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Predictive Value of NUDT15 Variants on Neutropenia Among Han Chinese Patients with Dermatologic Diseases: A Single-Center Observational Study.

Dermatology and therapy

Huang PW, Tseng YH, Tsai TF.
PMID: 32062783
Dermatol Ther (Heidelb). 2020 Apr;10(2):263-271. doi: 10.1007/s13555-020-00360-4. Epub 2020 Feb 15.

INTRODUCTION: Azathioprine is a synthetic purine analogue derived from 6-mercaptopurine which acts by disrupting nucleic acid synthesis and interfering with T cell activation. It is effective in dermatology diseases related to the immune system. However, its side effects, including...

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Huang PW, Tseng YH, Tsai TF. Predictive Value of NUDT15 Variants on Neutropenia Among Han Chinese Patients with Dermatologic Diseases: A Single-Center Observational Study. Dermatol Ther (Heidelb). 2020;10(2):263-271doi: 10.1007/s13555-020-00360-4.
Huang, P. W., Tseng, Y. H., & Tsai, T. F. (2020). Predictive Value of NUDT15 Variants on Neutropenia Among Han Chinese Patients with Dermatologic Diseases: A Single-Center Observational Study. Dermatology and therapy, 10(2), 263-271. https://doi.org/10.1007/s13555-020-00360-4
Huang, Po-Wei, et al. "Predictive Value of NUDT15 Variants on Neutropenia Among Han Chinese Patients with Dermatologic Diseases: A Single-Center Observational Study." Dermatology and therapy vol. 10,2 (2020): 263-271. doi: https://doi.org/10.1007/s13555-020-00360-4
Huang PW, Tseng YH, Tsai TF. Predictive Value of NUDT15 Variants on Neutropenia Among Han Chinese Patients with Dermatologic Diseases: A Single-Center Observational Study. Dermatol Ther (Heidelb). 2020 Apr;10(2):263-271. doi: 10.1007/s13555-020-00360-4. Epub 2020 Feb 15. PMID: 32062783; PMCID: PMC7090103.
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Regulation of Succinate Dehydrogenase in Higher Plants: II. Activation by Substrates, Reduced Coenzyme Q, Nucleotides, and Anions.

Plant physiology

Oestreicher G, Hogue P, Singer TP.
PMID: 16658618
Plant Physiol. 1973 Dec;52(6):622-6. doi: 10.1104/pp.52.6.622.

The effect of various agents on the activation of succinate dehydrogenase in cauliflower (Brassica oleracea) and mung bean (Phaseolus aureus) mitochondria and in sonicated particles has been investigated. Reduced coenzyme Q(10), inosine diphosphate, inosine triphosphate, acid pH, and anions...

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Oestreicher G, Hogue P, Singer TP. Regulation of Succinate Dehydrogenase in Higher Plants: II. Activation by Substrates, Reduced Coenzyme Q, Nucleotides, and Anions. Plant Physiol. 1973;52(6):622-6doi: 10.1104/pp.52.6.622.
Oestreicher, G., Hogue, P., & Singer, T. P. (1973). Regulation of Succinate Dehydrogenase in Higher Plants: II. Activation by Substrates, Reduced Coenzyme Q, Nucleotides, and Anions. Plant physiology, 52(6), 622-6. https://doi.org/10.1104/pp.52.6.622
Oestreicher, G, et al. "Regulation of Succinate Dehydrogenase in Higher Plants: II. Activation by Substrates, Reduced Coenzyme Q, Nucleotides, and Anions." Plant physiology vol. 52,6 (1973): 622-6. doi: https://doi.org/10.1104/pp.52.6.622
Oestreicher G, Hogue P, Singer TP. Regulation of Succinate Dehydrogenase in Higher Plants: II. Activation by Substrates, Reduced Coenzyme Q, Nucleotides, and Anions. Plant Physiol. 1973 Dec;52(6):622-6. doi: 10.1104/pp.52.6.622. PMID: 16658618; PMCID: PMC366559.
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Elevated Levels of DNA Strand Breaks Induced by a Base Analog in the Human Cell Line with the P32T ITPA Variant.

