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Items: 1 to 20 of 48

1.
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli
Hum Genomics. 2024; 18: 29. Published online 2024 Mar 22. doi: 10.1186/s40246-024-00600-0
PMCID:
PMC10960460
AbstractArticlePDF–1.9M
2.
The landscape of SETBP1 gene expression and transcription factor activity across human tissues
Jordan H. Whitlock, Elizabeth J. Wilk, Timothy C. Howton, Amanda D. Clark, Brittany N. Lasseigne
PLoS One. 2024; 19(1): e0296328. Published online 2024 Jan 2. doi: 10.1371/journal.pone.0296328
PMCID:
PMC10760659
AbstractArticlePDF–2.0M
3.
Novel SETBP1 mutation in a chinese family with intellectual disability
Le Wang, Xu-Dong Wang, Bo Yang, Xue-Meng Wang, Yu-Qian Peng, Hang-Jing Tan, Hong-Mei Xiao
BMC Med Genomics. 2023; 16: 233. Published online 2023 Oct 5. doi: 10.1186/s12920-023-01649-x
PMCID:
PMC10552191
AbstractArticlePDF–1.0M
4.
SETBP1 mutation determines sensitivity to immune checkpoint inhibitors in melanoma and NSCLC
Fengxiao An, Wenjing Zhang, Yuxian Guo, Fuyan Shi, Yujia Kong, Liguo Tang, Caijing Han, Qinghua Wang
Aging (Albany NY) 2023 Aug 15; 15(15): 7476–7495. Published online 2023 Aug 2. doi: 10.18632/aging.204913
PMCID:
PMC10457048
AbstractArticlePDF–2.7M
5.
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
Hongdan Wang, Yue Gao, Litao Qin, Mengting Zhang, Weili Shi, Zhanqi Feng, Liangjie Guo, Bofeng Zhu, Shixiu Liao
Orphanet J Rare Dis. 2023; 18: 107. Published online 2023 May 7. doi: 10.1186/s13023-023-02705-6
PMCID:
PMC10165755
AbstractArticlePDF–13M
6.
Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder
Lucia F. Cardo, Daniel C. de la Fuente, Meng Li
Mol Autism. 2023; 14: 8. Published online 2023 Feb 20. doi: 10.1186/s13229-023-00540-x
PMCID:
PMC9940404
AbstractArticlePDF–13M
7.
Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
Yaqing Zhou, Yan Quan, Yijun Wu, Yinxing Zhang
J Int Med Res. 2022 Sep; 50(9): 03000605221121955. Published online 2022 Sep 13. doi: 10.1177/03000605221121955
PMCID:
PMC9478714
AbstractArticlePDF–515K
8.
Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome
Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson
Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584
PMCID:
PMC8769072
AbstractArticlePDF–2.9M
9.
Recruitment of MLL1 complex is essential for SETBP1 to induce myeloid transformation
Nhu Nguyen, Kristbjorn O. Gudmundsson, Anthony R. Soltis, Kevin Oakley, Kartik R. Roy, Yufen Han, Carmelo Gurnari, Jaroslaw P. Maciejewski, Gary Crouch, Patricia Ernst, Clifton L. Dalgard, Yang Du
iScience. 2022 Jan 21; 25(1): 103679. Published online 2021 Dec 25. doi: 10.1016/j.isci.2021.103679
PMCID:
PMC8749219
AbstractArticlePDF–3.6M
10.
Mutant SETBP1 enhances NRAS-driven MAPK pathway activation to promote aggressive leukemia
Sarah A. Carratt, Theodore P. Braun, Cody Coblentz, Zachary Schonrock, Rowan Callahan, Brittany M. Curtiss, Lauren Maloney, Amy C. Foley, Julia E. Maxson
Leukemia. Author manuscript; available in PMC 2022 Jun 1.
Published in final edited form as: Leukemia. 2021 Dec; 35(12): 3594–3599. Published online 2021 May 17. doi: 10.1038/s41375-021-01278-2
Correction in:
Leukemia. 2022 Jul 6
PMCID:
PMC8595361
AbstractArticlePDF–1.2M
11.
