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  • 1
    Electronic Resource
    Electronic Resource
    Promoter swapping between the genes for a novel zinc finger protein and β-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations (1997)
    [s.l.] : Nature Publishing Group
    Nature genetics 15 (1997), S. 170-174 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have constructed a YAC contig and long range physical map spanning the 8ql2 translocation breakpoints of primary pleiomorphic adenomas (data not shown). To narrow down the breakpoint cluster region, we isolated cosmids corresponding to landmarks within this contig (Fig. la). By FISH, we ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0297-170
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  • 2
    Electronic Resource
    Electronic Resource
    Exclusive paternal origin of new mutations in Apert syndrome (1996)
    [s.l.] : Nature Publishing Group
    Nature genetics 13 (1996), S. 48-53 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Apert syndrome results from one or other of two specific nucleotide substitutions, both C→G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. The frequency of new mutations, estimated as 1 per 65,000 live births, implies germline transversion rates at these two positions ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0596-48
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  • 3
    Electronic Resource
    Electronic Resource
    Patterns of expression of intermediate filaments in ameloblastoma and human fetal tooth germ (1989)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of oral pathology & medicine 18 (1989), S. 0 
    Details
    ISSN: 1600-0714
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Monoclonal antibodies (Mab) were used to study the expression of cytokeratins and vimentin in various histological types of ameloblastoma and in human fetal tooth germ. The ameloblastoma and the tooth germ epithelia showed characteristics of both simple glandular and stratified squamous epithelial cells. Cytokeratin No. 18 was detected focally in most ameloblastomas studied but not in fetal odontogenic epithelia. Cytokeratins Nos. 8 and 19 were expressed in all epithelial elements of ameloblastomas and tooth germs. Only two tumors showed focally characteristics of keratinizing epithelia also seen in dental lamina but not in the enamel organ. All tumors except the granular cell ameloblastoma showed a variable coexpression of vimentin and cytokeratins in their neoplastic epithelia. A similar coexpression was detected in the stellate reticulum cells of the developing tooth. Ameloblastoma and human tooth germ epithelia share complex pattern of cytokeratin polypeptides together with coexpression of vimentin. The results strongly support the theory that ameloblastomas are of odontogenic origin and not direct derivatives of basal cells of oral epithelium or epidermis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0714.1989.tb00395.x
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  • 4
    Electronic Resource
    Electronic Resource
    Cellular schwannoma (1990)
    Springer
    Virchows Archiv 416 (1990), S. 237-248 
    Details
    ISSN: 1432-2307
    Keywords: Neurilemoma ; Pseudosarcoma ; Electron microscopy ; Immunohistochemistry ; Cytogenetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A series of 29 cellular schwannomas is described in terms of their clinical presentation and course, light and electron-microscopic appearance, immunohistochemical properties and cytogenetics. The study indicates that cellular schwannoma can be defined as a subtype of classical schwannoma, characterized by spindle cells forming a compact fascicular, sometimes fibrosarcoma-like growth pattern, a low mitotic activity, a generally moderate nuclear and cellular polymorphism and a high degree of Schwann cell differentiation as seen by electron microscopy and immunohistochemistry. The tumour is characteristically located close to the vertebral column, in the mediastinum or retroperitoneum and has a benign course. Occasionally bone destruction and neurological symptoms develop. The clinical appearance together with the high cellularity, fascicular pattern and mitotic activity had led to the erroneous diagnosis of a soft tissue sarcoma in a few cases, and cellular schwannoma may thus be considered to be a pseudosarcoma. Immunohistochemically, cellular schwannomas appear to deviate from classical schwannomas and malignant peripheral nerve sheath tumours by their expression of glial fibrillary acidic protein. The chromosome analysis revealed a normal diploid stemline karyotype, with a variety of abnormal clones, including one with monosomy 22.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01678983
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  • 5
    Electronic Resource
    Electronic Resource
    Morphological and cytogenetic studies of angiosarcoma in Stewart-Treves syndrome (1991)
    Springer
    Virchows Archiv 419 (1991), S. 439-445 
    Details
    ISSN: 1432-2307
