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Select item 106463191.

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Katherine Lord, Diva D. De Leon, Nadia Merchant, Rebecca Ganetzky

Front Endocrinol (Lausanne) 2023; 14: 1268135. Published online 2023 Nov 1. doi: 10.3389/fendo.2023.1268135

PMCID:: PMC10646319

Abstract Article PDF–641K

Select item 73890752.

线粒体DNA耗竭综合征1例临床特点和DGUOK基因突变分析

邓梅, 林伟霞, 郭丽, 张占会, 宋元宗

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Jun 15; 18(6): 545–550. Chinese. doi: 10.7499/j.issn.1008-8830.2016.06.015

PMCID:: PMC7389075

Abstract Article PDF–2.5M

Select item 48748723.

Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension

Sílvia Vilarinho, Sinan Sari, Güldal Yilmaz, Amy L. Stiegler, Titus J. Boggon, Dhanpat Jain, Gulen Akyol, Buket Dalgic, Murat Günel, Richard P. Lifton

Hepatology. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Hepatology. 2016 Jun; 63(6): 1977–1986. Published online 2016 Mar 31. doi: 10.1002/hep.28499

PMCID:: PMC4874872

Abstract Article PDF–822K

Select item 35019754.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Dario Ronchi, Caterina Garone, Andreina Bordoni, Purificacion Gutierrez Rios, Sarah E. Calvo, Michela Ripolone, Michela Ranieri, Mafalda Rizzuti, Luisa Villa, Francesca Magri, Stefania Corti, Nereo Bresolin, Vamsi K. Mootha, Maurizio Moggio, Salvatore DiMauro, Giacomo P. Comi, Monica Sciacco

Brain. 2012 Nov; 135(11): 3404–3415. Published online 2012 Oct 4. doi: 10.1093/brain/aws258

PMCID:: PMC3501975

Abstract Article PDF–979K

Select item 30266845.

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Maciej Pronicki, Tamara Szymańska-Dębińska, Agnieszka Karkucińska-Więckowska, Joanna Jakóbkiewicz-Banecka, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Magdalena Pajdowska, Piotr Socha, Jolanta Sykut-Cegielska, Grzegorz Węgrzyn

J Appl Genet. 2011; 52(1): 61–66. Published online 2010 Nov 16. doi: 10.1007/s13353-010-0008-y

PMCID:: PMC3026684

Abstract Article PDF–142K

Select item 18913336.

Integrated analysis of experimental data sets reveals many novel promoters in 1% of the human genome

Nathan D. Trinklein, Ulaş Karaöz, Jiaqian Wu, Anason Halees, Shelley Force Aldred, Patrick J. Collins, Deyou Zheng, Zhengdong D. Zhang, Mark B. Gerstein, Michael Snyder, Richard M. Myers, Zhiping Weng

Genome Res. 2007 Jun; 17(6): 720–731. doi: 10.1101/gr.5716607

PMCID:: PMC1891333

Abstract Article PDF–884K

Select item 17984367.

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

Bénédicte Mousson de camaret, Jan-Willem Taanman, Sylvie Padet, Maïté Chassagne, Martine Mayençon, Pascale Clerc-Renaud, Ginette Mandon, Marie-Thérèse Zabot, Alain Lachaux, Dominique Bozon

Biochem J. 2007 Mar 1; 402(Pt 2): 377–385. Prepublished online 2006 Oct 31. Published online 2007 Feb 12. doi: 10.1042/BJ20060705

PMCID:: PMC1798436

Abstract Article PDF–195K

Select item 50470588.

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome

Brian Bennett, Daniel Helbling, Hui Meng, Jason Jarzembowski, Aron M. Geurts, Marisa W. Friederich, Johan L. K. Van Hove, Michael W. Lawlor, David P. Dimmock

Free Radic Biol Med. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Free Radic Biol Med. 2016 Mar; 92: 141–151. Published online 2016 Jan 8. doi: 10.1016/j.freeradbiomed.2016.01.001

PMCID:: PMC5047058

Abstract Article PDF–1.2M

Select item 32029599.

Genome-Wide Association Scan for Survival on Dialysis in African-Americans with Type 2 Diabetes

Mariana Murea, Lingyi Lu, Lijun Ma, Pamela J. Hicks, Jasmin Divers, Caitrin W. McDonough, Carl D. Langefeld, Donald W. Bowden, Barry I. Freedman

Am J Nephrol. 2011 Jun; 33(6): 502–509. Published online 2011 May 5. doi: 10.1159/000327985

PMCID:: PMC3202959

Abstract Article PDF–425K

Select item 301760210.

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

Wenyi Wang, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin, Curtis Palm, Rita Horvath, Thomas Klopstock, David Cutler, Lynn Pique, Iris Schrijver, Ronald W. Davis, Michael Mindrinos, Terence P. Speed, Curt Scharfe

Nucleic Acids Res. 2011 Jan; 39(1): 44–58. Published online 2010 Sep 15. doi: 10.1093/nar/gkq750

PMCID:: PMC3017602

Abstract Article PDF–1.4M

Select item 354247011.

Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians

Wanling Yang, Huayang Tang, Yan Zhang, Xianfa Tang, Jing Zhang, Liangdan Sun, Jing Yang, Yong Cui, Lu Zhang, Nattiya Hirankarn, Hui Cheng, Hai-Feng Pan, Jinping Gao, Tsz Leung Lee, Yujun Sheng, Chak Sing Lau, Yang Li, Tak Mao Chan, Xianyong Yin, Dingge Ying, Qianjin Lu, Alexander Moon Ho Leung, Xianbo Zuo, Xiang Chen, Kwok Lung Tong, Fusheng Zhou, Qingchun Diao, Niko Kei Chiu Tse, Hongfu Xie, Chi Chiu Mok, Fei Hao, Sik Nin Wong, Bingjun Shi, Ka Wing Lee, Yan Hui, Marco Hok Kung Ho, Bo Liang, Pamela Pui Wah Lee, Hongzhou Cui, Qing Guo, Brian Hon-Yin Chung, Xiongming Pu, Qiji Liu, Xiaoguang Zhang, Change Zhang, Chun Yin Chong, Hong Fang, Raymond Woon Sing Wong, Yonghu Sun, Mo Yin Mok, Xiang-Pei Li, Yingyos Avihingsanon, Zhifang Zhai, Pornpimol Rianthavorn, Thavatchai Deekajorndej, Kanya Suphapeetiporn, Fei Gao, Vorasuk Shotelersuk, Xiaojing Kang, Shirley King Yee Ying, Lijuan Zhang, Wilfred Hing Sang Wong, Dingxian Zhu, Samuel Ka Shun Fung, Fanqin Zeng, Wai Ming Lai, Chun-Ming Wong, Irene Oi Lin Ng, Maria-Mercè Garcia-Barceló, Stacey S. Cherny, Nan Shen, Paul Kwong-Hang Tam, Pak Chung Sham, Dong-Qing Ye, Sen Yang, Xuejun Zhang, Yu Lung Lau

Am J Hum Genet. 2013 Jan 10; 92(1): 41–51. doi: 10.1016/j.ajhg.2012.11.018

PMCID:: PMC3542470

Abstract Article PDF–1.1M

Select item 31108612.

Identification and Characterization of the Potential Promoter Regions of 1031 Kinds of Human Genes

Yutaka Suzuki, Tatsuhiko Tsunoda, Jun Sese, Hirotoshi Taira, Junko Mizushima-Sugano, Hiroko Hata, Toshio Ota, Takao Isogai, Toshihiro Tanaka, Yusuke Nakamura, Akira Suyama, Yoshiyuki Sakaki, Shinichi Morishita, Kousaku Okubo, Sumio Sugano

Genome Res. 2001 May; 11(5): 677–684. doi: 10.1101/gr.164001

PMCID:: PMC311086

Abstract Article PDF–581K

Select item 3897013.

Cloning and expression of human deoxyguanosine kinase cDNA.

M Johansson, A Karlsson

Proc Natl Acad Sci U S A. 1996 Jul 9; 93(14): 7258–7262. doi: 10.1073/pnas.93.14.7258

PMCID:: PMC38970

Summary Page Browse PDF–1.4M

Select item 910630314.

Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors

Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen

Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638

PMCID:: PMC9106303

Abstract Article PDF–918K

Select item 406471815.

Charting the Landscape of Tandem BRCT Domain-Mediated Protein Interactions

Nicholas T. Woods, Rafael D. Mesquita, Michael Sweet, Marcelo A. Carvalho, Xueli Li, Yun Liu, Huey Nguyen, C. Eric Thomas, Edwin S. Iversen, Jr., Sylvia Marsillac, Rachel Karchin, John Koomen, Alvaro N.A. Monteiro

Sci Signal. Author manuscript; available in PMC 2014 Jun 20.

Published in final edited form as: Sci Signal. 2012; 5(242): rs6. Published online 2012 Sep 18. doi: 10.1126/scisignal.2002255

PMCID:: PMC4064718

Abstract Article PDF–2.1M

Select item 488219016.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 683185117.

Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis

Mohamed Taha Moutaoufik, Ramy Malty, Shahreen Amin, Qingzhou Zhang, Sadhna Phanse, Alla Gagarinova, Mara Zilocchi, Larissa Hoell, Zoran Minic, Maria Gagarinova, Hiroyuki Aoki, Jocelyn Stockwell, Matthew Jessulat, Florian Goebels, Kirsten Broderick, Nichollas E. Scott, James Vlasblom, Gabriel Musso, Bhanu Prasad, Eleonora Lamantea, Barbara Garavaglia, Alex Rajput, Kei Murayama, Yasushi Okazaki, Leonard J. Foster, Gary D. Bader, Francisco S. Cayabyab, Mohan Babu

iScience. 2019 Sep 27; 19: 1114–1132. Published online 2019 Sep 4. doi: 10.1016/j.isci.2019.08.057

PMCID:: PMC6831851

Abstract Article PDF–9.8M

Select item 509804118.

TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions

Charles A. S. Banks, Gina Boanca, Zachary T. Lee, Cassandra G. Eubanks, Gaye L. Hattem, Allison Peak, Lauren E. Weems, Juliana J. Conkright, Laurence Florens, Michael P. Washburn

Mol Cell Proteomics. 2016 Nov; 15(11): 3435–3449. Published online 2016 Sep 8. doi: 10.1074/mcp.M116.060509

PMCID:: PMC5098041

Abstract Article PDF–2.1M

Select item 294347619.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 319082620.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Abstract Article PDF–5.7M

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