Clinical delineation of SETBP1 haploinsufficiency disorder
Nadieh A. Jansen, Ruth O. Braden, Siddharth Srivastava, Erin F. Otness, Gaetan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael A. Bernier, Chloé Quelin, Arie van Haeringen, Tjitske Kleefstra, Maggie M. K. Wong, Sandra Whalen, Simon E. Fisher, Angela T. Morgan, Bregje W. van Bon
Eur J Hum Genet. 2021 Aug; 29(8): 1198–1205. Published online 2021 Apr 19. doi: 10.1038/s41431-021-00888-9
PMCID:
PMC8385049
AbstractArticlePDF–1.5M
12.
Speech and language deficits are central to SETBP1 haploinsufficiency disorder
Angela Morgan, Ruth Braden, Maggie M. K. Wong, Estelle Colin, David Amor, Frederique Liégeois, Siddharth Srivastava, Adam Vogel, Varoona Bizaoui, Kara Ranguin, Simon E. Fisher, Bregje W. van Bon
Eur J Hum Genet. 2021 Aug; 29(8): 1216–1225. Published online 2021 Apr 27. doi: 10.1038/s41431-021-00894-x
PMCID:
PMC8384874
AbstractArticlePDF–1.0M
13.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
14.
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
Federica Banfi, Alicia Rubio, Mattia Zaghi, Luca Massimino, Giulia Fagnocchi, Edoardo Bellini, Mirko Luoni, Cinzia Cancellieri, Anna Bagliani, Chiara Di Resta, Camilla Maffezzini, Angelo Ianielli, Maurizio Ferrari, Rocco Piazza, Luca Mologni, Vania Broccoli, Alessandro Sessa
Nat Commun. 2021; 12: 4050. Published online 2021 Jun 30. doi: 10.1038/s41467-021-24391-3
PMCID:
PMC8245514
AbstractArticlePDF–6.5M
15.
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
AbstractArticlePDF–5.4M
16.
Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation
Meaghan Perdue, Sara Mascheretti, Sergey A. Kornilov, Kaja K. Jasinska, Kayleigh Ryherd, W. Einar Mencl, Stephen J. Frost, Elena L. Grigorenko, Kenneth R. Pugh, Nicole Landi
Neuropsychologia. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: Neuropsychologia. 2019 Jul; 130: 44–51. Published online 2018 Aug 23. doi: 10.1016/j.neuropsychologia.2018.07.015
PMCID:
PMC6542718
AbstractArticlePDF–500K
17.
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
AbstractArticlePDF–3.8M
18.
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub
Rocco Piazza, Vera Magistroni, Sara Redaelli, Mario Mauri, Luca Massimino, Alessandro Sessa, Marco Peronaci, Maciej Lalowski, Rabah Soliymani, Caterina Mezzatesta, Alessandra Pirola, Federica Banfi, Alicia Rubio, Delphine Rea, Fabio Stagno, Emilio Usala, Bruno Martino, Leonardo Campiotti, Michele Merli, Francesco Passamonti, Francesco Onida, Alessandro Morotti, Francesca Pavesi, Marco Bregni, Vania Broccoli, Marc Baumann, Carlo Gambacorti-Passerini
Nat Commun. 2018; 9: 2192. Published online 2018 Jun 6. doi: 10.1038/s41467-018-04462-8
PMCID:
PMC5989213
AbstractArticlePDF–3.4M
19.
CIP2A- and SETBP1-mediated PP2A inhibition reveals AKT S473 phosphorylation to be a new biomarker in AML
Claire M. Lucas, Laura J. Scott, Natasha Carmell, Alison K. Holcroft, Robert K. Hills, Alan K. Burnett, Richard E. Clark
Blood Adv. 2018 May 8; 2(9): 964–968. Published online 2018 Apr 27. doi: 10.1182/bloodadvances.2017013615
PMCID:
PMC5941996
AbstractArticlePDF–797K
20.
ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest
Aya Noguchi, Shungo Adachi, Naoto Yokota, Tomohisa Hatta, Tohru Natsume, Hiroyuki Kawahara
Biol Open. 2018 Mar 15; 7(3): bio031575. Published online 2018 Feb 15. doi: 10.1242/bio.031575
PMCID:
PMC5898266
AbstractArticlePDF–3.4M

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