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  • c-erbAβ  (1)
  • polymorphism  (1)
  • Springer  (2)
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  • Springer  (2)
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  • 1
    Electronic Resource
    Electronic Resource
    An improved method for genotyping ofN-acetyltransferase polymorphism by polymerase chain reaction (1993)
    Springer
    Journal of human genetics 38 (1993), S. 163-168 
    Details
    ISSN: 1435-232X
    Keywords: genotype ; N-acetyltransferase ; polymorphism ; polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary PolymorphicN-acetyltransferase in human liver catalyzesN-acetylation of various arylamine-containing drugs and environmental chemicals. To accelerate the pharmacogenetic and ecogenetic studies ofN-acetyltransferase polymorphism, we have developed a rapid and simple method for genotyping using a polymerase chain reaction based restriction fragment length polymorphism. This method distinguishes four kinds of allele of theN-acetyltransferase gene using a single polymerase chain reaction starting with a set of primers, followed by successiveAsp718,BamHI andTaqI digestions, and then running the samples on a single electrophoresis lane. This method allows us to determine ten different genotypes easily and reliably.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01883706
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Generalized resistance to thyroid hormone: Identification of a novel c-erbAβ thyroid hormone receptor variant (leu450) in a Japanese family and analysis of its secondary structure by the Chou and Fasman method (1994)
    Springer
    Journal of human genetics 39 (1994), S. 365-377 
    Details
    ISSN: 1435-232X
    Keywords: generalized ; resistance to thyroid hormone ; thyroid hormone receptor ; c-erbAβ ; gene analysis ; Chou and Fasman analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Generalized resistance to thyroid hormone (GRTH) is characterized by elevated circulating levels of thyroid hormone in the presence of a eumetabolic state and failure to respond to triiodothyronine. Various point mutations in the c-erbAβ thyroid hormone receptor gene are known to be responsible for different phenotypes of GRTH. We herein report a new c-erbAβ variant in a Japanese family. The variant consisting of a cytosine to adenine base substitution at nucleotide position 1650 altered phenylalanine to leucine in codon 450 in the T3-binding domain of c-erbAβ. This base substitution was found in one allele of the 2 affected members of the family. Thein vitro translation products of this mutant c-erbAβ gene demonstrated a significantly reduced T3-binding affinity. The secondary structure of this mutant thyroid hormone receptor predicted by the Chou and Fasman method included a new turn in the α helix structure in the T3-binding domain. We also discuss the secondary structures of the previously reported mutant receptors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01892382
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