Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 34 Records) |
Query Trace: AGXT[original query] |
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Genes related to the metabolism of nutrients in the Kola Sami population. International journal of circumpolar health 2008 Feb 67 (1): 56-66. Kozlov Andrew, Borinskaya Svetlana, Vershubsky Galina, Vasilyev Eugeny, Popov Vasily, Sokolova Maria, Sanina Ekaterina, Kaljina Nina, Rebrikov Dmitry, Lisitsyn Dmitry, Yankovsky Nikol |
Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis. American journal of kidney diseases : the official journal of the National Kidney Foundation 2008 Dec 52 (6): 1096-103. Monico Carla G, Weinstein Adam, Jiang Zhirong, Rohlinger Audrey L, Cogal Andrea G, Bjornson Beth B, Olson Julie B, Bergstralh Eric J, Milliner Dawn S, Aronson Peter |
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney international 2010 Mar 77 (5): 443-9. Harambat Jérôme, Fargue Sonia, Acquaviva Cécile, Gagnadoux Marie-France, Janssen Françoise, Liutkus Aurélia, Mourani Chebl, Macher Marie-Alice, Abramowicz Daniel, Legendre Christophe, Durrbach Antoine, Tsimaratos Michel, Nivet Hubert, Girardin Eric, Schott Anne-Marie, Rolland Marie-Odile, Cochat Pier |
Associations between glutathione S-transferase pi Ile105Val and glyoxylate aminotransferase Pro11Leu and Ile340Met polymorphisms and early-onset oxaliplatin-induced neuropathy. Cancer epidemiology 2010 Apr 34 (2): 189-93. Kanai Masashi, Yoshioka Akira, Tanaka Shiro, Nagayama Satoshi, Matsumoto Shigemi, Nishimura Takafumi, Niimi Miyuki, Teramukai Satoshi, Takahashi Ryo, Mori Yukiko, Kitano Toshiyuki, Ishiguro Hiroshi, Yanagihara Kazuhiro, Chiba Tsutomu, Fukushima Masanori, Matsuda Fumihi |
A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen. The pharmacogenomics journal 2013 Oct 13 (5): 403-9. Cecchin E, D'Andrea M, Lonardi S, Zanusso C, Pella N, Errante D, De Mattia E, Polesel J, Innocenti F, Toffoli |
Pharmacogenetic analysis of adjuvant FOLFOX for Korean patients with colon cancer. Cancer chemotherapy and pharmacology 2013 Jan . Lee KH, Chang HJ, Han SW, Oh DY, Im SA, Bang YJ, Kim SY, Lee KW, Kim JH, Hong YS, Kim TW, Park YS, Kang WK, Shin SJ, Ahn JB, Kang GH, Jeong SY, Park KJ, Park JG, Kim TY |
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney international 2014 Dec 86 (6): 1197-204. Mandrile Giorgia, van Woerden Christiaan S, Berchialla Paola, Beck Bodo B, Acquaviva Bourdain Cécile, Hulton Sally-Anne, Rumsby Gill, |
Somatic mutations of amino acid metabolism-related genes in gastric and colorectal cancers and their regional heterogeneity--a short report. Cellular oncology (Dordrecht) 2014 Dec 37 (6): 455-61. Oh Hye Rim, An Chang Hyeok, Yoo Nam Jin, Lee Sug Hyu |
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population. Genetic testing and molecular biomarkers 2015 Sep . Boualla Lamiae, Tajir Mariam, Oulahiane Najat, Lyahyai Jaber, Laarabi Fatima Zahra, Chafai Elalaoui Siham, Soulami Kenza, Ait Ouamar Hassan, Sefiani Abdelaz |
Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.
