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Items: 18

Select item 71699831.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 67426462.

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 63149573.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z

PMCID:: PMC6314957

Abstract Article PDF–1.3M

Select item 55316114.

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

Abstract Article PDF–2.7M

Select item 48864575.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

Ariana Kariminejad, Navid Almadani, Atefeh Khoshaeen, Bjorn Olsson, Ali-Reza Moslemi, Homa Tajsharghi

BMC Genet. 2016; 17: 71. Published online 2016 May 31. doi: 10.1186/s12863-016-0382-5

PMCID:: PMC4886457

Abstract Article PDF–1016K

Select item 46172116.

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

Abstract Article PDF–2.2M

Select item 44412157.

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 42665888.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050

PMCID:: PMC4266588

Abstract Article PDF–3.1M

Select item 37405689.

Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia

Virginie J.M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, René Höhn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching-Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M. Kamran Ikram, Gabriëlle H.S. Buitendijk, George McMahon, John P. Kemp, Beate St. Pourcain, Claire L. Simpson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Ping Yip, Daniel W. H. Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E. K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea-Chuen Khor, E-Shyong Tai, Tin Aung, Eranga Vithana, Wan-Ting Tay, Veluchamy A. Barathi, CREAM, Peng Chen, Ruoying Li, Jiemin Liao, Yingfeng Zheng, Rick T. Ong, Angela Döring, DCCT/EDIC Research Group, David M. Evans, Nicholas J. Timpson, Annemieke J.M.H. Verkerk, Thomas Meitinger, Olli Raitakari, Felicia Hawthorne, Tim D. Spector, Lennart C. Karssen, Mario Pirastu, Federico Murgia, Wei Ang, WTCCC2, Aniket Mishra, Grant W. Montgomery, Craig E. Pennell, Phillippa M. Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Jin Wang, Maria Schache, Sarayut Janmahasathian, Robert P. Igo, Jr, Jonathan H. Lass, Emily Chew, Sudha K. Iyengar, the Fuchs’ Genetics Multi-Center Study Group, Theo G.M.F. Gorgels, Igor Rudan, Caroline Hayward, Alan F. Wright, Ozren Polasek, Zoran Vatavuk, James F. Wilson, Brian Fleck, Tanja Zeller, Alireza Mirshahi, Christian Müller, Andre’ G. Uitterlinden, Fernando Rivadeneira, Johannes R. Vingerling, Albert Hofman, Ben A. Oostra, Najaf Amin, Arthur A.B. Bergen, Yik-Ying Teo, Jugnoo S. Rahi, Veronique Vitart, Cathy Williams, Paul N. Baird, Tien-Yin Wong, Konrad Oexle, Norbert Pfeiffer, David A. Mackey, Terri L. Young, Cornelia M. van Duijn, Seang-Mei Saw, Joan E. Bailey Wilson, Dwight Stambolian, Caroline C. Klaver, Christopher J. Hammond

Nat Genet. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 314–318. Published online 2013 Feb 10. doi: 10.1038/ng.2554

Correction in:: volume 45 on page 712

PMCID:: PMC3740568

Abstract Article PDF–575K

Select item 317805910.

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 297075111.

Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans

Nancy L. Saccone, Tae-Hwi Schwantes-An, Jen C. Wang, Richard A. Grucza, Naomi Breslau, Dorothy Hatsukami, Eric O. Johnson, John P. Rice, Alison M. Goate, Laura J. Bierut

Genes Brain Behav. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Genes Brain Behav. 2010 Oct; 9(7): 741–750. Published online 2010 Jul 22. doi: 10.1111/j.1601-183X.2010.00608.x

PMCID:: PMC2970751

Abstract Article PDF–333K

Select item 296729712.

A large-scale candidate-gene association study of age at menarche and age at natural menopause

Chunyan He, Peter Kraft, Daniel I. Chasman, Julie E. Buring, Constance Chen, Susan E. Hankinson, Guillaume Paré, Stephen Chanock, Paul M. Ridker, David J. Hunter

Hum Genet. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Hum Genet. 2010 Nov; 128(5): 515–527. Published online 2010 Aug 24. doi: 10.1007/s00439-010-0878-4

PMCID:: PMC2967297

Abstract Article PDF–84K

Select item 269330713.

Multiple Distinct Risk Loci for Nicotine Dependence Identified by Dense Coverage of the Complete Family of Nicotinic Receptor Subunit (CHRN) Genes

Nancy L. Saccone, Scott F. Saccone, Anthony L. Hinrichs, Jerry A. Stitzel, Weimin Duan, Michele L. Pergadia, Arpana Agrawal, Naomi Breslau, Richard A. Grucza, Dorothy Hatsukami, Eric O. Johnson, Pamela A. F. Madden, Gary E. Swan, Jen C. Wang, Alison M. Goate, John P. Rice, Laura J. Bierut

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2010 Jun 5.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5; 150B(4): 453–466. doi: 10.1002/ajmg.b.30828

PMCID:: PMC2693307

Abstract Article PDF–1.6M

Select item 247867914.

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study

Patrick F McArdle, Sue Rutherford, Braxton D Mitchell, Coleen M Damcott, Ying Wang, Vasan Ramachandran, Sandy Ott, Yen-Pei C Chang, Daniel Levy, Nanette Steinle

BMC Med Genet. 2008; 9: 67. Published online 2008 Jul 14. doi: 10.1186/1471-2350-9-67

PMCID:: PMC2478679

Abstract Article PDF–300K

Select item 155949215.

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E. V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher

Am J Hum Genet. 2006 Aug; 79(2): 390–395. Published online 2006 Jun 20. doi: 10.1086/506256

PMCID:: PMC1559492

Abstract Article PDF–1.4M

Select item 155948216.

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Katrin Hoffmann, Juliane S. Müller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H. Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem, Valerie Delague, Eugen Boltshauser, Beril Talim, Rita Horvath, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, Stefan Mundlos

Am J Hum Genet. 2006 Aug; 79(2): 303–312. Published online 2006 Jun 20. doi: 10.1086/506257

PMCID:: PMC1559482

Abstract Article PDF–3.3M

Select item 29613017.

Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.

B Vernet-der Garabedian, M Lacokova, B Eymard, E Morel, M Faltin, J Zajac, O Sadovsky, M Dommergues, P Tripon, J F Bach

J Clin Invest. 1994 Aug; 94(2): 555–559. doi: 10.1172/JCI117369

PMCID:: PMC296130

Summary Page Browse PDF–778K

Select item 13924118.

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

Abstract Article PDF–118K

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