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Select item 91525721.

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Marcello Scala, Saskia B. Wortmann, Namik Kaya, Menno D. Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D. van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka‐Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B. Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G. Karimiani, Yilmaz Yildiz, Ahmet C. Ceylan, Teresa Santiago‐Sim, Amy Dameron, Hui Yang, Mehran B. Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S. Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A. Al‐Muhaizea, Meznah O. Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H. Alwadei, Maha M. AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A. Lines, M. Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P. Ferla, Jenny C. Taylor, Hessa S. Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt‐Mechelke, Andreas Ziegler, Mahmoud Y. Issa, Hasnaa M. Elbendary, Pasquale Striano, Fowzan S. Alkuraya, Maha S. Zaki, Joseph G. Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S. van der Knaap, Reza Maroofian, Henry Houlden

Hum Mutat. 2022 Mar; 43(3): 403–419. Published online 2022 Jan 12. doi: 10.1002/humu.24326

PMCID:: PMC9152572

Abstract Article PDF–1.5M

Select item 88339652.

Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies

Mazin A. Zamzami

Cells. 2022 Feb; 11(3): 384. Published online 2022 Jan 24. doi: 10.3390/cells11030384

PMCID:: PMC8833965

Abstract Article PDF–1.6M

Select item 61467983.

Inosine Triphosphate Pyrophosphatase Dephosphorylates Ribavirin Triphosphate and Reduced Enzymatic Activity Potentiates Mutagenesis in Hepatitis C Virus

Kristina Nyström, Paulina H. Wanrooij, Jesper Waldenström, Ludmila Adamek, Sofia Brunet, Joanna Said, Staffan Nilsson, Megan Wind-Rotolo, Kristoffer Hellstrand, Helene Norder, Ka-Wei Tang, Martin Lagging

J Virol. 2018 Oct 1; 92(19): e01087-18. Prepublished online 2018 Jul 25. Published online 2018 Sep 12. doi: 10.1128/JVI.01087-18

PMCID:: PMC6146798

Abstract Article PDF–1.7M

Select item 55219204.

The relationship between ITPA rs1127354 polymorphisms and efficacy of antiviral treatment in Northeast Chinese CHC patients

Zhenhua Liu, Song Wang, Wenqian Qi, Xu Wang, Derong Sun, Hongguang Wang, Yonggui Zhang, Zhongxie Li, Liying Zhu, Ping Zhao, Honghua Guo, Changyu Zhou, Jiangbin Wang

Medicine (Baltimore) 2017 Jul; 96(29): e7554. Published online 2017 Jul 21. doi: 10.1097/MD.0000000000007554

PMCID:: PMC5521920

Abstract Article PDF–375K

Select item 45950475.

Relationship between ITPA polymorphisms and hemolytic anemia in HCV-infected patients after ribavirin-based therapy: a meta-analysis

Daniel Pineda-Tenor, Mónica García-Álvarez, María A. Jiménez-Sousa, Sonia Vázquez-Morón, Salvador Resino

J Transl Med. 2015; 13: 320. Published online 2015 Oct 6. doi: 10.1186/s12967-015-0682-y

PMCID:: PMC4595047

Abstract Article PDF–2.6M

Select item 43510296.

Association between IPTA Gene Polymorphisms and Hematological Abnormalities in Hepatitis C Virus-Infected Patients Receiving Combination Therapy

Jow-Jyh Hwang, Ching-Chu Lo, Chien-Hung Lin, Hsu-Sheng Cheng, I-Wen Hung, Wan-Ju Tsai, Chien-Hui Hung

Gut Liver. 2015 Mar; 9(2): 214–223. Published online 2014 Oct 7. doi: 10.5009/gnl14095

PMCID:: PMC4351029

Abstract Article PDF–458K

Select item 42122767.

The human ITPA polymorphic variant P32T is destabilized by the unpacking of the hydrophobic core

Peter D. Simone, Lucas R. Struble, Admir Kellezi, Carrie A. Brown, Corinn E. Grabow, Irine Khutsishvili, Luis A. Marky, Youri I. Pavlov, Gloria E.O. Borgstahl

J Struct Biol. Author manuscript; available in PMC 2014 Oct 29.

