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 …
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
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 …
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 …
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
Background Mutations of the human FAM111B gene are associated with hereditary fibrosing
poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare …
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 …
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 …
(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
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 …
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 …
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 …
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 …
deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are …