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Select item 99406581.

Genetic genealogy uncovers a founder deletion mutation in the Cerebral Cavernous Malformations 2 gene

Carol J. Gallione, Matthew R. Detter, Adrienne Sheline, Henrietta M. Christmas, Cornelia Lee, Douglas A. Marchuk

Hum Genet. Author manuscript; available in PMC 2023 Feb 20.

Published in final edited form as: Hum Genet. 2022 Nov; 141(11): 1761–1769. Published online 2022 Apr 30. doi: 10.1007/s00439-022-02458-5

PMCID:: PMC9940658

Article PDF–364K

Select item 33709102.

Crystallization and preliminary X-ray analysis of the C-terminal domain of CCM2, part of a novel adaptor protein involved in cerebral cavernous malformations

Xiaoyan Wang, Jingjin Ding, Dacheng Wang

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Jun 1; 68(Pt 6): 683–686. Published online 2012 May 23. doi: 10.1107/S1744309112016181

PMCID:: PMC3370910

Article PDF–583K

Select item 31323033.

A founder mutation in the Ashkenazi Jewish population affecting mRNA splicing of the CCM2 gene is associated with Cerebral Cavernous Malformations: Ashkenazi Jewish founder mutation in CCM

Carol J. Gallione, Ann Solatycki, Issam A. Awad, James L. Weber, Douglas A. Marchuk

Genet Med. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Genet Med. 2011 Jul; 13(7): 662–666. doi: 10.1097/GIM.0b013e318211ff8b

PMCID:: PMC3132303

Article PDF–526K

Select item 11804094.

Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

Christina L. Liquori, Michel J. Berg, Adrian M. Siegel, Elizabeth Huang, Jon S. Zawistowski, T’Prien Stoffer, Dominique Verlaan, Fiyinfolu Balogun, Lori Hughes, Tracey P. Leedom, Nicholas W. Plummer, Milena Cannella, Vittorio Maglione, Ferdinando Squitieri, Eric W. Johnson, Guy A. Rouleau, Louis Ptacek, Douglas A. Marchuk

Am J Hum Genet. 2003 Dec; 73(6): 1459–1464. Published online 2003 Nov 17. doi: 10.1086/380314

PMCID:: PMC1180409

Article PDF–252K

Select item 67120185.

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan

Chun-Wei Chang, Peng-Wei Hsu, Kuo-Chen Wei, Chia-Wen Chang, Hon-Chung Fung, Mo-Song Hsih, Wen-Chuin Hsu, Long-Sun Ro, Chen-Nen Chang, Jiun-Jie Wang, Yih-Ru Wu, Sien-Tsong Chen

Sci Rep. 2019; 9: 12387. Published online 2019 Aug 27. doi: 10.1038/s41598-019-48448-y

PMCID:: PMC6712018

Article PDF–2.0M

Select item 43847326.

CCM2–CCM3 interaction stabilizes their protein expression and permits endothelial network formation

Kyle M. Draheim, Xiaofeng Li, Rong Zhang, Oriana S. Fisher, Giulia Villari, Titus J. Boggon, David A. Calderwood

J Cell Biol. 2015 Mar 30; 208(7): 987–1001. doi: 10.1083/jcb.201407129

PMCID:: PMC4384732

Article PDF–3.2M

Select item 43170347.

Structural Basis for the Disruption of the Cerebral Cavernous Malformations 2 (CCM2) Interaction with Krev Interaction Trapped 1 (KRIT1) by Disease-associated Mutations

Oriana S. Fisher, Weizhi Liu, Rong Zhang, Amy L. Stiegler, Sondhya Ghedia, James L. Weber, Titus J. Boggon

J Biol Chem. 2015 Jan 30; 290(5): 2842–2853. Published online 2014 Dec 18. doi: 10.1074/jbc.M114.616433

PMCID:: PMC4317034

Article PDF–2.8M

Select item 40063218.

Cerebral cavernous malformations arise independent of the Heart of Glass receptor

Xiangjian Zheng, Florence Riant, Françoise Bergametti, Cynthia D Myers, Alan T Tang, Benjamin Kleaveland, Wei Pan, Jisheng Yang, Elisabeth Tournier-Lasserve, Mark L. Kahn

Stroke. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Stroke. 2014 May; 45(5): 1505–1509. Published online 2014 Mar 18. doi: 10.1161/STROKEAHA.114.004809

PMCID:: PMC4006321

Article PDF–1.0M

Select item 35585389.

Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus

Oriana S. Fisher, Rong Zhang, Xiaofeng Li, James W. Murphy, Borries Demeler, Titus J. Boggon

FEBS Lett. Author manuscript; available in PMC 2014 Jan 31.

Published in final edited form as: FEBS Lett. 2013 Jan 31; 587(3): 272–277. Published online 2012 Dec 22. doi: 10.1016/j.febslet.2012.12.011

PMCID:: PMC3558538

Article PDF–3.6M

Select item 178531710.

Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations

Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Tracey P. Leedom, Louis Ptacek, Eric W. Johnson, Douglas A. Marchuk

Am J Hum Genet. 2007 Jan; 80(1): 69–75. Published online 2006 Nov 14. doi: 10.1086/510439

PMCID:: PMC1785317

Article PDF–513K

Select item 118193011.

Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations

C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A. Cousin, A. L. Benabid, J. Comoy, P. Frerebeau, B. Gilbert, J. P. Houtteville, M. Jan, F. Lapierre, H. Loiseau, P. Menei, P. Mercier, J. J. Moreau, A. Nivelon-Chevallier, F. Parker, A. M. Redondo, J. M. Scarabin, M. Tremoulet, M. Zerah, J. Maciazek, E. Tournier-Lasserve, Société Française de Neurochirurgie

Am J Hum Genet. 2004 Feb; 74(2): 326–337. Published online 2004 Jan 22. doi: 10.1086/381718

PMCID:: PMC1181930

Article PDF–511K

Select item 809425612.

Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation

Rosalia D'Angelo, Valeria Marini, Carmela Rinaldi, Paola Origone, Alessandra Dorcaratto, Maria Avolio, Luca Goitre, Marco Forni, Valeria Capra, Concetta Alafaci, Cristina Mareni, Cecilia Garrè, Placido Bramanti, Antonina Sidoti, Saverio Francesco Retta, Aldo Amato

Brain Pathol. 2011 Mar; 21(2): 215–224. Published online 2010 Oct 4. doi: 10.1111/j.1750-3639.2010.00441.x

Correction in:: Brain Pathol. 2011 May; 21(3): 360.

PMCID:: PMC8094256

Article PDF–1.2M

Select item 474167713.

The cerebral cavernous malformations proteins

Xiaofeng Li, Oriana S. Fisher, Titus J. Boggon

Oncotarget. 2015 Oct 20; 6(32): 32279–32280. Published online 2015 Aug 31. doi: 10.18632/oncotarget.5443

PMCID:: PMC4741677

Article PDF–802K

Select item 390051314.

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Ángel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas

PLoS One. 2014; 9(1): e86286. Published online 2014 Jan 23. doi: 10.1371/journal.pone.0086286

PMCID:: PMC3900513

Article PDF–773K

Select item 376660515.

Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients

Rosalia D'Angelo, Concetta Alafaci, Concetta Scimone, Alessia Ruggeri, Francesco Maria Salpietro, Placido Bramanti, Francesco Tomasello, Antonina Sidoti

Biomed Res Int. 2013; 2013: 459253. Published online 2013 Aug 22. doi: 10.1155/2013/459253