Published in final edited form as: J Struct Biol. 2013 Jun; 182(3): 197–208. Published online 2013 Mar 23. doi: 10.1016/j.jsb.2013.03.007

PMCID:: PMC4212276

Abstract Article PDF–1.4M

Select item 41937818.

Association of ITPA Genotype with Event-Free Survival and Relapse Rates in Children with Acute Lymphoblastic Leukemia Undergoing Maintenance Therapy

Alenka Smid, Natasa Karas-Kuzelicki, Miha Milek, Janez Jazbec, Irena Mlinaric-Rascan

PLoS One. 2014; 9(10): e109551. Published online 2014 Oct 10. doi: 10.1371/journal.pone.0109551

PMCID:: PMC4193781

Abstract Article PDF–566K

Select item 41290879.

Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in Chinese ALL children and possible association with mercaptopurine related toxicity

Xiaoli Ma, Jie Zheng, Mei Jin, Weijing Li, Chao Gao, Dawei Zhang, Yiqiao Chen, Xingjun Li, Jianjun Xie

Int J Clin Exp Pathol. 2014; 7(7): 4552–4556. Published online 2014 Jun 15.

PMCID:: PMC4129087

Abstract Article PDF–230K

Select item 399740610.

Limited Utility of ITPA Deficiency to Predict Early Anemia in HCV Patients with Advanced Fibrosis Receiving Telaprevir

Alessio Aghemo, Eleonora Grassi, Maria Grazia Rumi, Roberta D'Ambrosio, Enrico Galmozzi, Elisabetta Degasperi, Davide Castaldi, Roberta Soffredini, Massimo Colombo

PLoS One. 2014; 9(4): e95881. Published online 2014 Apr 23. doi: 10.1371/journal.pone.0095881

PMCID:: PMC3997406

Abstract Article PDF–278K

Select item 376549711.

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

Mazin A Zamzami, John A Duley, Gareth R Price, Deon J Venter, John W Yarham, Robert W Taylor, Laurence P Catley, Timothy HJ Florin, Anthony M Marinaki, Francis Bowling

J Hematol Oncol. 2013; 6: 24. Published online 2013 Mar 29. doi: 10.1186/1756-8722-6-24

PMCID:: PMC3765497

Abstract Article PDF–436K

Select item 374471112.

The Impact of Inosine Triphosphatase Variants on Hemoglobin Level and Sustained Virologic Response of Chronic Hepatitis C in Korean

Ju Seung Kim, Sung-Min Ahn, Young Kul Jung, Oh Sang Kwon, Yun Soo Kim, Duck Joo Choi, Ju Hyun Kim

J Korean Med Sci. 2013 Aug; 28(8): 1213–1219. Published online 2013 Jul 31. doi: 10.3346/jkms.2013.28.8.1213

PMCID:: PMC3744711

Abstract Article PDF–239K

Select item 360249813.

Pre-treatment role of inosine triphosphate pyrophosphatase polymorphism for predicting anemia in Egyptian hepatitis C virus patients

Walaa H Ahmed, Norihiro Furusyo, Saad Zaky, Abeer Sharaf Eldin, Hany Aboalam, Eiichi Ogawa, Masayuki Murata, Jun Hayashi

World J Gastroenterol. 2013 Mar 7; 19(9): 1387–1395. Published online 2013 Mar 7. doi: 10.3748/wjg.v19.i9.1387

PMCID:: PMC3602498

Abstract Article PDF–982K

Select item 351892114.

ITPA Gene Polymorphisms Significantly Affect Hemoglobin Decline and Treatment Outcomes in Patients Coinfected With HIV and HCV

Anu Osinusi, Susanna Naggie, Seerat Poonia, Martin Trippler, Zonghui Hu, Emily Funk, Joerg Schlaak, Dawn Fishbein, Henry Masur, Michael Polis, Shyam Kottilil

J Med Virol. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: J Med Virol. 2012 Jul; 84(7): 1106–1114. doi: 10.1002/jmv.23302

PMCID:: PMC3518921

Abstract Article PDF–1.5M

Select item 349159415.

