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  • 1
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Influences of microbial pathogens are crucial for the maturation of the immune system. Caspase-recruitment domain containing protein 15 (CARD15) is a cytosolic receptor involved in bacterial recognition by antigen-presenting cells. CARD15 polymorphisms have been associated with Crohn's disease. Recently, associations with atopic phenotypes have been reported in children.Objective Within a large population of German adults (n=1875), we evaluated eight CARD15 polymorphisms for associations with atopic phenotypes.Methods Subjects were phenotyped by standardized questionnaires and interviews as well as total and allergen-specific IgE measurements. Genotyping was performed using matrix-assisted laser desorption ionization – time of flight mass spectrometry. Haplotypes were estimated using the SAS/Genetics module.Results Subjects with a T allele at rs1077861 had a decreased risk of developing asthma (odds ratio OR=0.648, P=0.013), whereas the presence of an A allele at rs3135500 was significantly associated with an increased risk (OR=1.374, P=0.023). In addition, a CARD15 haplotype revealed to be protective against the development of asthma (OR=0.326, P=0.003). Subjects with an A allele at position rs5743266 or a T allele at rs2066842 had a significantly decreased risk of developing allergic rhinoconjunctivitis with ORs of 0.820 (P=0.049) and 0.801 (P=0.025). Polymorphism rs2066845 showed a significant association with increased total serum IgE (OR=2.155, P=0.006).Conclusion Genetic variants of CARD15 that might result in inappropriate immunomodulation are not only associated with autoimmune diseases but also with atopic disorders.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1398-9995
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background:  Atopic disorders are the result of complex interactions between genetic and environmental factors. Associations analyses between the promoter polymorphism rs1800875 in the mast cell chymase gene (CMA1) and atopy-related phenotypes have yielded inconsistent results.Methods:  We sequenced the CMA1 locus in 24 unrelated healthy individuals with serum IgE levels 〈50% percentile and 24 individuals with atopic eczema and serum IgE levels 〉90% percentile. Seven CMA1 single nucleotide polymorphisms (SNPs) were evaluated for evidence of associations with atopic phenotypes within a large population of German adults (n = 1875). Subjects were phenotyped by standardized questionnaires and interviews, skin prick testing and serum IgE measurements. Genotyping was performed using MALDI-TOF MS (Matrix-Assisted Laser Desorption Ionization–Time of Flight mass spectrometry).Results:  Promoter polymorphism rs1800875 was significantly associated with atopic eczema. No associations between any other single SNP and atopic phenotypes could be detected. Haplotype reconstruction revealed four of 128 possible haplotypes reaching estimated frequencies of 3% or more. Two of these haplotypes showed a borderline-significant association with atopic eczema, which did not remain significant after correction for multiple testing.Conclusions:  Results confirm previous observations of a significant association between the CMA1 promoter polymorphism rs1800875 and atopic eczema, but not with serum IgE levels, and support the hypothesis that CMA1 serves as candidate gene for atopic eczema.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Colonization of human skin by Staphylococcus aureus is a characteristic feature of several inflammatory skin diseases, which is often followed by tissue invasion and severe cell damage. A crucial role has been attributed to staphylococcal haemolysins in the cytotoxicity to epidermal structures. Objectives To investigate haemolysin-independent virulence to human keratinocytes. Methods The stable α-haemolysin, β-haemolysin double-negative S. aureus mutant DU 5720 was compared with the fully virulent parent strain 8325-4 and with its isogenic fibronectin-binding protein A/B-negative variant DU 5883 in an invasion model. Results This assay showed dose-dependent internalization of all the strains investigated by human HaCaT keratinocytes, with reduced internalization of DU 5883. Transmission electron microscopy revealed adhesion of staphylococci to cellular pilus-like extrusions, followed by the embedding of the bacteria in cellular grooves. Following attachment to the keratinocytes the staphylococci were engulfed