A. Marinaki

发表

The pharmacogenetic basis of individual variation in thiopurine metabolism.

J. Sanderson, P. Blaker, M. Arenas-Hernandez, 2012, Personalized medicine.

Thiopurines in Inflammatory Bowel Disease: New Findings and Perspectives

J. Sanderson, M. Neurath, L. Peyrin-Biroulet, 2018, Journal of Crohn's & colitis.

Review article: malignancy on thiopurine treatment with special reference to inflammatory bowel disease

J. Sanderson, P. Irving, J. Sanderson, 2010, Alimentary pharmacology & therapeutics.

A Novel Nucleotide Found in Human Erythrocytes, 4-Pyridone-3-carboxamide-1-β-d-ribonucleoside Triphosphate*

M. Yacoub, H. Simmonds, P. Sowiński, 2006, Journal of Biological Chemistry.

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

J. Sanderson, R. D. De Abreu, S. Thein, 2002, Human Genetics.

Lesch–Nyhan disease in a 20-year- old man incorrectly described as developing ‘cerebral palsy’ after general anaesthesia in infancy

J. Christodoulou, R. Ouvrier, J. Duley, 2006, Journal of Inherited Metabolic Disease.

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

J. Ott, R. Torres, J. Fryns, 2003, European Journal of Human Genetics.

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

A. Hattersley, S. Ellard, K. Owen, 2003, Kidney international.

From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis

A. Marinaki, G. Venkat-Raman, Christine Gast, 2016, Pediatric Nephrology.

Exome array analysis of adverse reactions to fluoropyrimidine-based therapy for gastrointestinal cancer

C. Lewis, N. Prescott, J. Sanderson, 2018, PloS one.

Reducing risk in thiopurine therapy

M. Arenas-Hernandez, A. Marinaki, 2020, Xenobiotica; the fate of foreign compounds in biological systems.

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.

H. Togari, A. Marinaki, S. Sumi, 2005, Molecular genetics and metabolism.

Getting the best out of thiopurine therapy: thiopurine S-methyltransferase and beyond.

J. Sanderson, P. Blaker, M. Arenas-Hernandez, 2015, Biomarkers in medicine.

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

C. Lewis, J. Barker, Catherine H. Smith, 2007, The Journal of investigative dermatology.

Novel pharmacogenetic markers for treatment outcome in azathioprine‐treated inflammatory bowel disease

C. Lewis, J. Sanderson, J. Duley, 2009, Alimentary pharmacology & therapeutics.

A practical guide to the use of thiopurines in oral medicine.

J. Sanderson, M. Escudier, P. Blaker, 2015, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

Optimizing the use of thiopurines in inflammatory bowel disease

J. Sanderson, A. Mentzer, P. Blaker, 2015, Therapeutic advances in chronic disease.

4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism

H. Simmonds, A. Laurence, D. Goldsmith, 2007, Clinical and Experimental Medicine.

An Unusual Pyridine Nucleotide Accumulating in Erythrocytes: Its Identity, and Positive Correlation with Degree of Renal Failure

H. Simmonds, A. Laurence, D. Goldsmith, 2004, Nucleosides, nucleotides & nucleic acids.

Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure.

H. Simmonds, A. Laurence, D. Goldsmith, 2003, Clinica chimica acta; international journal of clinical chemistry.

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

Y. Chagnon, M. Kalbáčová, J. Fryns, 2005, Kidney international.

Exercise-induced mitochondrial dysfunction in an elite athlete.

T. Noakes, A. St. Clair Gibson, M. Lambert, 1998, Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine.

Typing TPMT and ITPase to detect azathioprine toxicity.

J. Sanderson, A. Marinaki, A. Ansari, 2006, Personalized medicine.

Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.

H. Simmonds, L. Fairbanks, A. Marinaki, 2002, Pediatrics.

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

William A. Richardson, N. Gray, P. Rudan, 2008, Nature Genetics.

Diagnostic Tests for Primary Renal Hypouricemia

A. Marinaki, M. Hosoyamada, J. Bártl, 2011, Nucleosides, nucleotides & nucleic acids.

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

C. Lewis, J. Sanderson, J. Duley, 2004, Pharmacogenetics.

Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians

C. Lewis, J. Sanderson, J. Duley, 2003 .

DPYD Genotyping as a Potential Cost-effective Predictive Biomarker of Capecitabine Toxicity in Breast Cancer

L. Karapanagiotou, J. Mansi, D. Papadatos-Pastos, 2015 .

Pyrimidine pathways in health and disease.

H. Simmonds, L. Fairbanks, A. Marinaki, 2005, Trends in molecular medicine.

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

J. Duley, L. Fairbanks, A. Marinaki, 2002, Journal of Inherited Metabolic Disease.

Thioguanine in inflammatory bowel disease: Long-term efficacy and safety

J. Sanderson, P. Irving, T. Elliott, 2017, United European gastroenterology journal.

The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients

J. Sanderson, P. Ross, L. Fairbanks, 2009, Cancer Chemotherapy and Pharmacology.

Pyrimidine 5′ Nucleotidase Deficiency

J. Duley, D. Rees, A. Marinaki, 2003, British journal of haematology.

Genotyping before azathioprine administration in dermatology

K. Shipman, A. Marinaki, A. Shipman, 2021, Clinical and experimental dermatology.

Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects

Robert W. Taylor, M. Zamzami, T. Florin, 2013, Journal of Hematology & Oncology.

