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  • Articles  (2)
  • Anionic dye  (1)
  • Key words Acute intermittent porphyria (AIP)  (1)
  • Springer  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Effects of affinity and aggregation on parallel diffusion of tri-sulfonated azo compounds into water-swollen cellulose membranes (1996)
    Springer
    Colloid & polymer science 274 (1996), S. 1145-1151 
    Details
    ISSN: 1435-1536
    Keywords: Anionic dye ; aggregation ; affinity ; cellulose membrane ; parallel transport theory
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: Abstract Adsorption and diffusion of tri-sulfonated azo dyes, C.I. Acid Red 18 and C.I. Acid Red 27 onto waterswollen cellulose membrane has been studied at 25°C. Affinities of these dyes onto cellulose were evaluated by the coefficients of Freundlich equation. Diffusion behavior of these days was analyzed on the basis of a parallel transport theory by surface and pore diffusion. The results could be described by the parallel diffusion model provided that adsorption was stimulated by addition of NaCl. The surface diffusivities for the parallel diffusion model were correlated by the affinity of the dyes, on the other hand, the pore diffusivities for the model were affected by aggregation of the dye depending on its structure and NaCl concentration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00655685
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  • 2
    Electronic Resource
    Electronic Resource
    Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria (2000)
    Springer
    Journal of human genetics 45 (2000), S. 263-268 
    Details
    ISSN: 1435-232X
    Keywords: Key words Acute intermittent porphyria (AIP) ; Gene analysis ; Hydroxymethylbilane synthase (HMBS) ; Molecular pathology ; Mutations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we investigated the presence of mutations in two unrelated Japanese patients with AIP. Mutational analysis was performed using the polymerase chain reaction-single strand conformation polymorphism (SSCP) method, followed by DNA sequencing. Reliable restriction enzyme cleavage assays were also established for the pedigree analyses. Unique SSCP patterns were noted in exons 12 and 15 of the HMBS gene. Sequencing revealed different mutations in each patient: a two-base deletion of CT at nucleotide 730–731 (730delCT), and also a two-base deletion of CA at position 982–983 (982delCA). Both of the deletion mutations lead to truncated proteins with an abnormal C-terminus, which would be expected to decrease the stability and/or activity of HMBS. Using the cleavage assays, we were able to definitively identify gene carriers in the family. This study adds a novel mutation to those that have been previously reported, and emphasizes that molecular analysis would be very useful not only for the identification of asymptomatic gene carriers in the family but also for the detection of ancestral founders in porphyria families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070038
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