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  • 1
    Digitale Medien
    Digitale Medien
    Unequal expression of NF1 alleles (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 6 (1994), S. 331-331 
    Details
    ISSN: 1546-1718
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Medizin
    Notizen: [Auszug] Sir — After the cloning of the neurofibromatosistype 1 (NF1) gene in 1990 1–3, numerous groups began to search for causative mutations. Although several hundred patients were included in studies carried out by the members of the NNFF International NF1 Genetic Analysis Consortium, only ...
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1038/ng0494-331
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    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
    Schlagwort(e): Neurofibromatosis type 1 (NF1) ; Melanocyte culture ; NF1 Gene ; Café-au-lait macules
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00373420
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  • 3
    Digitale Medien
    Digitale Medien
    Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2 (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 67-74 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46,XX, r(22)/45,XX,–22. A constitutional G to A transition in the proximal 3′ untranslated region of isoforms 1 and 2 was identified in the patient’s NF2 gene and shown not to affect differential splicing or mRNA stability. The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390050467
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  • 4
    Digitale Medien
    Digitale Medien
    A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2 (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 595-600 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Sequences related to the neurofibromatosis type 1 (NF1) gene have been identified on several human chromosomes. In the centromeric region of chromosomes 14 and 15, two NF1 pseudogenes have been described. Sequence comparison between NF1-related exons amplified from two yeast artificial chromosome clones hybridizing to chromosomal region 15q11.2 and published NF1-related sequences localized at 15q11.2 suggested that a third NF1 pseudogene resides in this chromosomal region. The previous localization of an NF1-related locus to the telomeric part of chromosome 15 could not be confirmed by us. Our findings further support pericentromeric spreading of partial NF1 gene copies at chromosome 15q11.2 during evolution.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390050559
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  • 5
    Digitale Medien
    Digitale Medien
    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
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00204170
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  • 6
    Digitale Medien
    Digitale Medien
    Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 619-623 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract It is commonly held that Schwann cells (SC) are the progenitor cells of benign neurofibromas. To test for loss of heterozygosity (LOH) at the neurofibromatosis 1 (NF1) gene locus, three intragenic polymorphic markers were analyzed after polymerase chain reaction amplification, starting from 98 single SC isolated from primary cultures of neurofibromas of five informative NF1 patients. The patterns obtained did not provide evidence for LOH at the NF1 gene. LOH by nondisjunction, large deletions, or somatic recombination in SC seems not to be the mechanism of generation of neurofibromas.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00197423
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  • 7
    Digitale Medien
    Digitale Medien
    Cell culture studies on neurofibromatosis (von Recklinghausen) (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 453-455 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Cell cultures grown from peripheral neurofibromas of three patients suffering from sporadic peripheral neurofibromatosis (NF) were analysed cytogenetically at early in vitro passages. The NF-cultures exhibited a 6.7-fold higher frequency of aneuploid mitoses, including pseudodiploids, than the control cultures derived from the skin of three healthy donors. The predominant numerical anomaly was monosomy 22. Several, as yet unidentified marker chromosomes occurred in the NF-cultures, which also showed a much higher level of unstable chromosomal anomalies. The role of monosomy 22 in tumorigenesis of meningiomas and neurofibromas is discussed.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00280506
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  • 8
    Digitale Medien
    Digitale Medien
    Restriction analysis of chromosomal sequences homologous to single-copy fragments cloned from small polydisperse circular DNA (spcDNA) (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 249-254 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Restriction fragments from the fraction of small polydisperse circular DNA (spcDNA) were cloned in pBR322. The spcDNA was prepared from cell cultures derived from an angiofibroma of a patient with tuberous sclerosis (TS). Such cultures have been shown previously to contain increased amounts of spcDNA. Four cloned spcDNA fragments containing single-copy sequences were chosen to characterize the homologous chromosomal DNA segments by restriction analysis. When used as hybridization probes, these four fragments generate well-defined nonvariable patterns in the chromosomal DNA from healthy donors. The restriction patterns obtained with one of the fragments (D-C4) can best be interpreted by assuming the presence of two copies of the homologous sequences in chromosomal DNA. A second sequence, A-B4, occurs at least 30–50 times in the haploid human genome. In both cases the duplicated regions span relatively large segments of DNA.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00291164
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  • 9
    Digitale Medien
    Digitale Medien
    A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 685-687 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. This mutation could also be detected in the patient and in his affected daughter by heteroduplex analysis. The deletion removes the proximal half of a small potential stem-loop and interrupts the reading frame in exon 1. A severely truncated protein with a grossly altered carboxy terminus lacking one third of its sequence is expected to be formed from the mutant allele.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00201726
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  • 10
    Digitale Medien
    Digitale Medien
    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
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02272852
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