Journal of nucleic acids

Waisertreiger IS, Menezes MR, Randazzo J, Pavlov YI.
PMID: 20936128
J Nucleic Acids. 2010 Sep 26;2010. doi: 10.4061/2010/872180.

Base analogs are powerful antimetabolites and dangerous mutagens generated endogenously by oxidative stress, inflammation, and aberrant nucleotide biosynthesis. Human inosine triphosphate pyrophosphatase (ITPA) hydrolyzes triphosphates of noncanonical purine bases (i.e., ITP, dITP, XTP, dXTP, or their mimic: 6-hydroxyaminopurine (HAP)...

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Waisertreiger IS, Menezes MR, Randazzo J, et al. Elevated Levels of DNA Strand Breaks Induced by a Base Analog in the Human Cell Line with the P32T ITPA Variant. J Nucleic Acids. 2010;2010doi: 10.4061/2010/872180.
Waisertreiger, I. S., Menezes, M. R., Randazzo, J., & Pavlov, Y. I. (2010). Elevated Levels of DNA Strand Breaks Induced by a Base Analog in the Human Cell Line with the P32T ITPA Variant. Journal of nucleic acids, 2010. https://doi.org/10.4061/2010/872180
Waisertreiger, Irina S-R, et al. "Elevated Levels of DNA Strand Breaks Induced by a Base Analog in the Human Cell Line with the P32T ITPA Variant." Journal of nucleic acids vol. 2010 (2010). doi: https://doi.org/10.4061/2010/872180
Waisertreiger IS, Menezes MR, Randazzo J, Pavlov YI. Elevated Levels of DNA Strand Breaks Induced by a Base Analog in the Human Cell Line with the P32T ITPA Variant. J Nucleic Acids. 2010 Sep 26;2010. doi: 10.4061/2010/872180. PMID: 20936128; PMCID: PMC2948936.
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Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders.

Genes

Paz-Filho G, Boguszewski MC, Mastronardi CA, Patel HR, Johar AS, Chuah A, Huttley GA, Boguszewski CL, Wong ML, Arcos-Burgos M, Licinio J.
PMID: 25158045
Genes (Basel). 2014 Aug 25;5(3):709-25. doi: 10.3390/genes5030709.

Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male...

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Paz-Filho G, Boguszewski MC, Mastronardi CA, et al. Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders. Genes (Basel). 2014;5(3):709-25doi: 10.3390/genes5030709.
Paz-Filho, G., Boguszewski, M. C., Mastronardi, C. A., Patel, H. R., Johar, A. S., Chuah, A., Huttley, G. A., Boguszewski, C. L., Wong, M. L., Arcos-Burgos, M., & Licinio, J. (2014). Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders. Genes, 5(3), 709-25. https://doi.org/10.3390/genes5030709
Paz-Filho, Gilberto, et al. "Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders." Genes vol. 5,3 (2014): 709-25. doi: https://doi.org/10.3390/genes5030709
Paz-Filho G, Boguszewski MC, Mastronardi CA, Patel HR, Johar AS, Chuah A, Huttley GA, Boguszewski CL, Wong ML, Arcos-Burgos M, Licinio J. Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders. Genes (Basel). 2014 Aug 25;5(3):709-25. doi: 10.3390/genes5030709. PMID: 25158045; PMCID: PMC4198926.
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Role of genetic polymorphisms in hepatitis C virus chronic infection.

World journal of clinical cases

Coppola N, Pisaturo M, Sagnelli C, Onorato L, Sagnelli E.
PMID: 26380828
World J Clin Cases. 2015 Sep 16;3(9):807-22. doi: 10.12998/wjcc.v3.i9.807.

AIM: To analyze the host genetics factors influencing the clinical course and the response to antiviral treatment in patients with chronic hepatitis C (CHC).METHODS: We conducted an electronic search on the PubMed and MEDLINE (2000-2014) databases and Cochrane library...

