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Select item 91240941.

The Overexpression of SLC25A13 Predicts Poor Prognosis and Is Correlated with Immune Cell Infiltration in Patients with Skin Cutaneous Melanoma

Yue lv, Chun-hui Yuan, Lu-yao Han, Gao-ru Huang, Ling-ce Ju, Ling-hui Chen, Hai-ying Han, Chong Zhang, Ling-hui Zeng

Dis Markers. 2022; 2022: 4091978. Published online 2022 May 14. doi: 10.1155/2022/4091978

PMCID:: PMC9124094

Abstract Article PDF–4.4M

Select item 74658902.

AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures

Takeyori Saheki, Mitsuaki Moriyama, Aki Funahashi, Eishi Kuroda

Biomolecules. 2020 Aug; 10(8): 1100. Published online 2020 Jul 24. doi: 10.3390/biom10081100

PMCID:: PMC7465890

Abstract Article PDF–3.7M

Select item 54763443.

Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients

Chun-Ting Lu, Qi-Ping Shi, Ze-Jian Li, Jiong Li, Lie Feng

Exp Biol Med (Maywood) 2017 Jun; 242(12): 1271–1278. Published online 2017 May 18. doi: 10.1177/1535370217710918

PMCID:: PMC5476344

Abstract Article PDF–130K

Select item 49426054.

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

Wei-Xia Lin, Han-Shi Zeng, Zhan-Hui Zhang, Man Mao, Qi-Qi Zheng, Shu-Tao Zhao, Ying Cheng, Feng-Ping Chen, Wang-Rong Wen, Yuan-Zong Song

Sci Rep. 2016; 6: 29732. Published online 2016 Jul 11. doi: 10.1038/srep29732

PMCID:: PMC4942605

Abstract Article PDF–1.3M

Select item 48356175.

Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study

Qi-Qi Zheng, Zhan-Hui Zhang, Han-Shi Zeng, Wei-Xia Lin, Heng-Wen Yang, Zhi-Nan Yin, Yuan-Zong Song

Biomed Res Int. 2016; 2016: 4124263. Published online 2016 Apr 5. doi: 10.1155/2016/4124263

PMCID:: PMC4835617

Abstract Article PDF–289K

Select item 38372736.

Screening of SLC25A13 mutation in the Thai population

Parith Wongkittichote, Chonlaphat Sukasem, Atsuo Kikuchi, Wichai Aekplakorn, Laran T Jensen, Shigeo Kure, Duangrurdee Wattanasirichaigoon

World J Gastroenterol. 2013 Nov 21; 19(43): 7735–7742. Published online 2013 Nov 21. doi: 10.3748/wjg.v19.i43.7735

PMCID:: PMC3837273

Abstract Article PDF–1.3M

Select item 37779977.

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki

PLoS One. 2013; 8(9): e74544. Published online 2013 Sep 19. doi: 10.1371/journal.pone.0074544

PMCID:: PMC3777997

Abstract Article PDF–2.0M

Select item 37253808.

Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis

Rui Chen, Xiao-Hong Wang, Hai-Yan Fu, Shao-Ren Zhang, Kuerbanjiang Abudouxikuer, Takeyori Saheki, Jian-She Wang

World J Gastroenterol. 2013 Jul 28; 19(28): 4545–4551. Published online 2013 Jul 28. doi: 10.3748/wjg.v19.i28.4545

PMCID:: PMC3725380

Abstract Article PDF–1.2M

Select item 34832069.

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants

Suporn Treepongkaruna, Suttiruk Jitraruch, Porawee Kodcharin, Dussadee Charoenpipop, Pim Suwannarat, Paneeya Pienvichit, Keiko Kobayashi, Duangrurdee Wattanasirichaigoon

BMC Gastroenterol. 2012; 12: 141. Published online 2012 Oct 15. doi: 10.1186/1471-230X-12-141

PMCID:: PMC3483206

Abstract Article PDF–389K

Select item 286822210.

Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis

Hai-Yan Fu, Shao-Ren Zhang, Hui Yu, Xiao-Hong Wang, Qi-Rong Zhu, Jian-She Wang

World J Gastroenterol. 2010 May 14; 16(18): 2278–2282. Published online 2010 May 14. doi: 10.3748/wjg.v16.i18.2278

PMCID:: PMC2868222

Abstract Article PDF–817K

Select item 175718811.

