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  • 1
    Digitale Medien
    Digitale Medien
    Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11 (1991)
    s.l. : American Chemical Society
    Biochemistry 30 (1991), S. 1350-1357 
    Details
    ISSN: 1520-4995
    Quelle: ACS Legacy Archives
    Thema: Biologie , Chemie und Pharmazie
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1021/bi00219a027
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  • 2
    Digitale Medien
    Digitale Medien
    Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma (1997)
    [s.l.] : Nature Publishing Group
    Nature genetics 15 (1997), S. 95-98 
    Details
    ISSN: 1546-1718
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Medizin
    Notizen: [Auszug] Our previous fluorescent in situ hybridization (FISH) studies showed that the DP breakpoint on ring chromosomes 22 was telomeric to the LIF gene2 which is located on 22ql2 (ref. 9). We utilized the DP tumour T94796, which contains the t(17;22)(q22;q!3) translocation3, to clone the breakpoint. The ...
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1038/ng0197-95
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  • 3
    Digitale Medien
    Digitale Medien
    Application of DNA filter hybridization and PCR to distinguish between human and non-human tissues of poor quality (1993)
    Springer
    International journal of legal medicine 105 (1993), S. 307-309 
    Details
    ISSN: 1437-1596
    Schlagwort(e): Species identification ; Long-term storage ; Human or non-human origin ; PCR ; Southern blot hybridization ; Spezies-Identifizierung ; Langzeitlagerung ; Menschliche oder nicht-menschliche Herkunft ; PCR ; Southern-Blot-Hybridisierung
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin , Rechtswissenschaft
    Beschreibung / Inhaltsverzeichnis: Zusammenfassung Der vorliegende Bericht beschreibt eine neuartige Strategie für die Identifizierung von menschlichen oder nicht-menschlichen Geweben nach Langzeitlagerung in schlecht erhaltenem Zustand. Die Anwendung der PCR-Technik (Polymerase Kettenreaktion) mit Hilfe humanspezifischer Starter sowie mit Hilfe der Southern Blot-Hybridisierung der Proben-DNA mit einer Primaten-spezifischen DNA-Sonde versetzte uns in die Lage, die positive Identifizierung jenseits der Nachweisgrenzen konventioneller Methoden, wie serologische und morphologische Untersuchungen auszudehnen.
    Notizen: Summary The present report describes a novel approach for the identification of human or non-human specimens after long-term storage in a badly preserved state. The application of the PCR-technique (polymerase chain reaction) using human-specific primers as well as Southern blot (filter) hybridization of the sample DNA to a primate-specific DNA probe enabled us to extend the positive identification beyond the limits of conventional methods such as serological or morphological examinations.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01222112
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  • 4
    Digitale Medien
    Digitale Medien
    Differential expression of mucins and trefoil peptides in native epithelium, Barrett's metaplasia and squamous cell carcinoma of the oesophagus (1999)
    Springer
    Journal of cancer research and clinical oncology 125 (1999), S. 71-76 
    Details
    ISSN: 1432-1335
    Schlagwort(e): Key words Oesophagus ; TFF ; Trefoil peptide ; Mucin ; Expression
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Background and aims: In humans, trefoil peptides (TFF peptides) and some mucins have been reported to be expressed in a cell-specific manner at mucosal surfaces of normal gastrointestinal tissues. Neoplastic conditions cause characteristic changes of these expression patterns. To study such patterns in Barrett's metaplasia and squamous cell carcinoma of the oesophagus (SCC), the distribution of MUC1, MUC2, MUC5AC and the three TFF peptides (TFF1, TFF2 and TFF3) was investigated. Methods: In 40 archival samples of SCC and in 21 samples of Barret's metaplasia, expression of the three mucins and two TFF peptides (TFF1 and TFF2) was assessed by specific antibodies. Reverse transcriptase/polymerase chain reaction amplification (RT-PCR) was performed on frozen tissue samples from the 11 biopsies of SCC for the three TFF peptides. Results: Immunohistochemical tests for MUC2 and TFF2 were negative both in samples of Barret's metaplasia and in SCC. MUC1 expression was detected in 57.5% of the tumour samples, while TFF1 and MUC5AC were found in 10% and 7.5% of the cases respectively. In Barrett's metaplasia MUC1 was detected in 90.5% of the cases and TFF1 and MUC5AC in all of them. RT-PCR analysis revealed a more complex pattern: TFF1 and TFF3 expressed the corresponding mRNA in all samples investigated; the third member, TFF2, was active in 45.5% of the carcinoma biopsies and not in the corresponding native tissue. Conclusions: This finding in oesophageal carcinoma contrasts with the situation found in normal and neoplastic stomach epithelium where TFF1 and TFF2 are found co-expressed and TFF3 remains silent. Interestingly, MUC1 is expressed in a significant proportion of SCC. Both in Barett's metaplasia and in SCC the expression of MUC5AC mirrors the TFF1 synthesis in intensity and spatial distribution.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004320050244
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  • 5
    Digitale Medien
    Digitale Medien
    Debrisoquine hydroxylase gene polymorphism in meningioma (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 472-474 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Meningioma ; Detoxification gene Mutation ; Polymerase chain reaction
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Cytochrome P450 CYP2D6 polymorphism is an autosomal recessive trait associated with impaired debrisoquine metabolism in 5–10% of caucasian populations. This polymorphism has been associated with susceptibility to Parkinson's disease, bladder cancer, various forms of leukemia and possibly melanoma. In many other cancer forms, the data remained contradictory due to the technical limitations for identifying affected individuals (poor metabolizers). A recently developed polymerase chain reaction-based assay allows convenient screening of approximately 80% of known mutations. We have tested brain tumors correlated with chromosome 22 deviations for genetic polymorphism in the cytochrome P450 CYP2D6 locus localized on chromosome 22q13. Thirty-one meningioma samples were analyzed and the observed frequency of heterozygotes and homozygotes for the G to A mutation did not deviate significantly from the distribution in a normal population. These data are comparable to previous observations in for example breast and colon cancer and indicate that the CYP2D6 locus on chromosome 22q13 is not involved in the pathogenesis of meningiomas.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00389501