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Coppola N, Pisaturo M, Sagnelli C, et al. Role of genetic polymorphisms in hepatitis C virus chronic infection. World J Clin Cases. 2015;3(9):807-22doi: 10.12998/wjcc.v3.i9.807.
Coppola, N., Pisaturo, M., Sagnelli, C., Onorato, L., & Sagnelli, E. (2015). Role of genetic polymorphisms in hepatitis C virus chronic infection. World journal of clinical cases, 3(9), 807-22. https://doi.org/10.12998/wjcc.v3.i9.807
Coppola, Nicola, et al. "Role of genetic polymorphisms in hepatitis C virus chronic infection." World journal of clinical cases vol. 3,9 (2015): 807-22. doi: https://doi.org/10.12998/wjcc.v3.i9.807
Coppola N, Pisaturo M, Sagnelli C, Onorato L, Sagnelli E. Role of genetic polymorphisms in hepatitis C virus chronic infection. World J Clin Cases. 2015 Sep 16;3(9):807-22. doi: 10.12998/wjcc.v3.i9.807. PMID: 26380828; PMCID: PMC4568530.
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Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease.

Experimental and therapeutic medicine

Osaki R, Imaeda H, Ban H, Aomatsu T, Bamba S, Tsujikawa T, Sasaki M, Fujiyama Y, Andoh A.
PMID: 22977575
Exp Ther Med. 2011 Sep;2(5):783-786. doi: 10.3892/etm.2011.287. Epub 2011 Jun 16.

Thiopurine drugs are the most common drugs used to maintain clinical remission in inflammatory bowel disease (IBD). Three single-nucleotide polymorphisms (SNPs), TPMT A719G (rs1142345), inosine triphosphate pyrophosphatase (ITPase) C94A (rs1127354) and multidrug resistance protein 4 MRP4 G2269A (rs3765534), have...

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Osaki R, Imaeda H, Ban H, et al. Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease. Exp Ther Med. 2011;2(5):783-786doi: 10.3892/etm.2011.287.
Osaki, R., Imaeda, H., Ban, H., Aomatsu, T., Bamba, S., Tsujikawa, T., Sasaki, M., Fujiyama, Y., & Andoh, A. (2011). Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease. Experimental and therapeutic medicine, 2(5), 783-786. https://doi.org/10.3892/etm.2011.287
Osaki, Rie, et al. "Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease." Experimental and therapeutic medicine vol. 2,5 (2011): 783-786. doi: https://doi.org/10.3892/etm.2011.287
Osaki R, Imaeda H, Ban H, Aomatsu T, Bamba S, Tsujikawa T, Sasaki M, Fujiyama Y, Andoh A. Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease. Exp Ther Med. 2011 Sep;2(5):783-786. doi: 10.3892/etm.2011.287. Epub 2011 Jun 16. PMID: 22977575; PMCID: PMC3440725.
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An index to predict ribavirin-induced anemia in asian patients with chronic genotype 1 hepatitis C.

Hepatitis monthly

Chen SH, Peng CY, Lai HC, Su WP, Lin CH, Li YF, Chuang PH, Chen CH.
PMID: 25834588
Hepat Mon. 2015 Mar 20;15(3):e27148. doi: 10.5812/hepatmon.27148. eCollection 2015 Mar.

BACKGROUND: Single-nucleotide polymorphisms (SNP) in the inosine triphosphate pyrophosphatase (ITPA) gene correlate with ribavirin (RBV)-induced anemia in patients with chronic hepatitis C (CHC) receiving combination therapy. Managing anemia is an early priority in the treatment process.OBJECTIVES: The aim was...

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Chen SH, Peng CY, Lai HC, et al. An index to predict ribavirin-induced anemia in asian patients with chronic genotype 1 hepatitis C. Hepat Mon. 2015;15(3):e27148doi: 10.5812/hepatmon.27148.
Chen, S. H., Peng, C. Y., Lai, H. C., Su, W. P., Lin, C. H., Li, Y. F., Chuang, P. H., & Chen, C. H. (2015). An index to predict ribavirin-induced anemia in asian patients with chronic genotype 1 hepatitis C. Hepatitis monthly, 15(3), e27148. https://doi.org/10.5812/hepatmon.27148
Chen, Sheng-Hung, et al. "An index to predict ribavirin-induced anemia in asian patients with chronic genotype 1 hepatitis C." Hepatitis monthly vol. 15,3 (2015): e27148. doi: https://doi.org/10.5812/hepatmon.27148
Chen SH, Peng CY, Lai HC, Su WP, Lin CH, Li YF, Chuang PH, Chen CH. An index to predict ribavirin-induced anemia in asian patients with chronic genotype 1 hepatitis C. Hepat Mon. 2015 Mar 20;15(3):e27148. doi: 10.5812/hepatmon.27148. eCollection 2015 Mar. PMID: 25834588; PMCID: PMC4377223.
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Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype.

