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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 56 (1978), S. 733-741 
    ISSN: 1432-1440
    Keywords: Cytogenetics ; Carcinogens ; Mutation ; Cytogenetik ; Cancerogenese ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Chromosomenanomalien sind auf vielfältige Weise mit malignen Erkrankungen verknüpft. Die vorliegende Übersicht gliedert die bisher bekannten Daten beim Menschen unter den Gesichtspunkten: Chromosomenanomalien a) als Ursache von Tumoren, b) als Indikator von Tumoren, c) als Indikator für Cancerogene. Die noch unvollständigen Daten beim Menschen werden, wo das sinnvoll erscheint, durch Befunde der experimentellen Onkologie ergänzt und interpretiert.
    Notes: Summary Multiple connections exist between chromosomal aberrations and malignant tumors. It is the aim of the present article to summarize the data known so far in view of i) cancer-prone chromosome abnormalities, ii) chromosome abnormalities related to tumors and iii) chromosome abnormalities related to carcinogens. In some instances it seemed useful to discuss the findings in man in connection with the results of in vitro experimental data.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Four percent of human severe combined immunodeficiency cases are caused by a deficiency of the enzyme purine nucleoside phosphorylase (PNP). In this study we investigated the molecular basis for this rare autosomal recessive disease. Sequence analyses led to the identification of two new mutations in the PNP gene: an A to G transition in exon 5, which leads to the substitution of tyrosine 192 by a cysteine residue, and a 1-bp deletion in exon 6, which causes premature translation termination of the PNP protein. Both PNP mutations affect predicted major structural motifs of the protein and result in posttranslational instability of the enzyme.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an identification of 79% of all CF mutations and a complete genotype in 66% of the families. The most common mutation found was ΔF508 (67%). Another 5 mutations accounted for a further 12.5% (4% G542X; 3% R553X; 3% N1303K; 2% 1717-1 G→A; 0.5% G551D) whereas 6 mutations (R117H, A455E, ΔI507, S549I, S549N, and R1162X) were not found. Fifty-four (49%) patients were AF508 homozygotes and 18 (16.5%) were compound heterozygotes for ΔF508 and one of the rarer mutations. These frequencies differ slightly from those found in the north of Germany and considerably from those reported from the south of Europe, which seems to be consistent with a north to south decline of the relative abundance of ΔF508. Two patients, age 6 and 25 years, were compound heterozygotes for G542X and N1303K. The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet only mild pulmonary complications whereas the 25 year old manifested severe pulmonary and gastrointestinal symptoms indicating that the N1303K mutation of the C-terminal CFTR nucleotide binding fold significantly impairs protein function in both the pancreas and the lungs.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Glycogenosis ; Granulocytopenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 141 (1984), S. 134-142 
    ISSN: 1432-1076
    Keywords: Oncogene ; Recombinant DNA techniques ; Carcinogenesis ; Retrovirus ; Chromosomal aberrations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recent applications of recombinant DNA techniques in cancer research led to the detection of cellular genes with potential transforming activity, called oncogenes (c-onc). Regularly they seem to be involved in normal cell differentiation and proliferation: a number of oncogene-encoded proteins specifically phosphorylates tyrosine, a key reaction in growth control. Certain human tumors exhibit activated forms of these genes and DNA fragments isolated from these neoplasms transform nonneoplastic cells (transfection assay). Oncogenes were first discovered and defined in a number of retroviruses; these viral oncogenes (v-onc) are thought to have been derived from the cellular oncogenes (c-onc). By integration of the v-onc genes into the host genome acute neoplastic transformation of the cell may occur. Several modes of oncogene activation are discussed that lead either to an increased dosage of gene product or to the formation of an altered gene product. The localization of oncogenes in the human genome near the breakpoints of specific chromosome aberrations involved in various neoplasms like Burkitt lymphoma and several leukemias emphasizes the importance of these genes in carcinogenesis.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 187-190 
    ISSN: 1432-1076
