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Select item 85352051.

Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations

Jiachen Lin, Lina Zhao, Sen Zhao, Shengjie Li, Zhengye Zhao, Zefu Chen, Zhifa Zheng, Jiashen Shao, Yuchen Niu, Xiaoxin Li, Jianguo Terry Zhang, Zhihong Wu, Nan Wu

Genes (Basel) 2021 Oct; 12(10): 1615. Published online 2021 Oct 14. doi: 10.3390/genes12101615

PMCID:: PMC8535205

Abstract Article PDF–8.3M

Select item 70424912.

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas Drysdale, Josue A. Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria M. Siu, Sally L. Dunwoodie

Am J Hum Genet. 2020 Jan 2; 106(1): 129–136. Published online 2019 Dec 26. doi: 10.1016/j.ajhg.2019.12.006

PMCID:: PMC7042491

Abstract Article PDF–893K

Select item 108666603.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Justin O. Szot, Hartmut Cuny, Ella M.M.A. Martin, Delicia Z. Sheng, Kavitha Iyer, Stephanie Portelli, Vivien Nguyen, Jessica M. Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent-Delormé, Alban Lermine, Emma Burkitt-Wright, Weizhen Ji, Lauren Jeffries, Lynn S. Pais, Tiong Y. Tan, James Pitt, Cheryl A. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten-Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John H. McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

J Clin Invest. 2024 Feb 15; 134(4): e174824. Published online 2024 Feb 15. doi: 10.1172/JCI174824

PMCID:: PMC10866660

Abstract Article PDF–2.8M

Select item 69466564.

Different ways to transport ammonia in human and Mycobacterium tuberculosis NAD⁺ synthetases

Watchalee Chuenchor, Tzanko I. Doukov, Kai-Ti Chang, Melissa Resto, Chang-Soo Yun, Barbara Gerratana

Nat Commun. 2020; 11: 16. Published online 2020 Jan 7. doi: 10.1038/s41467-019-13845-4

PMCID:: PMC6946656

Abstract Article PDF–2.7M

Select item 37363185.

Enrichment of Vitamin D response elements in RA associated loci supports a role for vitamin D in the pathogenesis of RA

Annie Yarwood, Paul Martin, John Bowes, Mark Lunt, Jane Worthington, Anne Barton, Steve Eyre

Genes Immun. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Genes Immun. 2013 Jul; 14(5): 325–329. Published online 2013 May 2. doi: 10.1038/gene.2013.23

PMCID:: PMC3736318

Abstract Article PDF–651K

Select item 45016566.

Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes

Xinjuan Xu, Jiangfeng Mao, Mingchen Zhang, Haiming Liu, Haixia Li, Hong Lei, Lu Han, Min Gao

Med Sci Monit. 2015; 21: 1960–1968. Published online 2015 Jul 7. doi: 10.12659/MSM.894793

PMCID:: PMC4501656

Abstract Article PDF–316K

Select item 30867617.

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

Thomas J. Wang, Feng Zhang, J. Brent Richards, Bryan Kestenbaum, Joyce B. van Meurs, Diane Berry, Douglas Kiel, Elizabeth A. Streeten, Claes Ohlsson, Daniel L. Koller, Leena Palotie, Jason D. Cooper, Paul F. O'Reilly, Denise K. Houston, Nicole L. Glazer, Liesbeth Vandenput, Munro Peacock, Julia Shi, Fernando Rivadeneira, Mark I. McCarthy, Pouta Anneli, Ian H. de Boer, Massimo Mangino, Bernet Kato, Deborah J. Smyth, Sarah L. Booth, Paul F. Jacques, Greg L. Burke, Mark Goodarzi, Ching-Lung Cheung, Myles Wolf, Kenneth Rice, David Goltzman, Nick Hidiroglou, Martin Ladouceur, Siu L. Hui, Nicholas J. Wareham, Lynne J. Hocking, Deborah Hart, Nigel K. Arden, Cyrus Cooper, Suneil Malik, William D. Fraser, Anna-Liisa Hartikainen, Guangju Zhai, Helen Macdonald, Nita G. Forouhi, Ruth J.F. Loos, David M. Reid, Alan Hakim, Elaine Dennison, Yongmei Liu, Chris Power, Helen E. Stevens, Laitinen Jaana, Ramachandran S. Vasan, Nicole Soranzo, Jörg Bojunga, Bruce M. Psaty, Mattias Lorentzon, Tatiana Foroud, Tamara B. Harris, Albert Hofman, John-Olov Jansson, Jane A. Cauley, Andre G. Uitterlinden, Quince Gibson, Marjo-Riitta Järvelin, David Karasik, David S. Siscovick, Michael J. Econs, Stephen B. Kritchevsky, Jose C. Florez, John A. Todd, Josee Dupuis, Elina Hypponen, Timothy D. Spector

Lancet. Author manuscript; available in PMC 2011 Jul 17.

