Results 11 to 20 of about 5,467 (204)

Clinical Functional Assignment of TPMT and NUDT15 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel. [PDF]

Clin Pharmacol Ther
The Clinical Pharmacogenetics Implementation Consortium (CPIC) TPMT/NUDT15 Pharmacogene Curation Expert Panel (PCEP) conducted a comprehensive review of clinical, laboratory, and computational evidence to determine the clinical function assignments for TPMT and NUDT15 star alleles.
Tibben BM, Maillard M, Pratt VM, Moyer AM, Figueroa DM, Whirl-Carrillo M, Gaedigk A, Stocco G, Schwab M, Caudle KE, Yang JJ.   +10 more
europepmc   +2 more sources

One amino acid makes a difference–Characterization of a new TPMT allele and the influence of SAM on TPMT stability [PDF]

Scientific Reports, 2017
AbstractThiopurine induced toxicity is associated with defects in the thiopurine methyltransferase (TPMT) gene. TPMT is a polymorphic enzyme, with most of the single nucleotide polymorphisms (SNPs) causing an amino acid change, altering the enzymatic activity of the TPMT protein.
Ping Heidi Iu, Yan, Helander, Sara, Zimdahl Kahlin, Anna, Wah Cheng, Chun, Chung Shek, Chi, Ho Leung, Moon, Wallner, Björn, Mårtensson, Lars-Göran, Lindqvist Appell, Malin   +8 more
openaire   +4 more sources

Reactive sulfur species are inactivated and excreted as trimethylsulfonium ion by thiopurine S-methyltransferase [PDF]

Redox Biology
Reactive sulfur species (RSS) play essential roles in cellular signaling, redox regulation, and defense against electrophilic stress. However, excessive RSS are cytotoxic and must be strictly regulated.
Yasunori Fukumoto, Momoka Uchida, Yoshikazu Yamagishi, Natsu Saito, Ayune Watanabe, Rina Mukasa, Ryosuke Kobayashi, Takuro Horii, Izuho Hatada, Yu-ki Tanaka, Noriyuki Suzuki, Yasumitsu Ogra   +11 more
doaj   +2 more sources

Thiopurine Methyltransferase Levels and Azathioprine Outcomes in Thai Patients with Cutaneous Autoimmune Diseases [PDF]

Clinical, Cosmetic and Investigational Dermatology
Purit Pureesrisak,1,2 Oraya Kwangsukstid,1 Pinnaree Kattipathanapong,1 Tanawatt Kootiratrakarn,1 Chonlaphat Sukasem,3 Dumrong Mairiang,4,5 Wenika Channakorn,1 Daraka Phainupong,1 Mingkwan Suphannaphong1 1Institute of Dermatology, Bangkok, Thailand ...
Pureesrisak P, Kwangsukstid O, Kattipathanapong P, Kootiratrakarn T, Sukasem C, Mairiang D, Channakorn W, Phainupong D, Suphannaphong M   +8 more
doaj   +2 more sources

Challenges in Diagnosis and Management of Crohn's Disease in Bangladesh With Long Term Follow-Up. [PDF]

Clin Case Rep
Flow chart of patient journey from initial presentation (2021) till current clinical management (2025). ABSTRACT Crohn's disease (CD) is a chronic autoimmune inflammatory bowel disease (IBD) with significant diagnostic and therapeutic challenges. We reported a case of a 20‐year‐old Bangladeshi male with an 8‐month history of severe upper abdominal pain,
Abdullah I, Hasan I, Rahman M, Hayat S, Papri N, Fatema N, Kabir A, Islam Z.   +7 more
europepmc   +2 more sources

Common Polymorphism’s Analysis of Thiopurine S-Methyltransferase (TPMT) in Iranian Population [PDF]

Cell Journal, 2009
Objective: Thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurinedrugs. Low activity phenotypes are correlated with several mutations in the TPMTgene and adverse drug reactions.
Mehdi Azad, Saeid Kaviani, Masoud Soleimani, Mehrdad Noruzinia, Abbas Hajfathali   +4 more
doaj   +1 more source

Polymorphic Variation in TPMT Is the Principal Determinant of TPMT Phenotype: A Meta‐Analysis of Three Genome‐Wide Association Studies [PDF]

Clinical Pharmacology & Therapeutics, 2017
Thiopurine‐related hematotoxicity in pediatric acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases has been linked to genetically defined variability in thiopurine S‐methyltransferase (TPMT) activity. While gene testing of TPMT is being clinically implemented, it is unclear if additional genetic variation influences TPMT activity with ...
Tamm, R, Mägi, R, Tremmel, R, Winter, S, Mihailov, E, Smid, A, Möricke, A, Klein, K, Schrappe, M, Stanulla, M, Houlston, R, Weinshilboum, R, Mlinarič Raščan, I, Metspalu, A, Milani, L, Schwab, M, Schaeffeler, E   +16 more
openaire   +4 more sources

Liver Injury From Medications Used for Treating Inflammatory Bowel Disease: The Drug-Induced Liver Injury Network Experience. [PDF]

Liver Int
ABSTRACT Background We aimed to investigate and characterise DILI due to approved therapies for inflammatory bowel disease (IBD). Methods Using the Drug‐Induced Liver Injury Network (DILIN) prospective study, we evaluated definite, highly likely, or probable DILI attributed to IBD therapies, including use for non‐IBD indications (but excluding ...
Gopalakrishna H, Gu J, Li YJ, Barnhart H, Halegoua-DeMarzio D, Bonkovsky HL, Barritt AS, Molleston JP, Chalasani NP, Ghabril M.   +9 more
europepmc   +2 more sources

Pharmacogenomics of Thiopurine Drugs: A Bench‐To‐Bedside Success Story in Thailand [PDF]

Clinical and Translational Science
Thiopurine drugs are the cornerstone treatment for many diseases such as acute lymphoblastic leukemia (ALL), organ rejection, inflammatory bowel disease (IBD), systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and other autoimmune diseases ...
Mohitosh Biswas, Shobana John, Murshadul Alam Murad, Chonlaphat Sukasem   +3 more
doaj   +2 more sources

Higher prevalence of NUDT15 rs116855232 compared to TPMT rs1142345 in a Chinese cohort and its implications for thiopurine therapy [PDF]

Frontiers in Pharmacology
BackgroundThiopurine drugs are widely used as immunosuppressants and chemotherapeutic agents in clinical practice, but their adverse effects significantly limit their clinical application. TPMT c.719A>G (rs1142345) and NUDT15 c.415C>T (rs116855232)
Chenyu Zhao, Chenyu Zhao, Hui Huang
doaj   +2 more sources