    Keywords: Subacute sclerosing panencephalitis ; HLA-system ; Interferon treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper describes the very rare occurrence of subacute sclerosing panencephalitis (SSPE) in two siblings: a Turkish boy and his younger sister. The clinical picture was characteristic, and the diagnosis was confirmed in both cases by appropriate laboratory examination. The interval between the occurrence of the first neurological symptoms in the boy, and subsequently in the girl was four years. Study of HLA- and 27 other polymorphic marker-systems did not reveal linkage to one of the systems tested. Therapeutic trials in the girl included intravenous and intraventricular application of a total of 87×106 U human fibroblast interferon (Hu INF-β) over 21 days. However, up to 3 months after the end of interferon administration there were no significant changes in the girl's condition.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Acute lymphoblastic leukaemia ; Relapse ; Clonality ; Gene rearrangement
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To increase our knowledge of the clonal relationship of leukaemia relapse, the genotypes and phenotypes of ten children with acute lymphoblastic leukaemia (ALL) were examined at initial diagnosis and relapse. Seven patients were phenotyped as common ALL, two as mixed, and one as T-cell ALL (T-ALL). Comparative analyses of immunoglobulin (Ig) heavy and light chain as well as T-cell receptor β-chain (Tβ) sequences revealed clonal variations, i.e. appearance of a novel or an evoluted leukaemic cell clone in five patients coinciding with the loss of common acute lymphoblastic leukaemic antigen (CALLA) in four cases, irrespective of early or late relapse. Conversion of early B- to T-ALL or lymphoblastic to non-lymphoblastic leukaemia was not noted in any of the patients examined. Our results suggest that clonal variation is a frequent event in childhood ALL.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Key words Promyelocytic ; leukaemia ; Atypical translocation ; Rearrangement ; reverse transcribed ; polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a 16-year-old girl who presented with anaemia, thrombocytopenia, leukocytosis and disseminated intravascular coagulation. Bone marrow analysis showed promyelocyte-like myeloblasts with rare Auer rods and very few granula. CD2 antigen was not expressed in bone marrow blasts. Karyotype analysis revealed a complex pattern of chromosomal aberrations without the promyelocytic leukaemia (PML) specific translocation t(15;17) (q22;q21). Southern blot analysis revealed a rearrangement of the retinoic acid receptor alpha (RARα) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RARα fusion transcript. Conclusion This case report confirms that a characteristic translocation t(15;17) is not always detectable in PML blasts by karyotype analysis despite presence of specific PML/RARα-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 146 (1987), S. 162-165 
    ISSN: 1432-1076
    Keywords: Neuroblastoma ; Molecular genetic ; Oncogene ; N-myc ; Amplification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Genomic configuration and expression of the N-myc gene was investigated by Southern and Northern blot analyses in 18 neuroblastomas of different clinical stages. We observed a 4-100-fold amplification of this oncogene in one of six stage III, two of four stage IV as well as one of five stage IVS tumours. Remarkably, an 80-fold N-myc amplification was demonstrated in a patient with stage IV neuroblastoma being in remission for more than 2 years; moreover, a 100-fold amplification could be detected in a stage IVS tumour from a newborn. These data are discussed in view of the recently postulated close association of N-myc amplification with rapid progression of neuroblastomas.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1076
    Keywords: Promyelocytic leukaemia ; Atypical translocation ; Rearrangement ; reverse transcribed polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a 16-year-old girl who presented with anaemia, thrombocytopenia, leukocytosis and disseminated intravascular coagulation. Bone marrow analysis showed promyelocyte-like myeloblasts with rare Auer rods and very few granula. CD2 antigen was not expressed in bone marrow blasts. Karyotype analysis revealed a complex pattern of chromosomal aberrations without the promyelocytic leukaemia (PML) specific translocation t(15;17) (q22;q21). Southern blot analysis revealed a rearrangement of the retinoic acid receptor alpha (RARα) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RARα fusion transcript. Conclusion This case report confirms that a characteristic translocation t(15;17) is not always detectable in PML blasts by karyotype analysis despite presence of specific PML/RARα-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
    Type of Medium: Electronic Resource
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