions include three nonsense and two missense mutations, two deletions, one duplication, and one mutation in the 5′ splice site of intron 16. Although exon 16 is the largest NF1 exon, no mutations have so far been reported in this region. This apparent paucity of lesions may be due either to a reduced functional importance of exon 16 or a screening bias or both. However, consideration of the mutability of exon 16 in comparison with other exons suggests that, at least for single base pair substitutions, no such factors need be invoked. Any previous lack of exon 16 mutations in this category would be explicable in terms of a lower propensity to mutate for codons in this gene region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050427
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Development of seed coat-imposed dormancy during seed maturation in Cynoglossum officinale (1996)
    Oxford, UK : Blackwell Publishing Ltd
    Physiologia plantarum 97 (1996), S. 0 
    Details
    ISSN: 1399-3054
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: The relationship between seed phenolics and appearance of seed coat–imposed dormancy during seed development in Cynoglossum officinale L. was studied. Up to 24 days after anthesis, seeds failed to germinate upon imbibition in Petri dishes at 25°C. At 44 days after anthesis, seeds were fully germinable; removal of seed coats did not improve their germination or O2 uptake. At 72 days after anthesis, mature seeds at the base of the cyme did not germinate unless their coats were removed. Removal of seed coat also stimulated O2 uptake at this harvest date. The methanol-soluble phenolic content of the seeds increased during the early stages of seed development, in both the seed coat and the embryo. As seed development continued, the methanol-soluble phenolic content of the embryo stabilized, but that of the seed coat declined. This decline was associated with an increase in the thioglycolic acid–soluble phenolics, presumably lignins, in the seed coat. These results suggest that polymerization of methanol–soluble phenolics into lignins in the seed coat during later stages of seed development renders the seed coat of C. officinale impermeable to 03, and thus keeps the seed dormant.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1399-3054.1996.tb00474.x
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  • 4
    Electronic Resource
    Electronic Resource
    Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 591-597 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mutation screening in neurofibromatosis type 1 (NF1) families has long been hampered by the complexity of the NF1 gene. By using a novel multi-track screening strategy, 67 NF1 families (54 two-generation, 13 three-generation) with a de novo mutation in the germline of the first generation were studied with two extragenic and 11 intragenic markers. The pathological lesion was identified in 31 cases. Loss of heterozygosity (LOH) in the affected individual revealed a gross gene deletion in 15 of the two-generation families; in 12 (80%) of them, the deletion was maternally derived. Eleven patients with a gross deletion exhibited developmental delay, ten had dysmorphic features and six manifested a learning disability. No gross deletion was apparent in any of the 13 three-generation families, suggesting that such lesions are subject to more intense selection. In these families, the new mutation was of paternal origin in 11 kindreds and the underlying mutational event could be characterised in three of them.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050746
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations (1999)
    Springer
    Human genetics 〈Berlin〉 105 (1999), S. 327-332 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The neurofibromatosis type 1 (NF1) gene located at 17q 11.2 contains 60 exons and spans 350 kb of genomic DNA. Mutation analysis has been hampered by the large size of the gene, the high rate of new mutations, a lack of mutational clustering and the presence of numerous homologous loci. Mutation detection methods based on the direct analysis of a gene's RNA transcript permit the rapid screening of large multi-exonic genes. However, the detection of frame-shift or nonsense mutations can be limited by instability of the mutant mRNA species due to nonsense-mediated decay. In order to determine the frequency of this allelic exclusion, total lymphocyte RNA was analysed from 15 NF1 patients with known truncating mutations and a panel of 40 NF1 patients with unknown mutations. The level of expression of the mutant message was greatly reduced in 2 of the 15 samples (13%), and 3 of the 18 informative samples from the panel of 40. A coupled reverse-transcription polymerase chain reaction and protein truncation test method was subsequently applied to screen RNA from the panel of 40 unrelated NF1 patients. Aberrant polypeptide bands were identified and characterised in 21 samples (53%). The mutations identified were 479del107;ins31, 495delTGTT, 1127delTGAT, R416X, R440X, 1446del 62, 1541delAG, 2252del 74, 2537insTG, 3456delACTC, R1276X, R1362X, 5749ins171, 6084del280, 6487insA, R2214X, 6791insA, 6858del141, 7458delC, 7676 2A-G and 8081delC. These mutations were uniformly distributed across the gene and 14 represent novel changes that contribute to the germline mutational spectrum of the NF1 gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900135
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    Paper (German National Licenses)
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