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Items: 1 to 20 of 24

1.
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
AbstractArticlePDF–918K
2.
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
3.
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M. England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H. O’Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Genome Aggregation Database Consortium, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur
Nature. 2020; 581(7809): 434–443. Published online 2020 May 27. doi: 10.1038/s41586-020-2308-7
Correction in:
Nature. 2021; 590(7846): E53.
PMCID:
PMC7334197
AbstractArticlePDF–3.1M
4.
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes
Antonio Rausell, Yufei Luo, Marie Lopez, Yoann Seeleuthner, Franck Rapaport, Antoine Favier, Peter D. Stenson, David N. Cooper, Etienne Patin, Jean-Laurent Casanova, Lluis Quintana-Murci, Laurent Abel
Proc Natl Acad Sci U S A. 2020 Jun 16; 117(24): 13626–13636. Published online 2020 Jun 2. doi: 10.1073/pnas.1917993117
PMCID:
PMC7306792
AbstractArticlePDF–1.0M
5.
GRIN3B missense mutation as an inherited risk factor for schizophrenia: whole-exome sequencing in a family with a familiar history of psychotic disorders
TOBIAS HORNIG, BJÖRN GRÜNING, KOUSIK KUNDU, TORSTEN HOUWAART, ROLF BACKOFEN, KNUT BIBER, CLAUS NORMANN
Genet Res (Camb) 2017; 99: e1. Published online 2017 Jan 30. doi: 10.1017/S0016672316000148
PMCID:
PMC6865172
AbstractArticlePDF–249K
6.
Motoneuron-Specific Expression of NR3B, a Novel NMDA-Type Glutamate Receptor Subunit That Works in a Dominant-Negative Manner
Mayumi Nishi, Heather Hinds, Hai-Ping Lu, Mitsuhiro Kawata, Yasunori Hayashi
J Neurosci. 2001 Dec 1; 21(23): RC185. doi: 10.1523/JNEUROSCI.21-23-j0003.2001
PMCID:
PMC6763906
AbstractPDF–381K
7.
Specific Assembly with the NMDA Receptor 3B Subunit Controls Surface Expression and Calcium Permeability of NMDA Receptors
Keiko Matsuda, Matt Fletcher, Yoshinori Kamiya, Michisuke Yuzaki
J Neurosci. 2003 Nov 5; 23(31): 10064–10073. doi: 10.1523/JNEUROSCI.23-31-10064.2003
PMCID:
PMC6740865
AbstractArticlePDF–432K
8.
Human immunodeficiency virus type 1 clade B and C gp120 differentially induce neurotoxin arachidonic acid in human astrocytes: implications for neuroAIDS
Thangavel Samikkannu, Marisela Agudelo, Nimisha Gandhi, Pichili V. B. Reddy, Zainulabedin M. Saiyed, Donald Nwankwo, Madhavan P. N. Nair
J Neurovirol. Author manuscript; available in PMC 2017 Dec 20.
Published in final edited form as: J Neurovirol. 2011 Jun; 17(3): 230–238. Published online 2011 Apr 14. doi: 10.1007/s13365-011-0026-5
PMCID:
PMC5737634
AbstractArticlePDF–553K
9.
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Danish Saleheen, Pradeep Natarajan, Irina M. Armean, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J. Karczewski, Anne H. O’Donnell-Luria, Kaitlin E. Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M. Krauss, Daniel G. MacArthur, Stacey Gabriel, Eric S. Lander, Mark J. Daly, Philippe Frossard, John Danesh, Daniel J. Rader, Sekar Kathiresan
Nature. Author manuscript; available in PMC 2017 Oct 12.
Published in final edited form as: Nature. 2017 Apr 12; 544(7649): 235–239. doi: 10.1038/nature22034
PMCID:
PMC5600291
AbstractArticlePDF–1.4M
10.
Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren’s syndrome
Angad S Johar, Claudio Mastronardi, Adriana Rojas-Villarraga, Hardip R Patel, Aaron Chuah, Kaiman Peng, Angela Higgins, Peter Milburn, Stephanie Palmer, Maria Fernanda Silva-Lara, Jorge I Velez, Dan Andrews, Matthew Field, Gavin Huttley, Chris Goodnow, Juan-Manuel Anaya, Mauricio Arcos-Burgos
J Transl Med. 2015; 13: 173. Published online 2015 Jun 2. doi: 10.1186/s12967-015-0525-x
PMCID:
PMC4450850
AbstractArticlePDF–1.1M
11.
A Naturally Occurring Null Variant of the NMDA Type Glutamate Receptor NR3B Subunit Is a Risk Factor of Schizophrenia
Hitomi Matsuno, Kazutaka Ohi, Ryota Hashimoto, Hidenaga Yamamori, Yuka Yasuda, Michiko Fujimoto, Satomi Yano-Umeda, Takeo Saneyoshi, Masatoshi Takeda, Yasunori Hayashi
PLoS One. 2015; 10(3): e0116319. Published online 2015 Mar 13. doi: 10.1371/journal.pone.0116319
PMCID:
PMC4358936
AbstractArticlePDF–3.6M
12.
Neurotoxicity of human immunodeficiency virus-1: viral proteins and axonal transport
Italo Mocchetti, Alessia Bachis, Valeriya Avdoshina
Neurotox Res. Author manuscript; available in PMC 2014 Jul 9.
Published in final edited form as: Neurotox Res. 2012 Jan; 21(1): 79–89. Published online 2011 Sep 27. doi: 10.1007/s12640-011-9279-2
PMCID:
PMC4089041
AbstractArticlePDF–432K
13.
D1/NMDA Receptors and Concurrent Methamphetamine+ HIV-1 Tat Neurotoxicity
Michael Y. Aksenov, M. V. Aksenova, C. F. Mactutus, Rosemarie M. Booze
J Neuroimmune Pharmacol. Author manuscript; available in PMC 2014 Jun 3.
Published in final edited form as: J Neuroimmune Pharmacol. 2012 Sep; 7(3): 599–608. Published online 2012 May 3. doi: 10.1007/s11481-012-9362-3
PMCID:
PMC4041990
AbstractArticlePDF–2.5M
14.
HIV-1 Tat-Mediated Apoptosis in Human Blood-Retinal Barrier-Associated Cells
Xin Che, Fanglin He, Yuan Deng, Shiqiong Xu, Xianqun Fan, Ping Gu, Zhiliang Wang
PLoS One. 2014; 9(4): e95420. Published online 2014 Apr 16. doi: 10.1371/journal.pone.0095420
PMCID:
PMC3989329
AbstractArticlePDF–10M
15.
Chemokine Co-Receptor CCR5/CXCR4-Dependent Modulation of Kv2.1 Channel Confers Acute Neuroprotection to HIV-1 Glycoprotein gp120 Exposure
Andrew J. Shepherd, Lipin Loo, Durga P. Mohapatra
PLoS One. 2013; 8(9): e76698. Published online 2013 Sep 24. doi: 10.1371/journal.pone.0076698
PMCID:
PMC3782454
AbstractArticlePDF–2.9M
16.
Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ε4, and the Risk of Late-Onset Alzheimer Disease in African Americans
Christiane Reitz, Gyungah Jun, Adam Naj, Ruchita Rajbhandary, Badri Narayan Vardarajan, Li-San Wang, Otto Valladares, Chiao-Feng Lin, Eric B. Larson, Neill R. Graff-Radford, Denis Evans, Philip L. De Jager, Paul K. Crane, Joseph D. Buxbaum, Jill R. Murrell, Towfique Raj, Nilufer Ertekin-Taner, Mark Logue, Clinton T. Baldwin, Robert C. Green, Lisa L. Barnes, Laura B. Cantwell, M. Daniele Fallin, Rodney C. P. Go, Patrick Griffith, Thomas O. Obisesan, Jennifer J. Manly, Kathryn L. Lunetta, M. Ilyas Kamboh, Oscar L. Lopez, David A. Bennett, Hugh Hendrie, Kathleen S. Hall, Alison M. Goate, Goldie S. Byrd, Walter A. Kukull, Tatiana M. Foroud, Jonathan L. Haines, Lindsay A. Farrer, Margaret A. Pericak-Vance, Gerard D. Schellenberg, Richard Mayeux, the Alzheimer Disease Genetics Consortium
JAMA. Author manuscript; available in PMC 2013 May 30.
