ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease. | ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease. Jena A, Grover N, Bhatia P, Singh M, Lad D, Prasad KK, Singh H, Dutta U, Sharma V. | 05/22/2024 |
Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population. | Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population. Deva R, Rajendran P, Ramasamy S, Selvan S, Ramasamy K. | 04/18/2024 |
Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients. | Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients. Heidari M, Khalili M, Balouchi F, Roozbeh J, Shamsaefar AR, Malek Hosseini SA, Karimi MH. | 09/18/2023 |
Investigation of the Association Between the ITPA Gene 94C>A Gene Sequence Variant and Liver Transplant Rejection in Iranian Liver Transplant Recipients. | Investigation of the Association Between the ITPA Gene 94C>A Gene Sequence Variant and Liver Transplant Rejection in Iranian Liver Transplant Recipients. Heidari M, Khalili M, Malek Hosseini SA, Geramizadeh B, Shamsaefar AR, Balouchi F, Karimi MH. | 02/4/2023 |
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature. | Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature. Sharma Y, Saini AG, Kaur R, Bhatia V, Didwal G, Kumar P, Uppala R. | 07/23/2022 |
Inosine Triphosphate Pyrophosphatase and NUDT15 are Good Predictors of Clinical Outcomes in Thiopurine-Treated Chinese Patients with Inflammatory Bowel Disease. | Inosine Triphosphate Pyrophosphatase and NUDT15 are Good Predictors of Clinical Outcomes in Thiopurine-Treated Chinese Patients with Inflammatory Bowel Disease. Luo X, Yan S, Jin L, Zhu H, Zhang X, Ge W. | 05/21/2022 |
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. | Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H., Free PMC Article | 05/7/2022 |
Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies. | Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies. Zamzami MA., Free PMC Article | 04/16/2022 |
Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis. | Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis. Barba E, Kontou PI, Michalopoulos I, Bagos PG, Braliou GG. | 03/12/2022 |
Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients. | Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients. Singh A, Gangadharan H, Gupta V, Patro PS, Misra R, Aggarwal A. | 12/4/2021 |
Association of genetic variants in TPMT, ITPA, and NUDT15 with azathioprine-induced myelosuppression in southwest china patients with autoimmune hepatitis. | Association of genetic variants in TPMT, ITPA, and NUDT15 with azathioprine-induced myelosuppression in southwest china patients with autoimmune hepatitis. Miao Q, Yan L, Zhou Y, Li Y, Zou Y, Wang L, Bai Y, Zhang J., Free PMC Article | 11/6/2021 |
Structural dynamics of inosine triphosphate pyrophosphatase (ITPA) protein and two clinically relevant mutants: molecular dynamics simulations. | Structural dynamics of inosine triphosphate pyrophosphatase (ITPA) protein and two clinically relevant mutants: molecular dynamics simulations. Houndonougbo Y, Pugh B, VanWormer K, April C, Burgis N. | 07/24/2021 |
We evaluated the role of inosine triphosphatase (ITPA) in 6-mercaptopurine (6-MP) sensitivity during treatment of pediatric patients with acute lymphoblastic leukemia | The Role of TPMT, ITPA, and NUDT15 Variants during Mercaptopurine Treatment of Swedish Pediatric Patients with Acute Lymphoblastic Leukemia. Wahlund M, Nilsson A, Kahlin AZ, Broliden K, Myrberg IH, Appell ML, Berggren A. | 06/20/2020 |
ITPA genotype and erythrocyte RTP concentrations were major factors associated with reduced Hb levels in RBV therapy for CHC. | Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype. Tanaka Y, Inoue A, Mizunuma T, Matsumura H, Yokomori H, Komiyama T, Otori K. | 03/14/2020 |
TPMT *3C and TPMT*12 are the key determinants of 6-mercaptopurine-mediated hematological toxicity in acute lymphoblastic leukemia, while other variants of TPMT (int3, int4 and int7) and ITPA ex2 interact synergistically with TPMT*3C or TPMT*12 variant alleles to enhance the toxicity | Classification and regression tree-based prediction of 6-mercaptopurine-induced leucopenia grades in children with acute lymphoblastic leukemia. Naushad SM, Dorababu P, Rupasree Y, Pavani A, Raghunadharao D, Hussain T, Alrokayan SA, Kutala VK. | 02/15/2020 |
