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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
    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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  • 4
    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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  • 5
    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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  • 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 88 (1982), S. 203-211 
    ISSN: 1437-1596
    Keywords: Blood groups, α1-antitrypsin ; PiM subtypes ; Paternity examinations ; Blutgruppen, α1-Antitrypsin ; PiM-Untergruppen ; Vaterschaftsuntersuchung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Die Untergruppen des Protease-Inhibitors (Pi) α1-Antitrypsin wurden im Serum von 752 nichtverwandten Personen aus Süddeutschland bestimmt. Mit Hilfe der isoelektrischen Fokussierung ließen sich dabei neun häufige PiM-Untergruppen neben mehreren seltenen Pi-Varianten unterscheiden. Die Existenz eines vierten PiM-Subtypenallels wurde durch Familienuntersuchungen bewiesen. In unserer Stichprobe errechnete sich für PiM4 eine Allelfrequenz von 0.018. Die übrigen Allelfrequenzen wurden mit den Untersuchungsergebnissen anderer Autoren verglichen. Die Anwendung der Pi-Untergruppenbestimmung in der Vaterschaftsuntersuchung wird besprochen.
    Notes: Summary Subtypes of the protease inhibitor (Pi) α1-antitrypsin were determined in sera from 752 unrelated individuals from Southern Germany. By isoelectric focusing nine common PiM subtypes were distinguished and several rare Pi variants were observed. Family studies confirm the existence of a fourth PiM suballele. The frequency of PiM4 was found to be 0.018. A survey of the distribution of Pi alleles is given; the application of Pi subtyping in cases of disputed paternity is discussed.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 94 (1985), S. 165-171 
    ISSN: 1437-1596
    Keywords: Plasminogen (PLG), Genetic polymorphism ; Paternity testing ; Plasminogen (PLG), Genetischer Polymorphismus ; Vaterschaftsuntersuchung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Der genetisch determinierte Polymorphismus des Plasminogens (PLG) wurde mit der isoelektrischen Fokussierung auf Polyacrylamidgelen untersucht. Für die Untersuchungen wurden Neuraminidase behandelte Serumproben verwendet. Der PLG-Nachweis erfolgte funktionell durch Urokinaseaktivierung und darauffolgender Lyse von Casein im Agar-Overlay. Bei einer Stichprobe von 957 nichtverwandten, gesunden Personen aus dem süddeutschen Raum wurden drei häufige Phänotypen PLG1, 2-1 und 2 sowie fünf seltene Varianten gefunden. Folgende Allelfrequenzen wurden ermittelt: PLG*1=0,7174, PLG*2=0,2780 und PLG*Var=0,0046. Aufgrund unserer Untersuchungsergebnisse errechnet sich für das PLG-System eine theoretische Ausschlußchance von 16,5%.
    Notes: Summary The genetically determined polymorphism of plasminogen (PLG) was analyzed by isoelectric focusing on polyacrylamide gels. For analysis neuraminidase-pretreated sera were used. PLG was developed functionally by activation with urokinase and subsequent lysis of casein in an agar overlay. In a random sample of 957 unrelated healthy individuals from Southern Germany, three common phenotypes, PLG1, 2-1, and 2, and five rare variants were found. The allele frequencies were: PLG*1=0.7174, PLG*2=0.2780, and PLG*Var=0.0046. The theoretical exclusion rate in cases of disputed paternity is 16.5%.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 284-286 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Polyacrylamide gel isoelectric focusing (PAGIF) with carrier ampholytes was used for the determination of Tf phenotypes in a sample of 965 unrelated healthy blood donors from Tuscany (Italy). Thirteen rare variants in a heterozygote state were found (four Tf D, seven Tf B, and two rare Tf C subtypes). Among them two apparently new variants, tentatively called Tf C15 and Tf B4, were identified. The rare Tf B0 mutant was also observed.
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 71 (1985), S. 27-29 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The phenotypes of the protease inhibitor (PI) alpha-1-antitrypsin have been analyzed by isoelectric focusing on polyacrylamide gels. With improved resolution by a modified procedure it was possible to demonstrate a fifth PI*M suballele. The bands of PI M5 are located between PI M1 and PI M3. In addition, a further deficiency allele similar to PI*Z was found in a female patient with obstructive pulmonary disease. This variant was provisionally named PI Zaugsburg (PI Zaug). Family data confirm a simple codominant mode of inheritance for PI Zaug.
    Type of Medium: Electronic Resource
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