Rejuvenation of RBCs: validation of a manufacturing method suitable for clinical use

R. Cardigan, P. Smethurst, G. Murphy, 2019, Transfusion.

Azathioprine and breastfeeding—is it safe?

C. Nelson-Piercy, A. Marinaki, A. Sau, 2007, BJOG : an international journal of obstetrics and gynaecology.

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

L. Fairbanks, A. Marinaki, M. Arenas, 2009, Journal of Inherited Metabolic Disease.

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

J. Sanderson, S. Anderson, P. Irving, 2012, Journal of Crohn's & colitis.

Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease

J. Sanderson, J. Lindsay, J. Duley, 2008, Alimentary pharmacology & therapeutics.

Modern diagnostic approach to hereditary xanthinuria

L. Fairbanks, A. Marinaki, J. Bártl, 2015, Urolithiasis.

Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations

J. Sanderson, S. Newhouse, J. Spicer, 2014, The Pharmacogenomics Journal.

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 review and meta-analysis of individual patient data.

J. Sanderson, U. Amstutz, I. Tomlinson, 2015, The Lancet. Oncology.

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.

E. Harley, H. Simmonds, G. Magni, 2001, Blood.

deficiency nucleotidase ' Genetic basis of hemolytic anemia caused by pyrimidine 5

E. Harley, H. Simmonds, G. Magni, 2013 .

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

K. Ghosh, M. Madkaikar, M. Desai, 2011, BMJ Case Reports.

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

L. Fairbanks, A. Marinaki, M. Arenas, 2011, Nucleosides, nucleotides & nucleic acids.

The impact of introducing thioguanine nucleotide monitoring into an inflammatory bowel disease clinic

J. Sanderson, P. Irving, J. Sanderson, 2013, International journal of clinical practice.

A PCR technique for forensic, species-level identification of abalone tissue.

E. Harley, R. Bowie, N. Sweijd, 1998 .

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

E. Seaby, D. Gale, K. Hodaňová, 2018, BMC Nephrology.

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation

L. Fairbanks, A. Marinaki, M. Arenas, 2011, Nucleosides, nucleotides & nucleic acids.

Further experience with the use of 6‐thioguanine in patients with Crohn's disease

J. Sanderson, B. Portmann, S. Lucas, 2008, Inflammatory bowel diseases.

Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease

C Hassan, J. Sanderson, C. Hassan, 2002, Alimentary pharmacology & therapeutics.

Mutation in the ITPA Gene Predicts Intolerance to Azathioprine

C. Lewis, J. Sanderson, J. Duley, 2003, Nucleosides, nucleotides & nucleic acids.

Let's get personal: predicting thiopurine and fluoropyrimidine toxicity.

J. Sanderson, P. Blaker, M. Arenas-Hernandez, 2012, Personalized medicine.

Thiopurine Treatment in Inflammatory Bowel Disease

R. Gearry, M. Barclay, E. Begg, 2007, Clinical pharmacokinetics.

Influence of xanthine oxidase on thiopurine metabolism in Crohn’s disease

J. Sanderson, J. Duley, L. Fairbanks, 2008, Alimentary pharmacology & therapeutics.

Genetic Determinants of the Pre‐ and Post‐Azathioprine Therapy Thiopurine Methyltransferase Activity Phenotype

J. Sanderson, J. Duley, L. Fairbanks, 2004 .

Pharmacogenomics in the treatment of inflammatory bowel disease.

J. Sanderson, A. Marinaki, Melissa Smith, 2010, Pharmacogenomics.

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene.

J. Sanderson, J. Duley, A. Marinaki, 2007, Biochimica et biophysica acta.

Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation

P. Hayes, D. Breen, A. Marinaki, 2005, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

A Biochemical Mechanism for the Role of Allopurinol in TPMT Inhibition

J. Sanderson, P. Irving, L. Fairbanks, 2011 .

Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.

L. Fairbanks, V. Shivarov, A. Marinaki, 2018, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

A practical guide to thiopurine prescribing and monitoring in IBD

J. Sanderson, E. Johnston, P. Irving, 2016, Frontline Gastroenterology.

Do ITPA and TPMT genotypes predict the development of side effects to AZA?

T. Florin, J. Duley, A. Marinaki, 2006, Gut.

Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity.

C. Lewis, J. Sanderson, J. Duley, 2005, Clinical chemistry.

Acute kidney injury in two children caused by renal hypouricaemia type 2

A. Marinaki, B. Stibůrková, I. Šebesta, 2012, Pediatric Nephrology.