    Keywords: Angiosarcoma ; Cell culture ; Cytogenetics ; Lectins ; Stewart-Treves syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A morphological and cytogenetic analysis of a multifocal angiosarcoma in a typical case of Stewart-Treves syndrome is reported. The morphological analysis indicated differentiation along both blood and lymph vessel endothelium lines. By light and electron microscopy there were areas with well-developed erythrocyte-containing, capillary-like vessels and poorly differentiated areas with abortive vascular formations. In these the endothelium revealed immunoreactivity to factor VIII RAg, binding ofUlex europaeus I andPsophocarpus tetragonolobus agglutinin lectins, Weibel-Palade bodies ultrastructurally and presented a continuous enclosing external lamina and immunoreactivity for laminin and collagen IV, all features of blood-vessel differentiation. There were also lymphangioma-like areas as well as poorly differentiated areas where the immunohistochemical, lectin-binding and ultrastructural features were compatible with a lymph vessel differentiation. Cytogenetic analysis of cultured tumour cells revealed chromosome counts in the diploid region. About 40% of the cells analysed had a normal diploid karyotype. The remaining cells showed a multitude of mainly nonclonal structural alterations; 17 unique marker types resulting from different translocations and deletions were observed. There were also a few cells with clonal numerical deviations showing monosomy 22, monosomy X and trisomy 2 respectively. It is of interest that the losses of chromosome 22 and the X chromosome also have been observed in Kaposi's sarcoma and that the PD-ECGF gene, a novel angiogenetic factor, has been mapped to chromosome 22.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01605079
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  • 6
    Electronic Resource
    Electronic Resource
    Fusion of the NH 2 -terminal domain of the bHLH protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9; 15)(q22; q21) (2001)
    [s.l.] : Nature Publishing Group
    Nature genetics 27 (2001), S. 87-87 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Extraskeletal myxoid chondrosarcomas (EMC) are characterized by recurrent t(9; 22) or t(9; 17) translocations resulting in fusions of the NH2-terminal transactivation domains of EWS or TAF2N to the entire TEC protein. We report an EMC with a new translocation, t(9; 15)(q22; q21), and a third type ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/87300
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  • 7
    Electronic Resource
    Electronic Resource
    Fusion of the NH2-terminal domain of the bHLH protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21) (2001)
    [s.l.] : Nature Publishing Group
    Nature genetics 27 (2001), S. 89-89 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Extraskeletal myxoid chondrosarcomas (EMC) are characterized by recurrent t(9;22) or t(9;17) translocations resulting in fusions of the NH2-terminal transactivation domains of EWS or TAF2N to the entire TEC protein. We report here an EMC with a novel translocation t(9;15)(q22;q21) and a third type ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/87314
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  • 8
    Electronic Resource
    Electronic Resource
    Genetic analysis of tumorigenesis: XXXII. Localization of constitutionally amplifiedKRAS sequences to Chinese hamster chromosomes X and Y by in situ hybridization (1988)
    Springer
    Somatic cell and molecular genetics 14 (1988), S. 639-644 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The KRASgene is constitutionally amplified in the Chinese hamster. We have mapped the amplified sequences by in situ hybridization to two major sites on the X and Y chromosomes, Xq4 and Yp2. No autosomal site was detected despite a search under relaxed hybridization conditions. KRASDNA is amplified about 50-fold compared to a human cell line known to have a diploid number of KRASsequences, whereas mRNA expression is 5- to 10-fold lower than in normal human cells. While mRNA expression levels do not necessarily parallel gene copy number, the low expression level strongly suggests that the amplified sequences are transcriptionally silent. It is suggested that the amplified sequences arose from the original KRASgene on chromosome 8 and that the KRASsequences on the Y chromosome arose by X-Y recombination.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01535317
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  • 9
    Electronic Resource
    Electronic Resource
    Chromosomal localization of three human genes encoding bone morphogenetic protein receptors (1999)
    Springer
    Mammalian genome 10 (1999), S. 299-302 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Bone morphogenetic proteins (BMPs) are members of the TGF-β superfamily that play a pivotal role in bone formation during embryogenesis and fracture repair. BMP signaling occurs via hetero-oligomeric serine/threonine kinase complexes of BMP type I (BMPR-IA or BMPR-IB) and type II receptors (BMPR-II). BMPR-IA and IB are closely related receptors, with sequence differences conserved between different species, suggesting that they serve distinct functions. Here we report the cDNA cloning of human BMPR1B and the chromosomal localization of all three BMPR genes. Using somatic cell hybrid and FISH analyses, the BMPR1A, BMPR1B, and BMPR2 genes were assigned to 10q23, 4q22-24, and 2q33-34, respectively. A processed BMPR1A pseudogene was mapped to 6q23.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003359900990
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