PMC Articles for MedGen (Select 1794201) - PMC

Jaesung P. Choi, Rui Wang, Xi Yang, Xian Wang, Lu Wang, Ka Ka Ting, Matthew Foley, Victoria Cogger, Zhuo Yang, Feng Liu, Zhiming Han, Renjing Liu, Jonathan Baell, Xiangjian Zheng

Sci Adv. 2018 Nov; 4(11): eaau0731. Published online 2018 Nov 7. doi: 10.1126/sciadv.aau0731

PMCID:: PMC6221540

Abstract Article PDF–1.7M

Select item 105992324.

The mTORC1 inhibitor Rapamycin inhibits growth of cerebral cavernous malformation in adult mice

Lun Li, Aileen A. Ren, Siqi Gao, Yourong S. Su, Jisheng Yang, Jenna Bockman, Patricia Mericko-Ishizuka, Joanna Griffin, Robert Shenkar, Roberto Alcazar, Thomas Moore, Rhonda Lightle, Dorothy DeBiasse, Issam A. Awad, Douglas A. Marchuk, Mark L. Kahn, Jan-Karl Burkhardt

Stroke. Author manuscript; available in PMC 2024 Nov 1.

Published in final edited form as: Stroke. 2023 Nov; 54(11): 2906–2917. Published online 2023 Sep 25. doi: 10.1161/STROKEAHA.123.044108

PMCID:: PMC10599232

Abstract Article PDF–2.8M

Select item 57856435.

Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1

Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio

J Clin Res Pediatr Endocrinol. 2017 Dec; 9(4): 355–359. Published online 2017 Dec 15. doi: 10.4274/jcrpe.4324

PMCID:: PMC5785643

Abstract Article PDF–637K

Select item 57578666.

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 56791637.

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 55580008.

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 53633809.

A novel CCM2 variant in a family with non‐progressive cognitive complaints and cerebral microbleeds

Petra E. Cohn‐Hokke, Henne Holstege, Marjan M. Weiss, Wiesje M. van der Flier, Frederik Barkhof, Erik A. Sistermans, Yolande A. L. Pijnenburg, John C. van Swieten, Hanne Meijers‐Heijboer, Philip Scheltens

Am J Med Genet B Neuropsychiatr Genet. 2017 Apr; 174(3): 220–226. Published online 2016 Jun 8. doi: 10.1002/ajmg.b.32468

PMCID:: PMC5363380

Abstract Article PDF–262K

Select item 465172110.

Structural analysis of the KRIT1 ankyrin repeat and FERM domains reveals a conformationally stable ARD-FERM interface

Rong Zhang, Xiaofeng Li, Titus J. Boggon

J Struct Biol. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: J Struct Biol. 2015 Dec; 192(3): 449–456. Published online 2015 Oct 14. doi: 10.1016/j.jsb.2015.10.006

PMCID:: PMC4651721

Abstract Article PDF–1.6M

Select item 443381411.

Increased Number of White Matter Lesions in Patients with Familial Cerebral Cavernous Malformations

M.J. Golden, L.A. Morrison, H. Kim, B.L. Hart

AJNR Am J Neuroradiol. 2015 May; 36(5): 899–903. doi: 10.3174/ajnr.A4200

PMCID:: PMC4433814

Abstract Article PDF–426K

Select item 429757112.

Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity

Hélène Choquet, Ludmila Pawlikowska, Jeffrey Nelson, Charles E. McCulloch, Amy Akers, Beth Baca, Yasir Khan, Blaine Hart, Leslie Morrison, Helen Kim

Cerebrovasc Dis. Author manuscript; available in PMC 2015 Dec 3.

Published in final edited form as: Cerebrovasc Dis. 2014; 38(6): 433–440. Published online 2014 Dec 3. doi: 10.1159/000369200

PMCID:: PMC4297571

Abstract Article PDF–573K

Select item 620552013.

Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells

Matthew R. Detter, Daniel A. Snellings, Douglas A. Marchuk

Circ Res. Author manuscript; available in PMC 2019 Oct 26.

Published in final edited form as: Circ Res. 2018 Oct 26; 123(10): 1143–1151. doi: 10.1161/CIRCRESAHA.118.313970

PMCID:: PMC6205520

Abstract Article PDF–1.4M

Select item 392768514.

STRIPAK Complexes: structure, biological function, and involvement in human diseases

Juyeon Hwang, David C. Pallas

Int J Biochem Cell Biol. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Int J Biochem Cell Biol. 2014 Feb; 47: 118–148. Published online 2013 Dec 11. doi: 10.1016/j.biocel.2013.11.021

PMCID:: PMC3927685

Abstract Article PDF–1.1M

Select item 305692415.

Cellular localization and functional significance of CYP3A4 in the human epileptic brain

Chaitali Ghosh, Nicola Marchi, Nirav K. Desai, Vikram Puvenna, Mohammed Hossain, Jorge Gonzalez-Martinez, Andreas V. Alexopoulos, Damir Janigro

Epilepsia. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Epilepsia. 2011 Mar; 52(3): 562–571. Published online 2011 Feb 5. doi: 10.1111/j.1528-1167.2010.02956.x

PMCID:: PMC3056924

Abstract Article PDF–2.5M

Select item 292673316.

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

Lucia Anna Muscarella, Vito Guarnieri, Michelina Coco, Serena Belli, Paola Parrella, Giuseppe Pulcrano, Domenico Catapano, Vincenzo A. D'Angelo, Leopoldo Zelante, Leonardo D'Agruma

J Biomed Biotechnol. 2010; 2010: 854737. Published online 2010 Jul 27. doi: 10.1155/2010/854737

PMCID:: PMC2926733

Abstract Article PDF–853K

Select item 290920317.

Defining the Functional Domain of Programmed Cell Death 10 through Its Interactions with Phosphatidylinositol-3,4,5-Trisphosphate

Christopher F. Dibble, Jeremy A. Horst, Michael H. Malone, Kun Park, Brenda Temple, Holly Cheeseman, Justin R. Barbaro, Gary L. Johnson, Sompop Bencharit

PLoS One. 2010; 5(7): e11740. Published online 2010 Jul 23. doi: 10.1371/journal.pone.0011740

PMCID:: PMC2909203

Abstract Article PDF–3.2M

Select item 288968318.

Cutaneous Venous Malformations in Familial Cerebral Cavernomatosis Caused by KRIT1 Gene Mutations

Agustí Toll, Elisabet Parera, Ana M. Giménez-Arnau, Alejandro Pou, Josep Lloreta, Nisha Limaye, Miikka Vikkula, Ramon M. Pujol

Dermatology. 2009 Apr; 218(4): 307–313. Published online 2009 Jan 31. doi: 10.1159/000199461

PMCID:: PMC2889683

Abstract Article PDF–491K

Select item 285602419.

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

Rebecca A. Stockton, Robert Shenkar, Issam A. Awad, Mark H. Ginsberg

J Exp Med. 2010 Apr 12; 207(4): 881–896. doi: 10.1084/jem.20091258

PMCID:: PMC2856024

Abstract Article PDF–9.5M

Select item 282912520.

Cell-Nonautonomous Regulation of C. elegans Germ Cell Death by kri-1

Shu Ito, Sebastian Greiss, Anton Gartner, W. Brent Derry

Curr Biol. 2010 Feb 23; 20(4): 333–338. doi: 10.1016/j.cub.2009.12.032

PMCID:: PMC2829125

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