| 1 | ASS1, CTLN1
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| Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
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| Kimani JK, Wei T, Chol K, Li Y, Yu P, Ye S, Huang X, Qi M.
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| Clin Chim Acta lin Chim Acta. 2014 Aug 30. pii: S0009-8981(14)00380-5. doi: 10.1016/j.cca.2014.08.028. [Epub ahead of print]
2014
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| 2 | ASS1
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| Arginine starvation impairs mitochondrial respiratory function in ASS1-deficient breast cancer cells.
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| Qiu F, Chen YR, Liu X, Chu CY, Shen LJ, Xu J, Gaur S, Forman HJ, Zhang H, Zheng S, Yen Y, Huang J, Kung HJ, Ann DK.
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| Sci Signal 7(319):ra31. doi: 10.1126/scisignal.2004761.
2014
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| 3 | ASS1
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| Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria.
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| Li L, Jin C, Ye L, Shao G, Wang L, Lin M.
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| Clin Biochem 46(18):1793-7. doi: 10.1016/j.clinbiochem.2013.10.028. Epub 2013 Nov 2.
2013
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| 4 | ASS1
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| ASS1 as a novel tumor suppressor gene in myxofibrosarcomas: aberrant loss via epigenetic DNA methylation confers aggressive phenotypes, negative prognostic impact, and therapeutic relevance.
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| Huang HY, Wu WR, Wang YH, Wang JW, Fang FM, Tsai JW, Li SH, Hung HC, Yu SC, Lan J, Shiue YL, Hsing CH, Chen LT, Li CF.
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| Clin Cancer Res 19(11):2861-72. doi: 10.1158/1078-0432.CCR-12-2641. Epub 2013 Apr 2.
2013
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| 5 | ASS1, KLF4
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| A regulatory role of Kruppel-like factor 4 in endothelial argininosuccinate synthetase 1 expression in response to laminar shear stress.
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| Mun GI, Boo YC.
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| Biochem Biophys Res Commun 420(2):450-5. doi: 10.1016/j.bbrc.2012.03.016. Epub 2012 Mar 10.
2012
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| 6 | ASS1
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| Endothelial argininosuccinate synthetase 1 regulates nitric oxide production and monocyte adhesion under static and laminar shear stress conditions.
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| Mun GI, Kim IS, Lee BH, Boo YC.
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| J Biol Chem 286(4):2536-42. doi: 10.1074/jbc.M110.180489. Epub 2010 Nov 24.
2011
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| 7 | ASS1
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| Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
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| Perez CJ, Jaubert J, Guénet JL, Barnhart KF, Ross-Inta CM, Quintanilla VC, Aubin I, Brandon JL, Otto NW, DiGiovanni J, Gimenez-Conti I, Giulivi C, Kusewitt DF, Conti CJ, Benavides F.
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| Am J Pathol 177(4):1958-68. doi: 10.2353/ajpath.2010.100118. Epub 2010 Aug 19.
2010
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| 8 | ASS1, CTLN1
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| Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
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| Engel K, Höhne W, Häberle J.
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| Hum Mutat 30(3):300-7. Review.
2009
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| 9 | ASS1
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| Identification of a liver-specific cAMP response element in the human argininosuccinate synthetase gene.
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| Guei TR, Liu MC, Yang CP, Su TS.
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| Biochem Biophys Res Commun 377(1):257-61. Epub 2008 Oct 7.
2008
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| 10 | ASS1, CTLN1
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| Involvement of c-myc-regulated genes in hepatocellular carcinoma related to genotype-C hepatitis B virus.
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| Iizuka N, Tsunedomi R, Tamesa T, Okada T, Sakamoto K, Hamaguchi T, Yamada-Okabe H, Miyamoto T, Uchimura S, Hamamoto Y, Oka M.
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| J Cancer Res Clin Oncol 132(7):473-81. Epub 2006 Apr 25. 2006
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| 11 | ASS1, CTLN1
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| Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
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| Wasant P, Viprakasit V, Srisomsap C, Liammongkolkul S, Ratanarak P, Sathienkijakanchai A, Svasti J.
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| Southeast Asian J Trop Med Public Health 36(3):757-61. 2005
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| 12 | ASS1, CTLN1
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| Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
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| Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodes M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T.
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| Hum Mutat 22(1):24-34. 2003
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| 13 | ASS1, CTLN1
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| Glutamine stimulates argininosuccinate synthetase gene expression through cytosolic O-glycosylation of Sp1 in Caco-2 cells.
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| Brasse-Lagnel C, Fairand A, Lavoinne A, Husson A.
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| J Biol Chem 278(52):52504-10. Epub 2003 Oct 21. 2003
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| 14 | ASS1
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| Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
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| Haberle J, Pauli S, Linnebank M, Kleijer WJ, Bakker HD, Wanders RJ, Harms E, Koch HG.
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| Hum Genet 110(4):327-33. 2002
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| 15 | ASS1, CTLN1
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| The human argininosuccinate synthetase locus and citrullinemia.
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| Beaudet AL, et al.
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| Adv Hum Genet 15 : 161-192 and 291-292. 1986
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