Genomes and Genes
Anthony M Marinaki
Affiliation: King's College London
- Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defectsMazin A Zamzami
King Abdulaziz University, Jeddah, Saudi Arabia
J Hematol Oncol 6:24. 2013..Furthermore, we investigated whether accumulating mtDNA defects may then be a risk factor for cell transformation, in adult haematological malignancy (AHM)...
- Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and CaucasiansAnthony M Marinaki
Purine Research and Department of Gastroenterology, Guy s and St Thomas Hospital, London SE1 9RT, UK
Pharmacogenetics 13:97-105. 2003..Here we present the allele frequencies of genetic modifiers of TPMT activity in a British Asian population, as well as the concordance between intermediate TPMT activity and ORF and VNTR genotypes in a predominantly Caucasian population...
- The diagnosis of inherited metabolic diseases by microarray gene expression profilingMonica Arenas Hernandez
Purine Research Laboratory, GSTS Pathology, Guy s and St, Thomas Hospitals, London, UK
Orphanet J Rare Dis 5:34. 2010..We aimed to define gene expression signatures characteristic of defective metabolic pathways...
- Genetic variation in the MTHFR gene influences thiopurine methyltransferase activityMonica Arenas
Purine Research Laboratory, Department of Chemical Pathology, Guy s and St Thomas Hospital NHS Trust, London, UK
Clin Chem 51:2371-4. 2005
- Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase)Anthony M Marinaki
Purine Research Laboratory, Department of Chemical Pathology and Department of Gastroenterology, Guy s and St Thomas Hospital, London, UK
Pharmacogenetics 14:181-7. 2004..5, 95% CI 1.4-21.3, P = 0.0206). Polymorphism in the ITPA gene predicts AZA intolerance. Alternative immunosuppressive drugs, particularly 6-thioguanine, should be considered for AZA-intolerant patients with ITPase deficiency...
- Pharmacogenomics in the treatment of inflammatory bowel diseaseMelissa A Smith
Department of Gastroenterology, 1st Floor, College House, St Thomas Hospital, Lambeth Palace Road, London, SE1 7EH, UK
Pharmacogenomics 11:421-37. 2010....
- Polymorphisms in folate, pyrimidine, and purine metabolism are associated with efficacy and toxicity of methotrexate in psoriasisEmanuela Campalani
King s College, Skin Therapy Research Unit, St John s Institute of Dermatology, London, UK
J Invest Dermatol 127:1860-7. 2007..We have demonstrated preliminary evidence that specific polymorphisms of enzymes involved in folate, pyrimidine, and purine metabolism could be useful in predicting clinical response to methotrexate in patients with psoriasis...
- The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patientsAathavan Loganayagam
Department of Gastroenterology, Guy s and St Thomas Hospital NHS Foundation Trust, College House, St Thomas Hospital, London, UK
Cancer Chemother Pharmacol 65:403-6. 2010..The study aim was to assess the contribution of deleterious DPYD sequence variants to fluoropyrimidine toxicity amongst British cancer patients...
- Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three casesClaire T Lundy
Department of Paediatric Neurology, Evelina Children s Hospital, Guy s and St Thomas NHS Foundation Trust, St Thomas Hospital, London, UK
Pediatr Neurol 43:351-4. 2010..Reported here are the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency, to further delineate the clinical phenotype and to raise awareness of this disorder...