Published in final edited form as: JAMA. 2013 Apr 10; 309(14): 1483–1492. doi: 10.1001/jama.2013.2973
PMCID:
PMC3667653
AbstractArticlePDF–947K
17.
Open-channel blockade is less effective on GluN3B than GluN3A subunit-containing NMDA receptors
David W. McClymont, John Harris, Ian R. Mellor
Eur J Pharmacol. 2012 Jul 5; 686(1-3): 22–31. doi: 10.1016/j.ejphar.2012.04.036
PMCID:
PMC3657159
AbstractArticle
18.
HIV Immune Complexes Prevent Excitotoxicity by Interaction with NMDA Receptors
Jeffrey A. Rumbaugh, Muznabanu Bachani, Wenxue Li, Tracy R. Butler, Katherine J. Smith, Mario A. Bianchet, Tongguang Wang, Mark A. Prendergast, Ned Sacktor, Avindra Nath
Neurobiol Dis. Author manuscript; available in PMC 2014 Feb 25.
Published in final edited form as: Neurobiol Dis. 2013 Jan; 0: 169–176. Published online 2012 Aug 25. doi: 10.1016/j.nbd.2012.08.013
PMCID:
PMC3556339
AbstractArticlePDF–749K
19.
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
J Tarabeux, O Kebir, J Gauthier, F F Hamdan, L Xiong, A Piton, D Spiegelman, É Henrion, B Millet, S2D team, F Fathalli, R Joober, J L Rapoport, L E DeLisi, É Fombonne, L Mottron, N Forget-Dubois, M Boivin, J L Michaud, P Drapeau, R G Lafrenière, G A Rouleau, M-O Krebs
Transl Psychiatry. 2011 Nov; 1(11): e55. Published online 2011 Nov 15. doi: 10.1038/tp.2011.52
PMCID:
PMC3309470
AbstractArticlePDF–299K
20.
A systematic survey of loss-of-function variants in human protein-coding genes
Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lukas Habegger, Joseph K. Pickrell, Stephen B. Montgomery, Cornelis A. Albers, Zhengdong Zhang, Donald F. Conrad, Gerton Lunter, Hancheng Zheng, Qasim Ayub, Mark A. DePristo, Eric Banks, Min Hu, Robert E. Handsaker, Jeffrey Rosenfeld, Menachem Fromer, Mike Jin, Xinmeng Jasmine Mu, Ekta Khurana, Kai Ye, Mike Kay, Gary Ian Saunders, Marie-Marthe Suner, Toby Hunt, If H.A. Barnes, Clara Amid, Denise R. Carvalho-Silva, Alexandra H Bignell, Catherine Snow, Bryndis Yngvadottir, Suzannah Bumpstead, David N. Cooper, Yali Xue, Irene Gallego Romero, 1000 Genomes Project Consortium, Jun Wang, Yingrui Li, Richard A. Gibbs, Steven A. McCarroll, Emmanouil T. Dermitzakis, Jonathan K. Pritchard, Jeffrey C. Barrett, Jennifer Harrow, Matthew E. Hurles, Mark B. Gerstein, Chris Tyler-Smith
Science. Author manuscript; available in PMC 2012 Aug 17.
Published in final edited form as: Science. 2012 Feb 17; 335(6070): 823–828. doi: 10.1126/science.1215040
Correction in:
volume 336 on page 296
PMCID:
PMC3299548
AbstractArticlePDF–1.0M

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