Hepatology research : the official journal of the Japan Society of Hepatology

Motomura T, Koga E, Taketomi A, Fukuhara T, Mano Y, Muto J, Konishi H, Toshima T, Uchiyama H, Yoshizumi T, Shirabe K, Maehara Y.
PMID: 22181672
Hepatol Res. 2012 Mar;42(3):288-95. doi: 10.1111/j.1872-034X.2011.00927.x. Epub 2011 Dec 19.

AIM:   A genetic polymorphism of inosine triphosphate pyrophosphatase (ITPA) has been associated with pegylated-interferon/ribavirin (PEG-IFN/RBV)-induced anemia in chronic hepatitis C patients. However, correlation of the genetic variant with anemia following liver transplantation has not been determined.METHODS:   Sixty-three hepatitis C...

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Motomura T, Koga E, Taketomi A, et al. Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype. Hepatol Res. 2011;42(3):288-95doi: 10.1111/j.1872-034X.2011.00927.x.
Motomura, T., Koga, E., Taketomi, A., Fukuhara, T., Mano, Y., Muto, J., Konishi, H., Toshima, T., Uchiyama, H., Yoshizumi, T., Shirabe, K., & Maehara, Y. (2012). Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype. Hepatology research : the official journal of the Japan Society of Hepatology, 42(3), 288-95. https://doi.org/10.1111/j.1872-034X.2011.00927.x
Motomura, Takashi, et al. "Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype." Hepatology research : the official journal of the Japan Society of Hepatology vol. 42,3 (2012): 288-95. doi: https://doi.org/10.1111/j.1872-034X.2011.00927.x
Motomura T, Koga E, Taketomi A, Fukuhara T, Mano Y, Muto J, Konishi H, Toshima T, Uchiyama H, Yoshizumi T, Shirabe K, Maehara Y. Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype. Hepatol Res. 2012 Mar;42(3):288-95. doi: 10.1111/j.1872-034X.2011.00927.x. Epub 2011 Dec 19. PMID: 22181672.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

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.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analysing...

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Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., 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, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
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. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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Occupational exposure to metal-rich particulate matter modifies the expression of repair genes in foundry workers.

Toxicology and industrial health

Panjali Z, Hahad O, Rajabi F, Maddah S, Zendehdel R.
PMID: 34247554
Toxicol Ind Health. 2021 Aug;37(8):504-512. doi: 10.1177/07482337211021202. Epub 2021 Jul 12.

Foundry workers are exposed to numerous occupational health hazards, which may result in increased risk of cancer, respiratory disease, and other diseases. Oxidative stress is known to be involved in the pathogenesis of such diseases. The present study aimed...

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Panjali Z, Hahad O, Rajabi F, et al. Occupational exposure to metal-rich particulate matter modifies the expression of repair genes in foundry workers. Toxicol Ind Health. 2021;37(8):504-512doi: 10.1177/07482337211021202.
Panjali, Z., Hahad, O., Rajabi, F., Maddah, S., & Zendehdel, R. (2021). Occupational exposure to metal-rich particulate matter modifies the expression of repair genes in foundry workers. Toxicology and industrial health, 37(8), 504-512. https://doi.org/10.1177/07482337211021202
Panjali, Zahra, et al. "Occupational exposure to metal-rich particulate matter modifies the expression of repair genes in foundry workers." Toxicology and industrial health vol. 37,8 (2021): 504-512. doi: https://doi.org/10.1177/07482337211021202
Panjali Z, Hahad O, Rajabi F, Maddah S, Zendehdel R. Occupational exposure to metal-rich particulate matter modifies the expression of repair genes in foundry workers. Toxicol Ind Health. 2021 Aug;37(8):504-512. doi: 10.1177/07482337211021202. Epub 2021 Jul 12. PMID: 34247554.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

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.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing...

Cite
Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., 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, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
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. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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