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Items: 1 to 20 of 21

1.
Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis
Elio G Carmona, Jose A García-Giménez, Raquel López-Mejías, Chiea Chuen Khor, Jong-Keuk Lee, Ekim Taskiran, Seza Ozen, Alojzija Hocevar, Lili Liu, Mario Gorenjak, Uroš Potočnik, Krzysztof Kiryluk, Norberto Ortego-Centeno, María C Cid, José Hernández-Rodríguez, Santos Castañeda, Miguel A González-Gay, David Burgner, Javier Martín, Ana Márquez, Spanish IgA Vasculitis Consortium;* International Kawasaki Disease Genetics Consortium
Rheumatology (Oxford) 2022 Mar; 61(3): 1204–1210. Published online 2021 May 16. doi: 10.1093/rheumatology/keab443
PMCID:
PMC10687354
AbstractArticlePDF–173K
2.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M
3.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
4.
Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy
Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115
PMCID:
PMC6077722
AbstractArticlePDF–2.4M
5.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
6.
Systematic protein–protein interaction mapping for clinically relevant human GPCRs
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730
AbstractArticlePDF–4.1M
7.
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
M Hashim Raza, Carlos E F Domingues, Ronald Webster, Eduardo Sainz, Emily Paris, Rachel Rahn, Joanne Gutierrez, Ho Ming Chow, Jennifer Mundorff, Chang-soo Kang, Naveeda Riaz, Muhammad A R Basra, Shaheen Khan, Sheikh Riazuddin, Danilo Moretti-Ferreira, Allen Braun, Dennis Drayna
Eur J Hum Genet. 2016 Apr; 24(4): 529–534. Published online 2015 Jul 1. doi: 10.1038/ejhg.2015.154
PMCID:
PMC4929873
AbstractArticlePDF–253K
8.
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering
M. Hashim Raza, Rafael Mattera, Robert Morell, Eduardo Sainz, Rachel Rahn, Joanne Gutierrez, Emily Paris, Jessica Root, Beth Solomon, Carmen Brewer, M. Asim Raza Basra, Shaheen Khan, Sheikh Riazuddin, Allen Braun, Juan S. Bonifacino, Dennis Drayna
Am J Hum Genet. 2015 Nov 5; 97(5): 715–725. Published online 2015 Nov 5. doi: 10.1016/j.ajhg.2015.10.007
PMCID:
PMC4667129
AbstractArticlePDF–1.0M
9.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
10.
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
Huan Chen, Junquan Xu, Yuxi Zhou, Yong Gao, Guoqing Wang, Jiguang Xia, Michael SY Huen, Wai Ting Siok, Yuyang Jiang, Li Hai Tan, Yimin Sun
BMC Genet. 2015; 16: 7. Published online 2015 Feb 3. doi: 10.1186/s12863-015-0172-5
PMCID:
PMC4342093
AbstractArticlePDF–705K
11.
Structure and Function of the DUF2233 Domain in Bacteria and in the Human Mannose 6-Phosphate Uncovering Enzyme
Debanu Das, Wang-Sik Lee, Joanna C. Grant, Hsiu-Ju Chiu, Carol L. Farr, Julie Vance, Heath E. Klock, Mark W. Knuth, Mitchell D. Miller, Marc-André Elsliger, Ashley M. Deacon, Adam Godzik, Scott A. Lesley, Stuart Kornfeld, Ian A. Wilson
J Biol Chem. 2013 Jun 7; 288(23): 16789–16799. Published online 2013 Apr 9. doi: 10.1074/jbc.M112.434977
PMCID:
PMC3675612
AbstractArticlePDF–3.3M
12.
A role for inherited metabolic deficits in persistent developmental stuttering
Changsoo Kang, Dennis Drayna
Mol Genet Metab. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Mol Genet Metab. 2012 Nov; 107(3): 276–280. Published online 2012 Jul 28. doi: 10.1016/j.ymgme.2012.07.020
PMCID:
PMC3483359
AbstractArticlePDF–471K
13.
Toward an understanding of the protein interaction network of the human liver
Jian Wang, Keke Huo, Lixin Ma, Liujun Tang, Dong Li, Xiaobi Huang, Yanzhi Yuan, Chunhua Li, Wei Wang, Wei Guan, Hui Chen, Chaozhi Jin, Junchen Wei, Wanqiao Zhang, Yongsheng Yang, Qiongming Liu, Ying Zhou, Cuili Zhang, Zhihao Wu, Wangxiang Xu, Ying Zhang, Tao Liu, Donghui Yu, Yaping Zhang, Liang Chen, Dewu Zhu, Xing Zhong, Lixin Kang, Xiang Gan, Xiaolan Yu, Qi Ma, Jing Yan, Li Zhou, Zhongyang Liu, Yunping Zhu, Tao Zhou, Fuchu He, Xiaoming Yang
Mol Syst Biol. 2011; 7: 536. Published online 2011 Oct 11. doi: 10.1038/msb.2011.67
Correction in:
Mol Syst Biol. 2017 Dec; 13(12): 965.
PMCID:
PMC3261708
AbstractArticlePDF–2.0M
14.
Analysis of Mannose 6-Phosphate Uncovering Enzyme Mutations Associated with Persistent Stuttering
Wang-Sik Lee, Changsoo Kang, Dennis Drayna, Stuart Kornfeld
J Biol Chem. 2011 Nov 18; 286(46): 39786–39793. Published online 2011 Sep 28. doi: 10.1074/jbc.M111.295899
PMCID:
PMC3220557
AbstractArticlePDF–959K
15.
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
AbstractArticlePDF–1.0M
16.
Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering
Changsoo Kang, Sheikh Riazuddin, Jennifer Mundorff, Donna Krasnewich, Penelope Friedman, James C. Mullikin, Dennis Drayna
N Engl J Med. Author manuscript; available in PMC 2010 Sep 9.
Published in final edited form as: N Engl J Med. 2010 Feb 25; 362(8): 677–685. Published online 2010 Feb 10. doi: 10.1056/NEJMoa0902630
PMCID:
PMC2936507
AbstractArticlePDF–1.7M
17.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K
18.
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
AbstractArticlePDF–140K
19.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K
20.
Large-Scale Concatenation cDNA Sequencing
Wei Yu, Björn Andersson, Kim C. Worley, Donna M. Muzny, Yan Ding, Wen Liu, Jennifer Y. Ricafrente, Meredith A. Wentland, Greg Lennon, Richard A. Gibbs
Genome Res. 1997 Apr; 7(4): 353–358. doi: 10.1101/gr.7.4.353
PMCID:
PMC139146
AbstractArticlePDF–62K

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