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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 99578102.

KRIT1-mediated regulation of neutrophil adhesion and motility

Nicholas Nobiletti, Jing Liu, Angela J. Glading

FEBS J. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: FEBS J. 2023 Feb; 290(4): 1078–1095. Published online 2022 Sep 20. doi: 10.1111/febs.16627

PMCID:: PMC9957810

Abstract Article PDF–1.7M

Select item 97582763.

Circulating plasma miRNA homologs in mice and humans reflect familial cerebral cavernous malformation disease

Sharbel G. Romanos, Abhinav Srinath, Ying Li, Bingqing Xie, Chang Chen, Yan Li, Thomas Moore, Dehua Bi, Je Yeong Sone, Rhonda Lightle, Nick Hobson, Dongdong Zhang, Janne Koskimäki, Le Shen, Sara McCurdy, Catherine Chinhchu Lai, Agnieszka Stadnik, Kristina Piedad, Julián Carrión-Penagos, Abdallah Shkoukani, Daniel Snellings, Robert Shenkar, Dinanath Sulakhe, Yuan Ji, Miguel A. Lopez-Ramirez, Mark L. Kahn, Douglas A. Marchuk, Mark H. Ginsberg, Romuald Girard, Issam A. Awad

Transl Stroke Res. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Transl Stroke Res. 2023 Aug; 14(4): 513–529. Published online 2022 Jun 17. doi: 10.1007/s12975-022-01050-3

PMCID:: PMC9758276

Abstract Article PDF–1.3M

Select item 97133774.

Role of pericytes in the development of cerebral cavernous malformations

Zifeng Dai, Jingwei Li, Ying Li, Rui Wang, Huili Yan, Ziyu Xiong, Shiting Wu, Xi Yang, Dongbo Lu, Dongdong Zhang, Guofu Li, Yuwen Wang, Chunyang Men, Wenzhong Du, Xiangjian Zheng, Changbin Shi

iScience. 2022 Dec 22; 25(12): 105642. Published online 2022 Nov 19. doi: 10.1016/j.isci.2022.105642

PMCID:: PMC9713377

Abstract Article PDF–8.5M

Select item 96743785.

β1 Integrin Monoclonal Antibody Treatment Ameliorates Cerebral Cavernous Malformations

Sara McCurdy, Jenny Lin, Robert Shenkar, Thomas Moore, Rhonda Lightle, Eva Faurobert, Miguel-Alejandro Lopez-Ramirez, Issam Awad, Mark H. Ginsberg

FASEB J. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: FASEB J. 2022 Dec; 36(12): e22629. doi: 10.1096/fj.202200907RR

PMCID:: PMC9674378

Abstract Article PDF–2.6M

Select item 95701136.

Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress

Raffaella Mastrocola, Eleonora Aimaretti, Gustavo Ferreira Alves, Alessia Sofia Cento, Claudia Fornelli, Federica Dal Bello, Chiara Ferraris, Luca Goitre, Andrea Perrelli, Saverio Francesco Retta

Int J Mol Sci. 2022 Oct; 23(19): 11151. Published online 2022 Sep 22. doi: 10.3390/ijms231911151

PMCID:: PMC9570113

Abstract Article PDF–4.3M

Select item 82625047.

Pdcd10-Stk24/25 complex controls kidney water reabsorption by regulating Aqp2 membrane targeting

Rui Wang, Shi-Ting Wu, Xi Yang, Yude Qian, Jaesung P. Choi, Rui Gao, Siliang Song, Yixuan Wang, Tao Zhuang, Justin J.L. Wong, Yuzhen Zhang, Zhiming Han, Hua A. Lu, Stephen I. Alexander, Renjing Liu, Yin Xia, Xiangjian Zheng

JCI Insight. 2021 Jun 22; 6(12): e142838. Published online 2021 Jun 22. doi: 10.1172/jci.insight.142838

PMCID:: PMC8262504

Abstract Article PDF–6.9M

Select item 75373948.