into vesicles within the cytoplasm where some bacteria persisted for 24–48 h. Addition of cytochalasin D strongly reduced the bacterial uptake, suggesting an active keratinocyte process. Bacterial invasion was followed by severe keratinocyte cell damage showing the morphological changes of cytotoxic and, to a lesser extent, apoptotic cell death as determined by the trypan blue exclusion test and the terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end labelling assay. The highest levels of lethal cytotoxicity were observed in haemolysin-producing strains, whereas the induction of apoptosis seemed to depend on internalization. Conclusions Staphylococcal invasion of human keratinocytes represents a potent staphylococcal virulence factor, which, independently of α- and β-haemolysins, leads to necrotic and apoptotic cell damage.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 0009-8981
    Keywords: Agarose gel isoelectrofocusing ; Galactosemia ; UDP-gal pyrophosphorylase ; Uridyltransferase
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 85 (1980), S. 255-261 
    ISSN: 1437-1596
    Keywords: Serum groups ; transferrin subtypes ; Transferrin subtypes ; Serumgruppen, Transferrin-Untergruppen ; Transferrin-Untergruppen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Mit Hilfe der isoelektrischen Fokussierung in Polyacrylamidgelen (PAGIF) wurden 450 Proben von nicht verwandten Personen aus Süddeutschland untersucht. Es wurden drei häufige Untergruppen Tf C1, C2-1 und C2 differenziert, sowie die seltenen Varianten TfB1, B1-2, B2, D1, D1-2, D2 und D3 beobachtet. Die Allelfrequenzen in dieser Stichprobe betrugen: TfC1=0,8544, TfC2=0,1367, TfB1=0,0011, TfB1-2=0,0022, TfB2=0,0045, and TfD1=0,0011. Die Untersuchung von 73 Elternpaaren mit ihren Kindern ergab keine Abweichung vom angenommenen autosomal kodominanten Erbgang. Modifizierung der Methode durch Zusatz von 0,01 M FeCl3 zu den Seren vor der Auftrennung ließ weitere Variation erkennbar werden und erlaubte sechs häufige Untergruppen zu differenzieren, nämlich C1, C2-1, C2, C3, C3-1 und C3-2.
    Notes: Summary A sample of 450 sera from unrelated individuals from Southern Germany was examined by isoelectric focusing on polyacrylamide gels. Three common subtypes, TfC1, C2-1, and C2, were differentiated. In addition, the rare variants TfB1, B1-2, B2, D1, D1-2, D2, and D3 were observed. The frequencies of the Tf alleles in our sample were found to be: TfC1=0.8544, TfC2=0.1367, TfB1=0.0011, TfB1-2=0.0022, TfB2=0.0045, and TfD1=0.0011. Analysis of 73 parents with 73 children did not show deviations from the expected mode of inheritance. Modification of the method by addition of 0.01 M FeCl3 to the sera prior to examination did, however, reveal further variation and permitted the distinction of six subtypes, C1, C2-1, C2, C3, C3-1, and C3-2.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 96 (1986), S. 159-161 
    ISSN: 1437-1596
    Keywords: ADA, rare variant phenotypes ; ADA*9 ; ADA, seltene Phänotypen ; ADA*9
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Bei einem Mutter-Kind-Paar aus Deutschland fanden wir zwei seltene ADA-Phänotypen. Wir können die Möglichkeit nicht ausschließen, daß es sich bei dieser Variante um die gleiche handelt, die in Bulgarien gefunden und dem Allel ADA*9 zugeordnet wurde. Eine vergleichende Untersuchung war nicht möglich.
    Notes: Summary Two rare ADA phenotypes were observed in a German mother and her child. These phenotypes may be due to the allele ADA*9 previously found in Bulgaria.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 83 (1979), S. 259-264 
    ISSN: 1437-1596
    Keywords: Serum groups ; properdin factor B ; Bf-polymorphism ; Bf0-allele ; Serumgruppen ; Properdin Faktor B ; Bf-Polymorphismus ; Bf0-Allel
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Unter Verwendung der Agarosegel-Hochspannungselektrophorese mit darauffolgender Immunofixation wurde der Polymorphismus des Properdin-Faktors B (Bf, C3-Proaktivator, GBG = Glyzin-reiches β- Glykoprotein) bei 1115 nicht verwandten Personen aus Süddeutschland untersucht. Sieben Phänotypen wurden beobachtet und folgende Allel- frequenzen berechnet: BfS = 0,8094, BfF = 0,1790, BfS1 = 0,0094 und BfF1 = 0,0022. Die Untersuchung von 94 Elternpaaren mit 98 Kindern und 420 Mutter-Kind-Verbindungen erbrachte keine Abweichungen vom angenommenen autosomal kodominanten Erbgang des Bf-Merkmals. In einer weiteren Familie ergab sich ein Hinweis für die Existenz eines stummen Allels auf dem Bf-Locus.
