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Select item 85221011.

Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene

Hamza Chouk, Mohamed Ben Rejeb, Lobna Boussofara, Haїfa Elmabrouk, Najet Ghariani, Badreddine Sriha, Ali Saad, Dorra H’Mida, Mohamed Denguezli

Hum Genomics. 2021; 15: 63. Published online 2021 Oct 17. doi: 10.1186/s40246-021-00362-z

PMCID:: PMC8522101

Abstract Article PDF–1.9M

Select item 73220672.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 67169383.

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan, Hossein Fahimi

BMC Med Genet. 2019; 20: 147. Published online 2019 Aug 29. doi: 10.1186/s12881-019-0879-7

PMCID:: PMC6716938

Abstract Article PDF–1.0M

Select item 60007114.

核苷转运蛋白基因ENT3单核苷酸多态性与肺癌易感性的关系

李雪飞, 张颉, 张增利, 周彩存

Zhongguo Fei Ai Za Zhi. 2010 May 20; 13(5): 458–463. Chinese. doi: 10.3779/j.issn.1009-3419.2010.05.15

PMCID:: PMC6000711

Abstract Article PDF–1.5M

Select item 59727955.

ENT3 utilizes a pH Sensing Mechanism for Transport

Anusha Singh, Rajgopal Govindarajan

Channels (Austin) 2018; 12(1): 78–80. Published online 2017 Nov 15. doi: 10.1080/19336950.2017.1389581

PMCID:: PMC5972795

Article PDF–347K

Select item 58963706.

Identification of Structural and Molecular Features Involved in the Transport of 3′-Deoxy-Nucleoside Analogs by Human Equilibrative Nucleoside Transporter 3

MD Fazlur Rahman, Radhika Raj, Rajgopal Govindarajan

Drug Metab Dispos. 2018 May; 46(5): 600–609. Published online 2018 May. doi: 10.1124/dmd.117.079400

PMCID:: PMC5896370

Abstract Article PDF–1.3M

Select item 55926597.

Molecular determinants of acidic pH-dependent transport of human equilibrative nucleoside transporter 3

Md Fazlur Rahman, Candice Askwith, Rajgopal Govindarajan

J Biol Chem. 2017 Sep 8; 292(36): 14775–14785. Published online 2017 Jul 20. doi: 10.1074/jbc.M117.787952

PMCID:: PMC5592659

Abstract Article PDF–2.1M

Select item 44412158.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 36074819.

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Philippe M. Campeau, James T. Lu, Gautam Sule, Ming-Ming Jiang, Yangjin Bae, Simran Madan, Wolfgang Högler, Nicholas J. Shaw, Steven Mumm, Richard A. Gibbs, Michael P. Whyte, Brendan H. Lee

Hum Mol Genet. 2012 Nov 15; 21(22): 4904–4909. Published online 2012 Aug 8. doi: 10.1093/hmg/dds326

PMCID:: PMC3607481

Abstract Article PDF–261K

Select item 354247010.

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 352258711.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 325160512.

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

Alexandre Bolze, Avinash Abhyankar, Audrey V. Grant, Bhavi Patel, Ruchi Yadav, Minji Byun, Daniel Caillez, Jean-Francois Emile, Marçal Pastor-Anglada, Laurent Abel, Anne Puel, Rajgopal Govindarajan, Loic de Pontual, Jean-Laurent Casanova

PLoS One. 2012; 7(1): e29708. Published online 2012 Jan 4. doi: 10.1371/journal.pone.0029708

PMCID:: PMC3251605

Abstract Article PDF–3.3M

Select item 317805913.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 293469814.

Human Equilibrative Nucleoside Transporter-3 (hENT3) Spectrum Disorder Mutations Impair Nucleoside Transport, Protein Localization, and Stability

Nayoung Kang, Ah Hyun Jun, Yangzom Doma Bhutia, Natarajan Kannan, Jashvant D. Unadkat, Rajgopal Govindarajan

J Biol Chem. 2010 Sep 3; 285(36): 28343–28352. Published online 2010 Jul 1. doi: 10.1074/jbc.M110.109199

PMCID:: PMC2934698

Abstract Article PDF–2.2M

Select item 281667915.

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

Neil V. Morgan, Mark R. Morris, Hakan Cangul, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P. G. Vreeswijk, Peter Devilee, Margaret A. Knowles, Serdar Ceylaner, Richard C. Trembath, Carlos Dalence, Erol Kismet, Vedat Köseoğlu, Hans-Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R. Maher

PLoS Genet. 2010 Feb; 6(2): e1000833. Published online 2010 Feb 5. doi: 10.1371/journal.pgen.1000833

PMCID:: PMC2816679

Abstract Article PDF–739K

Select item 267067316.

Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3

Rajgopal Govindarajan, George P. H. Leung, Mingyan Zhou, Chung-Ming Tse, Joanne Wang, Jashvant D Unadkat

Am J Physiol Gastrointest Liver Physiol. 2009 Apr; 296(4): G910–G922. Published online 2009 Jan 22. doi: 10.1152/ajpgi.90672.2008

PMCID:: PMC2670673

Abstract Article

Select item 256193917.

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski

Am J Hum Genet. 2008 Oct 10; 83(4): 529–534. Published online 2008 Oct 3. doi: 10.1016/j.ajhg.2008.09.013

PMCID:: PMC2561939

Abstract Article PDF–692K

Select item 138022518.

A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease

Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate

Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851

PMCID:: PMC1380225

Abstract Article PDF–329K

Select item 52892819.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 40369720.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Abstract Article PDF–120K

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