Clinical relevance of DPYD variants c. 1679T> G, c. 1236G> A/HapB3, and c. 1601G> A as predictors of severe fluoropyrimidine-associated toxicity: a systematic …

D Meulendijks, LM Henricks, GS Sonke… - The Lancet …, 2015 - thelancet.com
Background The best-known cause of intolerance to fluoropyrimidines is dihydropyrimidine
dehydrogenase (DPD) deficiency, which can result from deleterious polymorphisms in the …

Pyrimidine pathways in health and disease

M Löffler, LD Fairbanks, E Zameitat, AM Marinaki… - Trends in molecular …, 2005 - cell.com
Genetic defects involving enzymes essential for pyrimidine nucleotide metabolism have
provided new insights into the vital physiological functions of these molecules in addition to …

Thiopurines in inflammatory bowel disease: new findings and perspectives

NKH de Boer, L Peyrin-Biroulet, B Jharap… - Journal of Crohn's …, 2018 - academic.oup.com
Thiopurines, available as azathioprine, mercaptopurine, and thioguanine, are
immunomodulating agents primarily used to maintain corticosteroid-free remission in …

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

V Vitart, I Rudan, C Hayward, NK Gray, J Floyd… - Nature …, 2008 - nature.com
Uric acid is the end product of purine metabolism in humans and great apes, which have lost
hepatic uricase activity, leading to uniquely high serum uric acid concentrations (200–500 …

Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase)

AM Marinaki, A Ansari, JA Duley… - Pharmacogenetics …, 2004 - journals.lww.com
Adverse drug reactions to azathioprine (AZA), the pro-drug of 6-mercaptopurine (6-MP),
occur in 15% to 28% of patients and the majority are not explained by thiopurine …

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

S Sumi, AM Marinaki, M Arenas, L Fairbanks… - Human genetics, 2002 - Springer
Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited
condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in …

[HTML][HTML] Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

C Bingham, S Ellard, WG Van't Hoff, HA Simmonds… - Kidney international, 2003 - Elsevier
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear
factor-1β gene mutation. Background Familial juvenile hyperuricemic nephropathy (FJHN) is …

[HTML][HTML] Polymorphisms in folate, pyrimidine, and purine metabolism are associated with efficacy and toxicity of methotrexate in psoriasis

E Campalani, M Arenas, AM Marinaki, CM Lewis… - Journal of Investigative …, 2007 - Elsevier
Methotrexate is the gold standard therapy for moderate to severe psoriasis, but there is
marked interpersonal variation in its efficacy and toxicity. We hypothesized that in psoriasis …

Optimising outcome on thiopurines in inflammatory bowel disease by co-prescription of allopurinol

MA Smith, P Blaker, AM Marinaki… - Journal of Crohn's …, 2012 - academic.oup.com
Background and aims: Azathioprine and mercaptopurine remain first line
immunomodulatory treatments for inflammatory bowel disease. Toxicity and non-response …

malignancy on thiopurine treatment with special reference to inflammatory bowel disease

MA Smith, PM Irving, AM Marinaki… - Alimentary …, 2010 - Wiley Online Library
Aliment Pharmacol Ther 2010; 32: 119–130 Summary Background Immunosuppression is a
risk factor for carcinogenesis. Thiopurines specifically contribute to this. As thiopurines are …