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Select item 110262891.

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

Esmat Karimi, Jochen Gohlke, Mila van der Borgh, Johan Lindqvist, Zaynab Hourani, Justin Kolb, Stacy Cossette, Michael W. Lawlor, Coen Ottenheijm, Henk Granzier

Acta Neuropathol. 2024; 147(1): 72. Published online 2024 Apr 18. doi: 10.1007/s00401-024-02726-w

PMCID:: PMC11026289

Abstract Article PDF–4.4M

Select item 105658762.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 102374223.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 99224684.

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 83641815.

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

Abstract Article PDF–3.0M

Select item 83071946.

Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation

Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee

Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572

PMCID:: PMC8307194

Abstract Article PDF–2.8M

Select item 81650307.

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

Abstract Article PDF–2.2M

Select item 79358528.

Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study

Kyung Jae Yoon, Youbin Yi, Jong Geol Do, Hyung-Lae Kim, Yong-Taek Lee, Han-Na Kim

Sci Rep. 2021; 11: 2333. Published online 2021 Mar 5. doi: 10.1038/s41598-021-82003-y

PMCID:: PMC7935852

Abstract Article PDF–3.1M

Select item 72412159.

Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice

Haoyong Wang, Xiaoyue Nie, Xin Li, Yi Fang, Dandan Wang, William Wang, Yong Hu, Zijing Liu, Cheng Cao

Med Sci Monit. 2020; 26: e922953-1–e922953-9. Prepublished online 2020 May 4. Published online 2020 May 11. doi: 10.12659/MSM.922953

PMCID:: PMC7241215

Abstract Article PDF–1.1M

Select item 704505810.

Novel candidate genes putatively involved in stress fracture predisposition detected by whole-exome sequencing

EITAN FRIEDMAN, DANIEL S. MORAN, DANNY BEN-AVRAHAM, RAN YANOVICH, GIL ATZMON

Genet Res (Camb) 2014; 96: e004. Published online 2014 May 28. doi: 10.1017/S001667231400007X

PMCID:: PMC7045058

Abstract Article PDF–424K

Select item 664416411.

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy

Caroline Jirka, Jasmine H Pak, Claire A Grosgogeat, Michael Mario Marchetii, Vandana A Gupta

Hum Mol Genet. 2019 Aug 1; 28(15): 2549–2560. Published online 2019 Apr 15. doi: 10.1093/hmg/ddz078

PMCID:: PMC6644164

Abstract Article PDF–18M

Select item 660091512.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Abstract Article PDF–1.7M

Select item 628128413.

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J. Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V. Cervera, Jose M. Millan, Laia Pedrola

PLoS One. 2018; 13(12): e0207296. Published online 2018 Dec 5. doi: 10.1371/journal.pone.0207296

PMCID:: PMC6281284

Abstract Article PDF–1.1M

Select item 620072614.

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

Le Thanh Lam, Ian Holt, Jenni Laitila, Mubashir Hanif, Katarina Pelin, Carina Wallgren-Pettersson, Caroline A. Sewry, Glenn E. Morris

Sci Rep. 2018; 8: 15728. Published online 2018 Oct 24. doi: 10.1038/s41598-018-33281-6

PMCID:: PMC6200726

Abstract Article PDF–4.1M

Select item 616668215.

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 603073016.

AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation

Julia Hülsmann, Bojana Kravic, Matthias Weith, Matthias Gstaiger, Ruedi Aebersold, Ben C. Collins, Hemmo Meyer

Mol Cell Proteomics. 2018 Jul; 17(7): 1295–1307. Published online 2018 Mar 29. doi: 10.1074/mcp.RA117.000471

PMCID:: PMC6030730

Abstract Article PDF–3.8M

Select item 583609717.

FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration

Ella Fung, Carmen Richter, Hong‐Bin Yang, Isabell Schäffer, Roman Fischer, Benedikt M Kessler, Florian Bassermann, Vincenzo D'Angiolella

EMBO Rep. 2018 Mar; 19(3): e44799. Published online 2018 Jan 18. doi: 10.15252/embr.201744799

PMCID:: PMC5836097

Abstract Article PDF–1.9M

Select item 553161118.

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 539513219.

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing

Xiangrong Min, Haiying Fan, Guiqiu Zhao, Guixiang Liu

Med Sci Monit. 2017; 23: 1719–1724. Published online 2017 Apr 9. doi: 10.12659/MSM.902823

PMCID:: PMC5395132

Abstract Article PDF–409K

Select item 492988320.

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array

Kirsi Kiiski, Vilma-Lotta Lehtokari, Ari Löytynoja, Liina Ahlstén, Jenni Laitila, Carina Wallgren-Pettersson, Katarina Pelin

Eur J Hum Genet. 2016 Apr; 24(4): 574–580. Published online 2015 Jul 22. doi: 10.1038/ejhg.2015.166

PMCID:: PMC4929883

Abstract Article PDF–1.4M

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