Thiopurine drugs in the treatment of ulcerative colitis: identification of a novel deleterious mutation in TPMT

PO Harmand, J Solassol - Genes, 2020 - mdpi.com
Chronic inflammatory bowel disease (IBD) includes Crohn's disease and ulcerative colitis.
Both are characterized by inflammation of part of the digestive tract lining. Azathioprine …

ITPA, TPMT, and NUDT15 Genetic Polymorphisms Predict 6-Mercaptopurine Toxicity in Middle Eastern Children With Acute Lymphoblastic Leukemia

B Moradveisi, S Muwakkit, F Zamani… - Frontiers in …, 2019 - frontiersin.org
Background: Acute lymphoblastic leukemia (ALL) is the most common cancer seen in
children worldwide and in the Middle East. Although there have been major advances in …

[HTML][HTML] Effective long-term solution to therapeutic remission in inflammatory bowel disease: role of azathioprine

L Adam, A Phulukdaree, P Soma - Biomedicine & Pharmacotherapy, 2018 - Elsevier
Azathioprine (AZA) is a well-known immunosuppressant used for many years for its ability to
ensure long term disease remission in inflammatory bowel diseases (IBD) at an affordable …

A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome

A Arowolo, C Rhoda, M Mbele, OG Oluwole… - Egyptian Journal of …, 2022 - Springer
Background Mutations of the human FAM111B gene are associated with hereditary fibrosing
poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare …

Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians

CC Ho, WY Fong, YH Lee, WT Poon - Genes, 2017 - mdpi.com
Thiopurines are clinically useful in the management of diverse immunological and malignant
conditions. Nevertheless, these purine analogues can cause lethal myelosuppression …

High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype

Y Kakuta, Y Izumiyama, D Okamoto, T Nakano… - Journal of …, 2020 - Springer
Background The genetic variants of NUDT15 have been verified to induce adverse events
(AEs) of thiopurines. Codon 139 variants are frequently observed in Asians, while multiple …

Tumor markers in non-small cell lung cancer spine metastasis: an assessment of prognosis and overall survival

B Foresi, A Shah, S Meade, A Krishnaney - European Spine Journal, 2024 - Springer
Purpose The identification of gene mutations in the modern medical workup of metastatic
spine tumors has become more common but has not been highly utilized in surgical …

[HTML][HTML] Association of TPMT and NUDT15 gene polymorphisms with azathioprine-induced leukopenia: A case–control study in Eastern India

S Mitra, A Ghosh, S Chatterjee… - Indian Journal of …, 2024 - journals.lww.com
BACKGROUND: Azathioprine (AZA) is a widely used immunosuppressant drug. Leukopenia
is a serious adverse effect of the drug which often necessitates dose reduction or drug …

Genetic variants in promoter regions associated with type 2 diabetes mellitus: A large‐scale meta‐analysis and subgroup analysis

L Wu, CC Wang - Journal of Cellular Biochemistry, 2019 - Wiley Online Library
Background Promoter plays important roles in regulating transcription of genes. Association
studies of genetic variants in promoter region with type 2 diabetes (T2D) risk have been …

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

CC Ho, LLY Tsung, KT Liu, WT Poon - BMC Medical Genetics, 2018 - Springer
Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by
deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are …