Published in final edited form as: Lancet. 2010 Jul 17; 376(9736): 180–188. Published online 2010 Jun 10. doi: 10.1016/S0140-6736(10)60588-0

PMCID:: PMC3086761

Abstract Article PDF–759K

Select item 28833448.

Genome-wide association study of circulating vitamin D levels

Jiyoung Ahn, Kai Yu, Rachael Stolzenberg-Solomon, K. Claire Simon, Marjorie L. McCullough, Lisa Gallicchio, Eric J. Jacobs, Alberto Ascherio, Kathy Helzlsouer, Kevin B. Jacobs, Qizhai Li, Stephanie J. Weinstein, Mark Purdue, Jarmo Virtamo, Ronald Horst, William Wheeler, Stephen Chanock, David J. Hunter, Richard B. Hayes, Peter Kraft, Demetrius Albanes

Hum Mol Genet. 2010 Jul 1; 19(13): 2739–2745. Published online 2010 Apr 23. doi: 10.1093/hmg/ddq155

PMCID:: PMC2883344

Abstract Article PDF–144K

Select item 111388649.

Enzymology of NAD+ homeostasis in man

G. Magni, A. Amici, M. Emanuelli, G. Orsomando, N. Raffaelli, S. Ruggieri

Cell Mol Life Sci. 2004 Jan; 61(1): 19–34. doi: 10.1007/s00018-003-3161-1

PMCID:: PMC11138864

Abstract Article PDF–291K

Select item 794896410.

The deubiquitinase TRABID stabilizes the K29/K48-specific E3 ubiquitin ligase HECTD1

Lee D. Harris, Janic Le Pen, Nico Scholz, Juliusz Mieszczanek, Natalie Vaughan, Simon Davis, Georgina Berridge, Benedikt M. Kessler, Mariann Bienz, Julien D.F. Licchesi

J Biol Chem. 2021 Jan-Jun; 296: 100246. Published online 2021 Jan 8. doi: 10.1074/jbc.RA120.015162

PMCID:: PMC7948964

Abstract Article PDF–2.7M

Select item 722681211.

Hepatitis B Virus HBx Protein Mediates the Degradation of Host Restriction Factors through the Cullin 4 DDB1 E3 Ubiquitin Ligase Complex

Marissa M. Minor, F. Blaine Hollinger, Adrienne L. McNees, Sung Yun Jung, Antrix Jain, Joseph M. Hyser, Karl-Dimiter Bissig, Betty L. Slagle

Cells. 2020 Apr; 9(4): 834. Published online 2020 Mar 30. doi: 10.3390/cells9040834

PMCID:: PMC7226812

Abstract Article PDF–2.3M

Select item 44214712.

A Protein Interaction Framework for Human mRNA Degradation

Ben Lehner, Christopher M. Sanderson

Genome Res. 2004 Jul; 14(7): 1315–1323. doi: 10.1101/gr.2122004

PMCID:: PMC442147

Abstract Article PDF–272K

Select item 410454413.

A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways

Mikko Taipale, George Tucker, Jian Peng, Irina Krykbaeva, Zhen-Yuan Lin, Brett Larsen, Hyungwon Choi, Bonnie Berger, Anne-Claude Gingras, Susan Lindquist

Cell. Author manuscript; available in PMC 2015 Jul 17.

Published in final edited form as: Cell. 2014 Jul 17; 158(2): 434–448. doi: 10.1016/j.cell.2014.05.039

PMCID:: PMC4104544

Abstract Article PDF–3.2M

Select item 566346514.

A Global Analysis of The Receptor Tyrosine Kinase – Protein Phosphatase Interactome

Zhong Yao, Katelyn Darowski, Nicole St-Denis, Victoria Wong, Fabian Offensperger, Annabel Villedieu, Shahreen Amin, Ramy Malty, Hiroyuki Aoki, Hongbo Guo, Yang Xu, Caterina Iorio, Max Kotlyar, Andrew Emili, Igor Jurisica, Benjamin G Neel, Mohan Babu, Anne-Claude Gingras, Igor Stagljar

Mol Cell. Author manuscript; available in PMC 2017 Oct 31.

Published in final edited form as: Mol Cell. 2017 Jan 19; 65(2): 347–360. Published online 2017 Jan 5. doi: 10.1016/j.molcel.2016.12.004

PMCID:: PMC5663465

Abstract Article PDF–2.1M

Select item 1626715.

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491

PMCID:: PMC16267

Abstract Article PDF–111K

Select item 926261416.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 549522517.

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing

Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114

PMCID:: PMC5495225

Abstract Article PDF–1.3M

Select item 674264618.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 732206719.

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 294516820.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

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