Genetic analysis of 85 unrelated "mutation negative" probands with Martsolf or Martsolf-like syndromes identified two individuals with different homozygous null mutations in ITPA, the gene encoding inosine triphosphate pyrophosphatase (ITPase). Both probands were from multiplex families with a consistent, lethal and highly distinctive disorder; a Martsolf-like syndrome with infantile-onset dilated cardiomyopathy. | ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR., Free PMC Article | 09/21/2019 |
Thiopurine methyltransferase (TPMT) and inosine triphosphatase (ITPA) genotypes significantly influence the metabolism of 6-mercaptopurine (6MP). | Role of TPMT and ITPA variants in mercaptopurine disposition. Gerbek T, Ebbesen M, Nersting J, Frandsen TL, Appell ML, Schmiegelow K. | 03/30/2019 |
Inosine triphosphate pyrophosphatase dephosphorylates ribavirin triphosphate, and reduced enzymatic activity potentiates mutagenesis in hepatitis C virus. | Inosine Triphosphate Pyrophosphatase Dephosphorylates Ribavirin Triphosphate and Reduced Enzymatic Activity Potentiates Mutagenesis in Hepatitis C Virus. Nyström K, Wanrooij PH, Waldenström J, Adamek L, Brunet S, Said J, Nilsson S, Wind-Rotolo M, Hellstrand K, Norder H, Tang KW, Lagging M., Free PMC Article | 09/22/2018 |
This study suggests that the polymorphisms in the ITPA gene influence the severity of anaemia during the first month of a DAA/RBV-based treatment in HCV-related cirrhosis. | ITPase activity modulates the severity of anaemia in HCV-related cirrhosis treated with ribavirin-containing interferon-free regimens. Coppola N, De Pascalis S, Messina V, Di Caprio G, Martini S, de Stefano G, Starace M, Stornaiuolo G, Stanzione M, Ascione T, Minichini C, Sangiovanni V, Zampino R, Calò F, Rinaldi L, Persico M, Federico A, Buonomo AR, Borgia G, Gaeta GB, Filippini P, Gentile I. | 08/4/2018 |
baseline testing of this single ITPA SNP might help to identify the subset of patients with the greatest risk for experiencing RBV-induced anaemia, which may be particularly helpful in those with underlying cardiovascular disease. In such patients, RBV-sparing regimens should be preferred. | Impact of ITPA gene polymorphisms on the risk of ribavirin-induced haemolytic anaemia using interferon-free antivirals for chronic hepatitis C. Esposito I, Benítez-Gutiérrez L, Treviño A, Arias A, Citores MJ, Requena S, Soriano V, Cuervas-Mons V, de Mendoza C. | 08/4/2018 |
The authors analysed ITPA-deficient human and mouse cells, and revealed that ITPA deficiency induces MLH1/PMS2- and p53-dependent growth arrest and DNA instability in mammalian cells. | Deoxyinosine triphosphate induces MLH1/PMS2- and p53-dependent cell growth arrest and DNA instability in mammalian cells. Yoneshima Y, Abolhassani N, Iyama T, Sakumi K, Shiomi N, Mori M, Shiomi T, Noda T, Tsuchimoto D, Nakabeppu Y., Free PMC Article | 07/14/2018 |
ITPA variant rs1127354C>A significantly predict RBV-induced anaemia during the first 3 months of treatment and it is recommended to be assessed before RBV administration | The role of ITPA and ribavirin transporter genes polymorphisms in prediction of ribavirin-induced anaemia in chronic hepatitis C Egyptian patients. El Desoky ES, Abdelhafez AT, Cusato J, Kamel SI, Hussein AM, De Nicolo A, Di Perri G, D'Avolio A. | 04/7/2018 |
The ITPA gene polymorphism rs1127354 heterozygous genotype (CA) may influence Hemoglobin levels and protect against hemolytic anemia during ribavirin containing regimens for hepatitis C | ITPA gene polymorphism (94C>A) effects on ribavirin-induced anemia during therapy in Egyptian patients with chronic hepatitis C. El Raziky M, Zayed NA, Abdel Baki A, Mansour SA, Shahin RMH. | 04/7/2018 |
Four gene signature (PTEN, PIK3C2A, ITPA and BCL3) is an independent prognostic factors of both overall survival and disease-free survival in clear-cell renal-cell carcinoma. | A four-gene signature predicts survival in clear-cell renal-cell carcinoma. Dai J, Lu Y, Wang J, Yang L, Han Y, Wang Y, Yan D, Ruan Q, Wang S., Free PMC Article | 02/24/2018 |
Inosine triphosphatase polymorphism appeared to correlate with anemia in- cidence and RBV dose reduction during SOF/RBV therapy. | Correlation between polymorphism in the inosine triphosphatase and the reductions in hemoglobin concentration and ribavirin dose during sofosbuvir and ribavirin therapy. Kozuka R, Hai H, Teranishi Y, Motoyama H, Kawamura E, Hagihara A, Uchida-Kobayashi S, Morikawa H, Enomoto M, Murakami Y, Kawada N, Tamori A. | 11/18/2017 |