PMC Links for Gene (Select 23218) - PMC

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Items: 19

Select item 60505111.

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

Walter HA Kahr, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W Rowley, Fred G Pluthero, Denisa Urban, Shay Fabbro, Brie Nixon, Rick Gadzinski, Mike Storck, Kai Wang, Gi-Yung Ryu, Shawn M Jobe, Brian C Schutte, Jack Moseley, Noeleen B Loughran, John Parkinson, Andrew S Weyrich, Jorge Di Paola

Nat Genet. Author manuscript; available in PMC 2018 Jul 18.

Published in final edited form as: Nat Genet. 2011 Jul 17; 43(8): 738–740. Published online 2011 Jul 17. doi: 10.1038/ng.884

PMCID:: PMC6050511

Abstract Article PDF–400K

Select item 102877422.

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

Laure Delage, Francesco Carbone, Quentin Riller, Jean-Luc Zachayus, Erwan Kerbellec, Armelle Buzy, Marie-Claude Stolzenberg, Marine Luka, Camille de Cevins, Georges Kalouche, Rémi Favier, Alizée Michel, Sonia Meynier, Aurélien Corneau, Caroline Evrard, Nathalie Neveux, Sébastien Roudières, Brieuc P. Pérot, Mathieu Fusaro, Christelle Lenoir, Olivier Pellé, Mélanie Parisot, Marc Bras, Sébastien Héritier, Guy Leverger, Anne-Sophie Korganow, Capucine Picard, Sylvain Latour, Bénédicte Collet, Alain Fischer, Bénédicte Neven, Aude Magérus, Mickaël Ménager, Benoit Pasquier, Frédéric Rieux-Laucat

Nat Commun. 2023; 14: 3728. Published online 2023 Jun 22. doi: 10.1038/s41467-023-39295-7

PMCID:: PMC10287742

Abstract Article PDF–3.0M

Select item 56695593.

NBEAL2 is required for neutrophil and NK cell function and pathogen defense

John M. Sowerby, David C. Thomas, Simon Clare, Marion Espéli, Jose A. Guerrero, Kim Hoenderdos, Katherine Harcourt, Morgan Marsden, Juneid Abdul-Karim, Mathew Clement, Robin Antrobus, Yagnesh Umrania, Philippa R. Barton, Shaun M. Flint, Jatinder K. Juss, Alison M. Condliffe, Paul A. Lyons, Ian R. Humphreys, Edwin R. Chilvers, Willem H. Ouwehand, Gordon Dougan, Kenneth G.C. Smith

J Clin Invest. 2017 Sep 1; 127(9): 3521–3526. Published online 2017 Aug 7. doi: 10.1172/JCI91684

PMCID:: PMC5669559

Abstract Article PDF–879K

Select item 53951104.

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer

Anouck Wijgaerts, Christine Wittevrongel, Chantal Thys, Timothy Devos, Kathelijne Peerlinck, Marloes R. Tijssen, Chris Van Geet, Kathleen Freson

Haematologica. 2017 Apr; 102(4): 695–706. Prepublished online 2017 Jan 12. doi: 10.3324/haematol.2016.152777

PMCID:: PMC5395110

Abstract Article PDF–1.6M

Select item 31540195.

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

Meral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat, Cornelius F Boerkoel, Nehama Kfir, Yan Huang, Dawn Maynard, Heidi Dorward, Katherine Berger, Robert Kleta, Yair Anikster, Mutlu Arat, Andrew S Freiberg, Beate E Kehrel, Kerstin Jurk, Pedro Cruz, Jim C Mullikin, James G White, Marjan Huizing, William A Gahl

Nat Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 732–734. Published online 2011 Jul 17. doi: 10.1038/ng.883

PMCID:: PMC3154019

Abstract Article PDF–242K

Select item 34289346.

Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome

Cornelis A Albers, Ana Cvejic, Rémi Favier, Evelien E Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan, Ross NW Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A Smethurst, Jonathan Stephens, Katrin Voss, Alan Nurden, Augusto Rendon, Paquita Nurden, Willem H Ouwehand

Nat Genet. Author manuscript; available in PMC 2012 Aug 28.

Published in final edited form as: Nat Genet. 2011 Jul 17; 43(8): 735–737. Published online 2011 Jul 17. doi: 10.1038/ng.885

PMCID:: PMC3428934

Abstract Article PDF–1.0M

Select item 65543147.

Defective Zn²⁺ homeostasis in mouse and human platelets with α- and δ-storage pool diseases

Sanjeev Kiran Gotru, Johanna P. van Geffen, Magdolna Nagy, Elmina Mammadova-Bach, Julia Eilenberger, Julia Volz, Georgi Manukjan, Harald Schulze, Leonard Wagner, Stefan Eber, Christian Schambeck, Carsten Deppermann, Sanne Brouns, Paquita Nurden, Andreas Greinacher, Ulrich Sachs, Bernhard Nieswandt, Heike M. Hermanns, Johan W. M. Heemskerk, Attila Braun

Sci Rep. 2019; 9: 8333. Published online 2019 Jun 6. doi: 10.1038/s41598-019-44751-w

PMCID:: PMC6554314

Abstract Article PDF–1.1M

Select item 58777838.

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary, Wyatt W. Yue, Willem H. Ouwehand, Jose A. Guerrero

Blood. 2018 Mar 1; 131(9): 1000–1011. Prepublished online 2017 Nov 29. doi: 10.1182/blood-2017-08-800359

PMCID:: PMC5877783

Abstract Article

Select item 55043479.

The E3 ubiquitin ligase and RNA-binding protein ZNF598 orchestrates ribosome quality control of premature polyadenylated mRNAs

Aitor Garzia, Seyed Mehdi Jafarnejad, Cindy Meyer, Clément Chapat, Tasos Gogakos, Pavel Morozov, Mehdi Amiri, Maayan Shapiro, Henrik Molina, Thomas Tuschl, Nahum Sonenberg

Nat Commun. 2017; 8: 16056. Published online 2017 Jul 7. doi: 10.1038/ncomms16056

PMCID:: PMC5504347

Abstract Article PDF–1.4M

Select item 992246810.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Abstract Article PDF–4.9M

Select item 638658811.

The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2

Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari

Mol Cell. Author manuscript; available in PMC 2020 Feb 21.

Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001

PMCID:: PMC6386588

Abstract Article PDF–1.7M

Select item 40369712.

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

Select item 926261413.

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 1015161514.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 742732715.

Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases

Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger

Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001

PMCID:: PMC7427327

Abstract Article

Select item 616668216.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 816503017.

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