PLoS genetics 2015 Sep 11 (9): e1005487. Raffler Johannes, Friedrich Nele, Arnold Matthias, Kacprowski Tim, Rueedi Rico, Altmaier Elisabeth, Bergmann Sven, Budde Kathrin, Gieger Christian, Homuth Georg, Pietzner Maik, Römisch-Margl Werner, Strauch Konstantin, Völzke Henry, Waldenberger Melanie, Wallaschofski Henri, Nauck Matthias, Völker Uwe, Kastenmüller Gabi, Suhre Karst |
AGXT and ERCC2 polymorphisms are associated with clinical outcome in metastatic colorectal cancer patients treated with 5-FU/oxaliplatin. The pharmacogenomics journal 2015 Aug . Kjersem J B, Thomsen M, Guren T, Hamfjord J, Carlsson G, Gustavsson B, Ikdahl T, Indrebø G, Pfeiffer P, Lingjærde O, Tveit K M, Wettergren Y, Kure E |
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. Journal of the American Society of Nephrology : JASN 2015 Feb . Hopp Katharina, Cogal Andrea G, Bergstralh Eric J, Seide Barbara M, Olson Julie B, Meek Alicia M, Lieske John C, Milliner Dawn S, Harris Peter C, |
Genetic variations in the alanine-glyoxylate aminotransferase 2 (AGXT2) gene and dimethylarginines levels in rheumatoid arthritis. Amino acids 2017 Mar . Dimitroulas Theodoros, Hodson James, Panoulas Vasileios F, Sandoo Aamer, Smith Jacqueline, Kitas Geor |
Genetic polymorphisms in cyclin H gene are associated with oxaliplatin-induced acute peripheral neuropathy in South Indian digestive tract cancer patients. Cancer chemotherapy and pharmacology 2018 Jun . Palugulla Sreenivasulu, Devaraju Panneer, Kayal Smita, Narayan Sunil K, Mathaiyan Jayant |
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones. World journal of urology 2018 11 37 (8): 1713-1721. He Lei, Xu Guofeng, Fang Xiaoliang, Lin Houwei, Xu Maosheng, Yu Yongguo, Geng Hongqu |
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. Current medical science 2018 10 38 (5): 749-757. Du Dun-Feng, Li Qian-Qian, Chen Chen, Shi Shu-Mei, Zhao Yuan-Yuan, Jiang Ji-Pin, Wang Dao-Wen, Guo Hui, Zhang Wei-Jie, Chen Zhi-Sh |
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations. Urolithiasis 2020 6 49 (1): 17-25. Zhao Fangzhou, Li Jun, Tang Lei, Li Chunming, Wang Wenying, Ning Ch |
Etiological Profile of Nephrocalcinosis in Children from Southern India. Indian pediatrics 2020 3 57 (5): 415-419. Ramya Kagnur, Krishnamurthy Sriram, Sivamurukan Palanisa |
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1. BMC medical genomics 2021 6 14 (1): 146. Murad Hossam, Alhalabi Mohamad Baseel, Dabboul Amir, Alfakseh Nour, Nweder Mohamad Sayah, Zghib Youssef, Wannous Ha |
Nephrocalcinosis: An interesting case. The National medical journal of India 2021 5 33 (4): 205-206. Subramanian Srinithya Vathi, Arul , Jegan , Prasad Ar |
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome. BMC nephrology 2021 3 22 (1): 83. Xu Chang Bao, Zhou Xu Dong, Xu Hong En, Zhao Yong Li, Zhao Xing Hua, Liu Dan Hua, Tian Yong An, Hu Xin Xin, Guan Jing Yuan, Guo Jian Cheng, Tang Wen Xue, Xue X |
Pharmacogenetics of advanced lung cancer: Predictive value of functional genetic polymorphism AGXT Pro11Leu in clinical outcome? Pulmonology 2021 Jan . Catarata Maria Joana, Lourenço Margarida, Martins Maria Fátima, Frade João, Pêgo Alice, Cordeiro Carlos Robalo, Medeiros Rui, Ribeiro Ricar |
Metabolic and Genetic Evaluation in Children with Nephrolithiasis. Indian journal of pediatrics 2022 Jul . Mandal Anita, Khandelwal Priyanka, Geetha Thenral S, Murugan Sakthivel, Meena Jitendra, Jana Manisha, Sinha Aditi, Kumar Rajeev, Seth Amlesh, Hari Pankaj, Bagga Arvi |
Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis. Cureus 2022 5 14 (3): e23616. Fatima Abdouss, Mohamed Ahakoud, Moustapha Hida, Karim Ould |
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Molecular genetics and genomics : MGG 2022 May . Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaow |
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants. Clinical genetics 2022 10 103 (1): 53-66. Abid Aiysha, Raza Ali, Khan Abdul Rafay, Firasat Sadaf, Shahid Saba, Hashmi Seema, Zafar Mirza Naqi, Sultan Sajid, Khaliq Shagufta, Rizvi Syed Adib-Ul-Has |
Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery. Scientific reports 2023 6 13 (1): 9029. Lotte Scherer, Ria Schönauer, Melanie Nemitz-Kliemchen, Tobias Hagemann, Elena Hantmann, Jonathan de Fallois, Friederike Petzold, Matthias Blüher, Jan Halbritt |
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients. Pediatric nephrology (Berlin, Germany) 2023 6 . Yukun Liu, Yucheng Ge, Ruichao Zhan, Zhenqiang Zhao, Jun Li, Wenying Wa |
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium. Kidney international reports 2023 10 8 (10): 2029-2042. Elisabeth L Metry, Sander F Garrelfs, Lisa J Deesker, Cecile Acquaviva, Viola D'Ambrosio, Justine Bacchetta, Bodo B Beck, Pierre Cochat, Laure Collard, Julien Hogan, Pietro Manuel Ferraro, Casper F M Franssen, Jérôme Harambat, Sally-Anne Hulton, Graham W Lipkin, Giorgia Mandrile, Cristina Martin-Higueras, Nilufar Mohebbi, Shabbir H Moochhala, Thomas J Neuhaus, Larisa Prikhodina, Eduardo Salido, Rezan Topaloglu, Michiel J S Oosterveld, Jaap W Groothoff, Hessel Peters-Senge |
Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India. Frontiers in molecular biosciences 2023 1 9 1049620. Chatterjee Arindam, Sarkar Kunal, Bank Sarbashri, Ghosh Sudakshina, Kumar Pal Dilip, Saraf Siddharth, Wakle Dhansagar, Roy Bidyut, Chakraborty Santanu, Bankura Biswabandhu, Chattopadhyay Debprasad, Das Madhusud |
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- Page last updated:Apr 22, 2024
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