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  • 6
    Digitale Medien
    Digitale Medien
    Arrangement of the rRNA sequences in the rDNA of Lytechinus variegatus (1978)
    Springer
    Chromosoma 65 (1978), S. 373-381 
    Details
    ISSN: 1432-0886
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract The arrangement of the 26S RNA and 18S RNA sequences of the ribosomal DNA (rDNA) from the sea urchin Lytechinus variegatus was investigated by an electron microscopic analysis of R-loops formed between the ribosomal RNA genes and the mature ribosomal RNAs. Ninety-eight percent of observed molecules contained R-loops clearly seen as a three-stranded complex. The size of DNA complementary to mature cytoplasmic 18S and 26S ribosomal RNA (rRNA) was calculated by measuring the double-strand (ds) and single-strand (ss) part of the R-loops separately. The values for the 18S R-loop are 1.75±0.24 kb1 (ss) and 1.56±0.23 kb (ds). The 26S R-loop is 3.34±0.39 kb (ss) and 3.33±0.33 kb (ds). These measurements agree fairly well with the rRNA sizes measured on denaturing sucrose density gradients: 3.23±0.22 kb for the 26S and 1.93±0.10 kb for 18S. The short spacer between the 18S and 26S R-loops is 1.03±0.24 kb and the longer spacer is 5.36±0.53 kb. In long molecules a repeating pattern was observed. The average length of an rDNA repeat unit is 11.33±0.64 kb when computed using double-strand R-loop measurements and 11.50±0.72 when computed using R-loop single-strand lengths.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00286416
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  • 7
    Digitale Medien
    Digitale Medien
    Deletion mapping by FISH with BACs in patients with partial monosomy 22q13 (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 557-561 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Patients with deletions in 22q13 are known to have phenotypic features that include normal or accelerated growth, large hands and feet, hypotonia, delayed psychomotor development and mild facial dysmorphism. To date, very few cases have been investigated by detailed molecular genetic analysis. We have analyzed three new patients with terminal deletions in 22q. We compared the cytogenetic observations with molecular data assessed by fluorescence in situ hybridization and an array of characterized bacterial artificial chromosome recombinants. The shortest region of deletion overlap is localized in 22q13.2–qter distal to the marker D22S94, but the telomeric repeat in the deleted chromosome appears to remain intact. When parental alleles were investigated in two of the three patients, the aberrant homolog was found to be of paternal origin in both cases. Although the deleted region still spans 〉20 cM, molecular analysis of additional patients and screening for new genes might help in elucidating candidate genes connected with the dysmorphisms defined by deletions of 22q13.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390050739
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  • 8
    Digitale Medien
    Digitale Medien
    The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 115-123 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract The SOX genes form a gene family related by homology to the high-mobility group (HMG) box region of the testis-determining gene SRY. We have cloned and sequenced the SOX10 and Sox10 genes from human and mouse, respectively. Both genes encode proteins of 466 amino acids with 98% sequence identity. Significant expression of the 2.9-kb human SOX10 mRNA is observed in fetal brain and in adult brain, heart, small intestine and colon. Strong expression of Sox10 occurs throughout the peripheral nervous system during mouse embryonic development. SOX10 shows an overall amino acid sequence identity of 59% to SOX9. Like SOX9, SOX10 has a potent transcription activation domain at its C-terminus and is therefore likely to function as a transcription factor. Whereas SOX9 maps to 17q, a SOX10 cosmid has previously been mapped by us to the region 22q13.1. Mutations in SOX10 have recently been identified as one cause of Waardenburg-Hirschsprung disease in humans, while a Sox10 mutation underlies the mouse mutant Dom, a murine Hirschsprung model.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390050793
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  • 9
    Digitale Medien
    Digitale Medien
    The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 247-250 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary The incidence of phenylketonuria (PKU) in the western part of Poland is 1 in 5000 live births. Restriction fragment length polymorphism (RFLP) haplotypes at the phenylalanine hydroxylase locus have been analysed in 46 Polish families with PKU. Among 43 fully-informative families 16 RFLP haplotypes were identified. Haplotype 2 is the most frequently (62%) associated with Polish PKU alleles, and the codon 408 mutation is in complete linkage disequilibrium with this haplotype in Poland. This finding is in agreement with observations in other eastern European countries (German Democratic Republic, Czechoslovakia, and Hungary) and in contrast to the genotype distribution observed in western European countries. The present observation suggests the spread of classical PKU, due to the codon 408 mutation associated with haplotype 2, from east to west in European populations. Perhaps more important for genetic counselling, 62% of all PKU chromosomes in the Polish population can now be detected using only one mutantspecific oligonucleotide probe.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00202402
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  • 10
    Digitale Medien
    Digitale Medien
    Regional localization and molecular characterization of a DNA sequence on the long arm of chromosome 22 (1989)
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 385-387 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary A human genomic DNA fragment, p22hom13 (D22S16), was isolated from a chromosome 22-specific library. After elimination of repetitive sequences, a single copy BamHI-EcoRI fragment was subcloned into pTZ18. By using mouse/human somatic cell hybrids and in situ hybridization, the new DNA probe was mapped to chromosome 22q13-qter. Its application in the analysis of the distal part of chromosome 22 and its diagnostic use in translocations are discussed.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00283698
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