A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene

W. Hwu, K. Kobayashi, Y. Hu, N. Yamaguchi, T. Saheki, S. Chou, J. Wang

J Med Genet. 2001 Jul; 38(7): e23. doi: 10.1136/jmg.38.7.e23

PMCID:: PMC1757188

Summary PDF–75K

Select item 514144412.

Metabolic Adaptation to Nutritional Stress in Human Colorectal Cancer

Masaaki Miyo, Masamitsu Konno, Naohiro Nishida, Toshinori Sueda, Kozo Noguchi, Hidetoshi Matsui, Hugh Colvin, Koichi Kawamoto, Jun Koseki, Naotsugu Haraguchi, Junichi Nishimura, Taishi Hata, Noriko Gotoh, Fumio Matsuda, Taroh Satoh, Tsunekazu Mizushima, Hiroshi Shimizu, Yuichiro Doki, Masaki Mori, Hideshi Ishii

Sci Rep. 2016; 6: 38415. Published online 2016 Dec 7. doi: 10.1038/srep38415

PMCID:: PMC5141444

Abstract Article PDF–2.0M

Select item 1009498513.

NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

Melissa Owusu-Ansah, Nikita Guptan, Dylon Alindogan, Michio Morizono, Ljubica Caldovic

Int J Mol Sci. 2023 Apr; 24(7): 6754. Published online 2023 Apr 4. doi: 10.3390/ijms24076754

PMCID:: PMC10094985

Abstract Article PDF–4.5M

Select item 651546914.

Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 (SLC25A13): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells

Paolo Convertini, Simona Todisco, Francesco De Santis, Ilaria Pappalardo, Dominga Iacobazzi, Maria Antonietta Castiglione Morelli, Yvonne N. Fondufe-Mittendorf, Giuseppe Martelli, Ferdinando Palmieri, Vittoria Infantino

Int J Mol Sci. 2019 Apr; 20(8): 1888. Published online 2019 Apr 16. doi: 10.3390/ijms20081888

PMCID:: PMC6515469

Abstract Article PDF–1.7M

Select item 122081015.

Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.

A Del Arco, M Agudo, J Satrústegui

Biochem J. 2000 Feb 1; 345(Pt 3): 725–732. doi: 10.1042/0264-6021:3450725

PMCID:: PMC1220810

Summary PDF–379K

Select item 425052016.

Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers

Chancievan Thangaratnarajah, Jonathan J. Ruprecht, Edmund R. S. Kunji

Nat Commun. 2014 Nov 20; 5: 5491. Published online 2014 Nov 20. doi: 10.1038/ncomms6491

PMCID:: PMC4250520

Abstract Article PDF–2.8M

Select item 12562617.

Citrin and aralar1 are Ca²⁺-stimulated aspartate/glutamate transporters in mitochondria

L. Palmieri, B. Pardo, F.M. Lasorsa, A. del Arco, K. Kobayashi, M. Iijima, M.J. Runswick, J.E. Walker, T. Saheki, J. Satrústegui, F. Palmieri

EMBO J. 2001 Sep 17; 20(18): 5060–5069. doi: 10.1093/emboj/20.18.5060

PMCID:: PMC125626

Abstract Article PDF–304K

Select item 293473918.

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

E Maestrini, A T Pagnamenta, J A Lamb, E Bacchelli, N H Sykes, I Sousa, C Toma, G Barnby, H Butler, L Winchester, T S Scerri, F Minopoli, J Reichert, G Cai, J D Buxbaum, O Korvatska, G D Schellenberg, G Dawson, A de Bildt, R B Minderaa, E J Mulder, A P Morris, A J Bailey, A P Monaco, IMGSAC

Mol Psychiatry. 2010 Sep; 15(9): 954–968. Published online 2009 Apr 28. doi: 10.1038/mp.2009.34

PMCID:: PMC2934739

Abstract Article PDF–376K

Select item 500801019.

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence

Romina Burla, Mariateresa Carcuro, Mattia La Torre, Federica Fratini, Marco Crescenzi, Maria Rosaria D'Apice, Paola Spitalieri, Grazia Daniela Raffa, Letizia Astrologo, Giovanna Lattanzi, Enrico Cundari, Domenico Raimondo, Annamaria Biroccio, Maurizio Gatti, Isabella Saggio

Open Biol. 2016 Aug; 6(8): 160103. Published online 2016 Aug 10. doi: 10.1098/rsob.160103