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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004843naa a2200529 4500
001oai:DiVA.org:liu-90743
003SwePub
008130405s2013 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-907432 URI
0247 a https://doi.org/10.1097/FPC.0b013e32835f1cc02 DOI
040 a (SwePub)liu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a for2 swepub-publicationtype
1001 a Lindqvist Appell, Malinu Linköpings universitet,Klinisk farmakologi,Hälsouniversitetet4 aut0 (Swepub:liu)malli06
2451 0a Nomenclature for alleles of the thiopurine methyltransferase gene
264 1b Lippincott, Williams and Wilkins,c 2013
338 a print2 rdacarrier
500 a Funding Agencies|Swedish Childrens Cancer Foundation||Swedish Cancer Society||NHMRC||Gutsy Group||NIH|R37 CA 36401U01 GM 92666U01 HL 105918P30 CA 21765UL1 RR025747P01CA142538GM 92666HL 105918U19 GM61388RO1 GM28157RO1 CA132780R24 GM61374|ALSAC||Jim and Mary Carney Charitable Trust, Whangarei, New Zealand||Leukaemia and Lymphoma Research, London, UK||Guys and St Thomas Charity||Robert Bosch Foundation, Stuttgart||Deutsche Forschungsgemeinschaft, Germany|SFB685|Childrens Cancer Foundation, Singapore||Newcastle Healthcare Charity||Newcastle upon Tyne Hospitals NHS Charity||
520 a The drug-metabolizing enzyme thiopurine methyltransferase (TPMT) has become one of the best examples of pharmacogenomics to be translated into routine clinical practice. TPMT metabolizes the thiopurines 6-mercaptopurine, 6-thioguanine, and azathioprine, drugs that are widely used for treatment of acute leukemias, inflammatory bowel diseases, and other disorders of immune regulation. Since the discovery of genetic polymorphisms in the TPMT gene, many sequence variants that cause a decreased enzyme activity have been identified and characterized. Increasingly, to optimize dose, pretreatment determination of TPMT status before commencing thiopurine therapy is now routine in many countries. Novel TPMT sequence variants are currently numbered sequentially using PubMed as a source of information; however, this has caused some problems as exemplified by two instances in which authors articles appeared on PubMed at the same time, resulting in the same allele numbers given to different polymorphisms. Hence, there is an urgent need to establish an order and consensus to the numbering of known and novel TPMT sequence variants. To address this problem, a TPMT nomenclature committee was formed in 2010, to define the nomenclature and numbering of novel variants for the TPMT gene. A website (http://www.imh.liu.se/tpmtalleles) serves as a platform for this work. Researchers are encouraged to submit novel TPMT alleles to the committee for designation and reservation of unique allele numbers. The committee has decided to renumber two alleles: nucleotide position 106 (Gandgt;A) from TPMT*24 to TPMT*30 and position 611 (Tandgt;C, rs79901429) from TPMT*28 to TPMT*31. Nomenclature for all other known alleles remains unchanged. Pharmacogenetics and Genomics 23: 242-248
653 a allele
653 a nomenclature
653 a pharmacogenetics
653 a thiopurine methyltransferase
653 a MEDICINE
653 a MEDICIN
7001 a Berg, Jonathanu City Hospital, England4 aut
7001 a Duley, Johnu University of Queensland, Australia4 aut
7001 a Evans, William E.u St Jude Childrens Research Hospital, TN USA4 aut
7001 a Kennedy, Martin A:u University of Otago, New Zealand4 aut
7001 a Lennard, Lynneu University of Sheffield, England4 aut
7001 a Marinaki, Tonyu Guys and St Thomas Hospital, England4 aut
7001 a McLeod, Howard L.u University of N Carolina, NC USA4 aut
7001 a Relling, Mary V.u St Jude Childrens Research Hospital, TN USA4 aut
7001 a Schaeffeler, Elkeu Dr Margarete Fischer Bosch Institute Clin Pharmacol, Germany4 aut
7001 a Schwab, Matthiasu Dr Margarete Fischer Bosch Institute Clin Pharmacol, Germany4 aut
7001 a Weinshilboum, Richardu Mayo Clin, MN USA4 aut
7001 a Yeoh, Allen E Ju National University of Singapore, Singapore4 aut
7001 a McDonagh, Ellen M.u Stanford University, CA USA4 aut
7001 a Hebert, Joan M.u Stanford University, CA USA4 aut
7001 a Klein, Teri E.u Stanford University, CA USA4 aut
7001 a Coulthard, Sally A.u Newcastle University, England4 aut
7102 a Linköpings universitetb Klinisk farmakologi4 org
7730 t Pharmacogenetics & Genomicsd : Lippincott, Williams and Wilkinsg 23:4, s. 242-248q 23:4<242-248x 1744-6872x 1744-6880
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-90743
8564 8u https://doi.org/10.1097/FPC.0b013e32835f1cc0

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