Cerebral cavernous malformations are driven by ADAMTS5 proteolysis of versican

Courtney C. Hong, Alan T. Tang, Matthew R. Detter, Jaesung P. Choi, Rui Wang, Xi Yang, Andrea A. Guerrero, Carl F. Wittig, Nicholas Hobson, Romuald Girard, Rhonda Lightle, Thomas Moore, Robert Shenkar, Sean P. Polster, Lauren M. Goddard, Aileen A. Ren, N. Adrian Leu, Stephanie Sterling, Jisheng Yang, Li Li, Mei Chen, Patricia Mericko-Ishizuka, Lukas E. Dow, Hideto Watanabe, Markus Schwaninger, Wang Min, Douglas A. Marchuk, Xiangjian Zheng, Issam A. Awad, Mark L. Kahn

J Exp Med. 2020 Oct 5; 217(10): e20200140. Published online 2020 Jul 10. doi: 10.1084/jem.20200140

PMCID:: PMC7537394

Abstract Article PDF–7.2M

Select item 72994069.

Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice

Jia Li, Yang Zhao, Jaesung Choi, Ka Ka Ting, Paul Coleman, Jinbiao Chen, Victoria C. Cogger, Li Wan, Zhongsong Shi, Thorleif Moller, Xiangjian Zheng, Mathew A. Vadas, Jennifer R. Gamble

PLoS Biol. 2020 Jun; 18(6): e3000734. Published online 2020 Jun 5. doi: 10.1371/journal.pbio.3000734

PMCID:: PMC7299406

Abstract Article PDF–3.1M

Select item 693777910.

Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation

Alan T. Tang, Katie R. Sullivan, Courtney C. Hong, Lauren M. Goddard, Aparna Mahadevan, Aileen Ren, Heidy Pardo, Amy Peiper, Erin Griffin, Ceylan Tanes, Lisa M. Mattei, Jisheng Yang, Li Li, Patricia Mericko-Ishizuka, Le Shen, Nicholas Hobson, Romuald Girard, Rhonda Lightle, Thomas Moore, Robert Shenkar, Sean P. Polster, Claudia J. Roedel, Ning Li, Qin Zhu, Kevin J. Whitehead, Xiangjian Zheng, Amy Akers, Leslie Morrison, Helen Kim, Kyle Bittinger, Christopher J. Lengner, Markus Schwaninger, Anna Velcich, Leonard Augenlicht, Salim Abdelilah-Seyfried, Wang Min, Douglas A. Marchuk, Issam A. Awad, Mark L. Kahn

Sci Transl Med. Author manuscript; available in PMC 2019 Dec 31.

Published in final edited form as: Sci Transl Med. 2019 Nov 27; 11(520): eaaw3521. doi: 10.1126/scitranslmed.aaw3521

PMCID:: PMC6937779

Abstract Article PDF–3.6M

Select item 693340111.

VEGF signalling enhances lesion burden in KRIT1 deficient mice

Peter V. DiStefano, Angela J. Glading

J Cell Mol Med. 2020 Jan; 24(1): 632–639. Published online 2019 Nov 20. doi: 10.1111/jcmm.14773

PMCID:: PMC6933401

Abstract Article PDF–902K

Select item 680178312.

KRIT1 Deficiency Promotes Aortic Endothelial Dysfunction

Francesco Vieceli Dalla Sega, Raffaella Mastrocola, Giorgio Aquila, Francesca Fortini, Claudia Fornelli, Alessia Zotta, Alessia S. Cento, Andrea Perrelli, Enrica Boda, Antonio Pannuti, Saverio Marchi, Paolo Pinton, Roberto Ferrari, Paola Rizzo, Saverio Francesco Retta

Int J Mol Sci. 2019 Oct; 20(19): 4930. Published online 2019 Oct 5. doi: 10.3390/ijms20194930

PMCID:: PMC6801783

Abstract Article PDF–2.4M

Select item 669277013.

Hdac4 Interactions in Huntington's Disease Viewed Through the Prism of Multiomics

Joel D. Federspiel, Todd M. Greco, Krystal K. Lum, Ileana M. Cristea

Mol Cell Proteomics. 2019 Aug 9; 18(8 Suppl 1): S92–S113. Published online 2019 Apr 30. doi: 10.1074/mcp.RA118.001253

PMCID:: PMC6692770

Abstract Article PDF–7.7M

Select item 641377514.

Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes

Janne Koskimäki, Romuald Girard, Yan Li, Laleh Saadat, Hussein A. Zeineddine, Rhonda Lightle, Thomas Moore, Seán Lyne, Kenneth Avner, Robert Shenkar, Ying Cao, Changbin Shi, Sean P. Polster, Dongdong Zhang, Julián Carrión-Penagos, Sharbel Romanos, Gregory Fonseca, Miguel A. Lopez-Ramirez, Eric M. Chapman, Evelyn Popiel, Alan T. Tang, Amy Akers, Pieter Faber, Jorge Andrade, Mark Ginsberg, W. Brent Derry, Mark L. Kahn, Douglas A. Marchuk, Issam A. Awad

JCI Insight. 2019 Feb 7; 4(3): e126167. Published online 2019 Feb 7. doi: 10.1172/jci.insight.126167

PMCID:: PMC6413775

Abstract Article PDF–4.6M

Select item 633787915.

Cerebral cavernous malformations form an anticoagulant vascular domain in humans and mice

Miguel Alejandro Lopez-Ramirez, Angela Pham, Romuald Girard, Tine Wyseure, Preston Hale, Atsuki Yamashita, Janne Koskimäki, Sean Polster, Laleh Saadat, Ignacio A. Romero, Charles T. Esmon, Frederic Lagarrigue, Issam A. Awad, Laurent O. Mosnier, Mark H. Ginsberg

Blood. 2019 Jan 17; 133(3): 193–204. Prepublished online 2018 Nov 15. doi: 10.1182/blood-2018-06-856062

PMCID:: PMC6337879

Abstract Article

Select item 580663116.

KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease

Cinzia Antognelli, Eliana Trapani, Simona Delle Monache, Andrea Perrelli, Martina Daga, Stefania Pizzimenti, Giuseppina Barrera, Paola Cassoni, Adriano Angelucci, Lorenza Trabalzini, Vincenzo Nicola Talesa, Luca Goitre, Saverio Francesco Retta

Free Radic Biol Med. 2018 Feb 1; 115: 202–218. doi: 10.1016/j.freeradbiomed.2017.11.014

PMCID:: PMC5806631

Abstract Article

Select item 575786617.

Endothelial TLR4 and the microbiome drive cerebral cavernous malformations

Alan T. Tang, Jaesung P. Choi, Jonathan J. Kotzin, Yiqing Yang, Courtney C. Hong, Nicholas Hobson, Romuald Girard, Hussein A. Zeineddine, Rhonda Lightle, Thomas Moore, Ying Cao, Robert Shenkar, Mei Chen, Patricia Mericko, Jisheng Yang, Li Li, Ceylan Tanes, Dmytro Kobuley, Urmo Võsa, Kevin J. Whitehead, Dean Y. Li, Lude Franke, Blaine Hart, Markus Schwaninger, Jorge Henao-Mejia, Leslie Morrison, Helen Kim, Issam A. Awad, Xiangjian Zheng, Mark L. Kahn

Nature. Author manuscript; available in PMC 2018 Jan 8.

Published in final edited form as: Nature. 2017 May 18; 545(7654): 305–310. Published online 2017 May 10. doi: 10.1038/nature22075

PMCID:: PMC5757866

Abstract Article PDF–5.1M

Select item 567916318.

Thrombospondin1 (TSP1) replacement prevents cerebral cavernous malformations

Miguel Alejandro Lopez-Ramirez, Gregory Fonseca, Hussein A. Zeineddine, Romuald Girard, Thomas Moore, Angela Pham, Ying Cao, Robert Shenkar, Bart-Jan de Kreuk, Frederic Lagarrigue, Jack Lawler, Christopher K. Glass, Issam A. Awad, Mark H. Ginsberg

J Exp Med. 2017 Nov 6; 214(11): 3331–3346. doi: 10.1084/jem.20171178

PMCID:: PMC5679163

Abstract Article PDF–2.5M

Select item 555800019.

Up-regulation of NADPH oxidase-mediated redox signaling contributes to the loss of barrier function in KRIT1 deficient endothelium

Luca Goitre, Peter V. DiStefano, Andrea Moglia, Nicholas Nobiletti, Eva Baldini, Lorenza Trabalzini, Julie Keubel, Eliana Trapani, Vladimir V. Shuvaev, Vladimir R. Muzykantov, Ingrid H. Sarelius, Saverio Francesco Retta, Angela J. Glading

Sci Rep. 2017; 7: 8296. Published online 2017 Aug 15. doi: 10.1038/s41598-017-08373-4

PMCID:: PMC5558000

Abstract Article PDF–2.8M

Select item 529582120.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

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