Several factors including ITPA polymorphism influence ribavirin-induced anemia in chronic hepatitis C

Akihito Tsubota, Noritomo Shimada, Hiroshi Abe, Kai Yoshizawa, Rie Agata, Yoko Yumoto, Makiko Ika, Yoshihisa Namiki, Keisuke Nagatsuma, Hiroshi Matsudaira, Kiyotaka Fujise, Norio Tada, Yoshio Aizawa

World J Gastroenterol. 2012 Nov 7; 18(41): 5879–5888. Published online 2012 Nov 7. doi: 10.3748/wjg.v18.i41.5879

PMCID:: PMC3491594

Abstract Article PDF–960K

Select item 337081116.

Association of ITPA Gene Polymorphisms and the Risk of Ribavirin-Induced Anemia in HIV/Hepatitis C Virus (HCV)-Coinfected Patients Receiving HCV Combination Therapy

Pere Domingo, Josep M. Guardiola, Juliana Salazar, Ferran Torres, M. Gracia Mateo, Cristina Pacho, M. del Mar Gutierrez, Karuna Lamarca, Angels Fontanet, Jordi Martin, Jessica Muñoz, Francesc Vidal, Montserrat Baiget

Antimicrob Agents Chemother. 2012 Jun; 56(6): 2987–2993. doi: 10.1128/AAC.06473-11

PMCID:: PMC3370811

Abstract Article PDF–345K

Select item 326021917.

Erythrocyte Inosine Triphosphatase Activity Is Decreased in HIV-Seropositive Individuals

Jörgen Bierau, Jaap A. Bakker, Jolanda A. Schippers, Janine A. C. Grashorn, Martijn Lindhout, Selwyn H. Lowe, Aimée D. C. Paulussen, Annelies Verbon

PLoS One. 2012; 7(1): e30175. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0030175

PMCID:: PMC3260219

Abstract Article PDF–165K

Select item 308667118.

Variants in the ITPA Gene Protect Against Ribavirin-Induced Hemolytic Anemia and Decrease the Need for Ribavirin Dose Reduction

Alexander. J. Thompson, Jacques Fellay, Keyur Patel, Hans L. Tillmann, Susanna Naggie, Dongliang Ge, Thomas J. Urban, Kevin V. Shianna, Andrew J. Muir, Michael W. Fried, Nezam H. Afdhal, David B. Goldstein, John G. Mchutchison

Gastroenterology. Author manuscript; available in PMC 2011 May 3.

Published in final edited form as: Gastroenterology. 2010 Oct; 139(4): 1181–1189. Published online 2010 Jun 12. doi: 10.1053/j.gastro.2010.06.016

PMCID:: PMC3086671

Abstract Article PDF–371K

Select item 281857319.

Quantitative in vitro and in vivo characterization of the human P32T mutant ITPase

Greg Herting, Katie Barber, Maria R. Zappala, Richard P. Cunningham, Nicholas E. Burgis

Biochim Biophys Acta. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Biochim Biophys Acta. 2010 Feb; 1802(2): 269. Published online 2009 Nov 13. doi: 10.1016/j.bbadis.2009.11.002

PMCID:: PMC2818573

Abstract Article PDF–1016K

Select item 274593120.

Functional Study of the P32T ITPA Variant Associated with Drug Sensitivity in Humans

Elena I. Stepchenkova, Elena R. Tarakhovskaya, Kathryn Spitler, Christin Frahm, Miriam R. Menezes, Peter D. Simone, Carol Kolar, Luis A. Marky, Gloria E. O. Borgstahl, Youri I. Pavlov

J Mol Biol. Author manuscript; available in PMC 2010 Sep 25.

Published in final edited form as: J Mol Biol. 2009 Sep 25; 392(3): 602–613. Published online 2009 Jul 23. doi: 10.1016/j.jmb.2009.07.051

PMCID:: PMC2745931

Abstract Article PDF–3.1M

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