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  • 1
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] We used the SEWA cell lines 4031Tc3 (DMs), StamA (HSR) and Rec4Tc2 (CMs) to screen for amplification of oncogenes (for a genealogy of SEWA cells see rf. 2). Preliminary tests, in which we hybridized a ^2P-labelled complementary DNA synthesized from poly( A)+ RNA to nitrocellulose filters containing ...
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: Key words Hereditary inclusion body myopathy ; Mitochondria ; Mitochondrial DNA deletions ; Cytochrome c oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have recently described an autosomal dominant hereditary inclusion body myopathy (h-IBM). Clinically it is is characterized by congenital joint contractures and slowly progressive, proximal muscle weakness and ophthalmoplegia. There is deterioration of muscle function between 30 and 50 years of age. While young patients show minor pathological changes in muscle, the middle-aged and old patients show rimmed vacuoles and inclusions of filaments measuring 15–18 nm in diameter. Except for the absence of significant inflammation the histopathology is similar to that found in sporadic inclusion body myositis (s-IBM). In s-IBM mitochondrial alterations including cytochrome c oxidase (COX) -deficient muscle fibers are common. These are due to multiple mitochondrial DNA (mtDNA) deletions. In this study we investigated the occurrence of mitochondrial alterations in autosomal dominant h-IBM. Young affected individuals showed no mitochondrial changes but three patients aged 38, 51 and 59 years, respectively, showed ragged red fibers and COX-deficient muscle fibers. Polymerase chain reaction analysis showed multiple mtDNA deletions. By in situ hybridization clonal expansions of mtDNA with deletions were demonstrated in COX-deficient muscle fibers. Most of the analyzed deletion breakpoints showed nucleotide repeats flanking the deletions. The results show that COX-deficient muscle fibers and somatic mtDNA deletions are present in this family with h-IBM. The same factors may be involved in the development of mtDNA deletions in s-IBM and this family with h-IBM.
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  • 3
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract SEWATC13 mouse cells, resistant to 0.1 μg/ml of actinomycin D (AMD), were fused to AMD-sensitive cells of the Chinese hamster ovary cell line (CHO). Twentytwo hybrid clones were isolated and put into serial culture in the selective medium. Unexpectedly, identifiable mouse chromosomes were found only in one of the hybrids. All the others had only hamster chromosomes and, in addition, numerous chromatin bodies (CBs), mostly small and irregularly shaped, but also larger, more chromosome-like ones. The CBs were distinctly C-band positive and a mouse satellite probe hybridized strongly to them. The AMD resistance of the murine parental cells had previously been attributed to gene amplification in two large homogeneously staining regions (HSR-AMD1 and 2). They were not observed in the hybrid cells but had supposedly reappeared in the guise of the CBs. It was established by Southern DNA blot analysis that amplified DNA sequences, localized to the HSRAMD1 and 2 of the SEWA parent were present in multiple copies in the hybrids. It was also established by in situ hybridization that they were located in the CBs. Unlike double minutes (DMs) the CBs were all centric.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 241 (1994), S. 385-390 
    ISSN: 1432-1459
    Keywords: Multiple sclerosis ; HLA antigens ; Prognosis ; Life-table analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The patients of a multiple sclerosis (MS) incidence cohort with 25 years of longitudinal follow-up were typed for HLA-DR and DQ. This type of cohort provides reliable data for gene frequencies and prognostic studies. The influence of sampling bias, mainly due to mortality during the long follow-up, was accounted for. A positive association between MS and DR15,DQ6 was confirmed, but this haplotype did not influence prognosis. There was no difference in haplotype frequency between relapsing-remitting and primary chronic progressive MS. DR17,DQ2 was significantly over-represented in the quartile with the most malignant course. The haplotype DR1,DQ5, which was found rather less frequently in MS patients, also tended to be associated with a poorer prognosis.
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  • 5
    ISSN: 1573-4986
    Keywords: FUT2 ; FUT3 ; Lewis blood group system ; nuclear magnetic resonance spectroscopy ; saliva ABH nonsecretor ; small intestine ; tandem mass spectrometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Abstract Total nonacid glycosphingolipids were isolated from small intestine mucosal scrapings of a red cell blood group O Le(a–b–) nonsecretor cadaver. Glycolipids were extracted and fractionated into five fractions based on chromatographic and immunostaining properties. These glycolipid fractions were then analysed by thin-layer chromatography for Lewis activity with antibodies reactive to the type 1 precursor (Lec), H type 1 (Led), Lea and Leb epitopes. Fractions were structurally characterized by mass spectrometry (EI-MS and EI-MS/MS-TOF) and proton NMR spectroscopy. EI-MS/MS-TOF allowed for the identification of trace substances in fractions containing several other glycolipid species. Consistent with the red cell phenotype, large amounts of lactotetraosylceramide (Lec-4) were detected. Inconsistent with the red cell phenotype, small quantities of Lea-5, H-5-1 and Leb-6 glycolipids were immunochemically and structurally identified in the small intestine of this individual. By EI-MS/MS-TOF several large glycolipids with 9 and 10 sugar residues were also identified. The extensive carbohydrate chain elongation seen in this individual with a Lewis negative nonsecretor phenotype supports the concept that Lewis and Secretor blood group fucosylation may be a mechanism to control type 1 glycoconjugate chain extension. Abbreviations: FUT1, H gene; FUT2, Secretor gene, (gene bank accession no. U17894); FUT3, Lewis gene or Fuc-TIII gene, (gene bank accession no. X53578); FUT5, Fuc-TV gene; [Imm]+, immonium ion; Lea-5, Galβ1-3(Fucα1-4)GlcNAcβ1-3Galβ1-4Glcβ1-1Cer; Leb-6, Fucα1-2Galβ1-3(Fucα1-4)GlcNAcβ1-3Galβ1-4Glcβ1-1Cer; Lec-4, Galβ1-3GlcNAcβ1-3Galβ1-4Glcβ1-1Cer; Led or H-5-1, Fucα1-2Galβ1-3GlcNAcβ1-3Galβ1-4Glcβ1-1Cer; Lex-5, Galβ1-4(Fucα1-3)GlcNAcβ1-3Galβ1-4Glcβ1-1Cer; MAb, monoclonal antibody; MS, mass spectrometry; CID, collision-induced dissociation; EI, electron impact ionisation; MS/MS-TOF, tandem mass spectrometry using a time-of-flight mass spectrometer as the second mass spectrometer: m/Cz, mass-to-charge ratio; NMR, nuclear magnetic resonance; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; TLC, (high performance) thin layer chromatography. Saccharide types are abbreviated to Hex for hexose, HexNAc for N-acetylhexosamine and dHex for deoxyhexose (fucose). Ceramide is abbreviated to Cer, and ceramide types are abbreviated to d for dihydroxy and t for trihydroxy base, n for non-hydroxy and h for hydroxy fatty acids
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