    Notes: Summary The polymorphism of the properdin factor B (Bf, C3-proactivator, GBG = glycin-rich-β-glycoprotein) has been investigated by high voltage agarose gel immunofixation electrophoresis in 1115 unrelated persons from Southern Germany. Seven phenotypes were observed; the allele frequencies were calculated as Bfs = 0.8094, BfF = 0.1790, BfS1 = 0.0094, BfF1 = 0.0022. A study of 94 parents with 98 children and 420 mother-child combinations showed no deviation from the assumed autosomal codominant mode of inheritance. In one additional family the findings suggested the existence of a silent allele at the Bf-locus.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 84 (1980), S. 221-224 
    ISSN: 1437-1596
    Keywords: Blood groups, PGM1-polymorphism ; Phosphoglucomutase I, subtypes ; Blutgruppen, PGM1-Polymorphismus ; Phosphoglucomutase I, Untergruppen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Der PGM1-Polymorphismus wurde mit Hilfe der Isoelektrofokussierung auf Agarose-Gel-Platten untersucht. Mit dieser modifizierten Methode lassen sich die PGMI-Untergruppen an Hämolysaten ohne Schwierigkeiten klassifizieren. Neun der erwarteten zehn Phänotypen wurden in einer Stichprobe von. 470 nichtverwandten Personen aus Süddeutschland beobachtet. Folgende Allelhäufigkeiten wurden ermittelt: PGM 1 1+ = 0,6212, PGM 1 1- = 0,1224, PGM 1 2+ = 0,2043, PGM 1 2- = 0,0521.
    Notes: Summary PGM1 subtypes were determined in red cell hemolysates by isoelectric focusing on agarose gel plates. By this modified procedure PGM1 subtypes may be readily classified. Nine of the 10 expected phenotypes were found in a sample of 470 unrelated individuals from Southern Germany. The frequencies for the four alleles were found to be: PGM 1 1+ = 0.6212, PGM 1 1- = 0.1224, PGM 1 2+ = 0.2043, PGM 1 2- = 0.0521.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 86 (1980), S. 1-7 
    ISSN: 1437-1596
    Keywords: Serum groups, a 1-antitrypsin ; Pi-subtypes, isoelectric focusing ; Paternity examinations, Pi-subtypes ; Pi-Untergruppen, Isoelektrofokussierung ; Vaterschaftsbegutachtung, Pi-Untergruppen ; Blutgruppen, a 1-Antitrypsin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Die genetischen Variationen des Protease-Inhibitors (Pi) a 1-Antitrypsin wurden mit Hilfe der Isoelektrofokussierung in einer Stichprobe von 347 nicht verwandten Personen aus Süddeutschland untersucht. Es wurden sechs häufige PiM-Untergruppen und die relativ häufigen Varianten PiS und PiZ differenziert; zudem fanden sich die seltenen Varianten PiT, Pi〈L, PiL, PiI, PiF sowie eine als PiZl bezeichnete Variante. In dieser Stichprobe wurden folgende Allelfrequenzen berechnet: PiM1=0.6917, PiM2=0,1686, PiM3=0,0865, PiS=0,0230, PiZ=0,0187 und Pi*=0,0115. In 82 Familien fand sich keine Abweichung vom angenommenen autosomal kodominanten Vererbungsmodus. Die Verwendbarkeit des Pi-Systems für die Paternitätsbegutachtung wird diskutiert.
    Notes: Summary Genetic variation of the protease inhibitor (Pi) a 1-antitrypsin was analyzed by isoelectric focusing on polyacrylamide gels in a sample of 347 unrelated individuals from Southern Germany. Six common subtypes of PiM were observed as well as the relatively frequent variants PiS and PiZ and the rare variants PiT, Pi〈L, PiL, PiI and PiF. Also, a variant called PiZl was found. The frequency of alleles in this sample was PiM1=0.6917, PiM2=0.1686, PiM3=0.0865, PiS=0.0230, PiZ=0.0187, and Pi*=0.0115. In 82 families the distribution of Pi types was in agreement with an autosomal codominant mode of inheritance. The application of Pi classification in cases of disputed paternity is discussed.
    Type of Medium: Electronic Resource
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