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James L. Kennedy - One of the best experts on this subject based on the ideXlab platform.

Panagiotis Karanis - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Polymorphism in cryptosporidium species an update
    Veterinary Parasitology, 2009
    Co-Authors: Judit Plutzer, Panagiotis Karanis
    Abstract:

    Cryptosporidia, widely distributed protozoan parasites of vertebrates, have attracted increasing interest due to several serious waterborne outbreaks, the life-threatening nature of infection in immunocompromised patients, and the realization of economic losses caused by these pathogens in livestock. Genetic Polymorphism within Cryptosporidium species is being detected at a continuously growing rate, owing to the widespread use of modern molecular techniques. The aim of this paper is to review the current status of taxonomy, genotyping and molecular phylogeny of Cryptosporidium species. To this date, 20 Cryptosporidium species have been recognized. Two named species of Cryptosporidium have been found in fish, 1 in amphibians, 2 in reptiles, 3 in birds, and 12 in mammals. Nearly 61 Cryptosporidium genotypes with uncertain species status have been found based on SSUrRNA sequences. The gp-60 gene showed a high degree of sequence Polymorphism among isolates of Cryptosporidium species and several subtype groups and subgenotypes have been identified, of which the Cryptosporidium parvum IIa and IId subtype groups were found to be zoonotic. This review describes considerable progress in the identification, Genetic characterization, and strain differentiation of Cryptosporidium over the last 20 years. All the valid species, genotypes and zoonotic subtypes of Cryptosporidium reported in the international literature are included in this paper with respect to the taxonomy, epidemiology, transmission and morphologic-Genetic information for each species.

Jungwook Shin - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Polymorphism of CYP2C9 in a Vietnamese population
    Clinical Pharmacology & Therapeutics, 2004
    Co-Authors: Yu Eun Sunwoo, Yune-jung Yoon, Jungwook Shin
    Abstract:

    CYP2C9 is the major cytochrome P450 2C enzyme in human liver and contributes to the metabolism of a number of drugs. This enzyme shows Genetic Polymorphism with high inter-ethnic variations, but no report has been addressed to the Genetic Polymorphism in Vietnamese population. Among 12 known allelic variations, CYP2C9*2 (Arg144Cys) and CYP2C9*3(Ile359Leu) genotypes have been most characterized due to its clinical relevance to cause enzymatic defects. Genetic Polymorphism of these two alleles was determined in 157 Vietnamese subjects by PCR-RFLP method and compared with those of other ethnics. CYP2C9*2 allele was not detected in Vietnamese, which was consistent with the previous results suggesting no occurrence of CYP2C9*2 allele in East Asians including Korean, Japanese, and Chinese. This frequency is highly different from those of Caucasians (10–13%) and American (8%). Out of 157 Vietnamese subjects, 7 subjects were heterozygous for CYP2C9*3 allele, which gave allelic frequency of 2.23%. In the context of the allelic frequency of CYP2C9*3, Vietnamese is not different from African-American (0.5%) and East Asians including Korean (1.1%), Japanese (2.1%) and Chinese (1.7–2.6%), but significantly different from American (6%) and Caucasians (8–10%) (Chi-square test, p

William E Evans - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia
    Clinical Pharmacology & Therapeutics, 2009
    Co-Authors: Mary V Relling, Gabriele Stocco, Meyling Cheok, Kristine R Crews, Thierry Dervieux, Deborah L French, Wenjian Yang, C Cheng, William E Evans
    Abstract:

    The influence of Genetic Polymorphism in inosine triphosphate pyrophosphatase (ITPA) on thiopurine-induced adverse events has not been investigated in the context of combination chemotherapy for acute lymphoblastic leukemia (ALL). This study investigated the effects of a common ITPA variant allele (rs41320251) on mercaptopurine metabolism and toxicity during treatment of children with ALL. Significantly higher concentrations of methyl mercaptopurine nucleotides were found in patients with the nonfunctional ITPA allele. Moreover, there was a significantly higher probability of severe febrile neutropenia in patients with a variant ITPA allele among patients whose dose of mercaptopurine had been adjusted for TPMT genotype. In a cohort of patients whose mercaptopurine dose was not adjusted for TPMT phenotype, the TPMT genotype had a greater effect than the ITPA genotype. In conclusion, Genetic Polymorphism of ITPA is a significant determinant of mercaptopurine metabolism and of severe febrile neutropenia, after combination chemotherapy for ALL in which mercaptopurine doses are individualized on the basis of TPMT genotype.

  • Genetic Polymorphism of thiopurine s methyltransferase clinical importance and molecular mechanisms
    Pharmacogenetics, 1996
    Co-Authors: Eugene Y Krynetski, Thrina Loennechen, John D Schuetz, Charles R Yates, Michael Y Fessing, Mary V Relling, William E Evans
    Abstract:

    Thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurines such as mercaptopurine and thioguanine. TPMT activity exhibits Genetic Polymorphism, with about 1 in 300 inheriting TPMT-deficiency as an autosomal recessive trait. If treated with standard dosages of thiopurines, TPMT-

Claudia Rothe - One of the best experts on this subject based on the ideXlab platform.