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Items: 1 to 20 of 61

1.
Can Hemorrhagic Stroke Genetics Help Forensic Diagnosis in Pediatric Age (<5 Years Old)?
Biancamaria Treves, Elena Sonnini, Raffaele La Russa, Fabio Del Duca, Alessandro Ghamlouch, Alessandra De Matteis, Claudia Trignano, Juan Antonio Marchal, Esmeralda Carrillo, Gabriele Napoletano, Aniello Maiese
Genes (Basel) 2024 May; 15(5): 618. Published online 2024 May 13. doi: 10.3390/genes15050618
PMCID:
PMC11120992
AbstractArticlePDF–1.0M
2.
Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas
Ran Huo, Yingxi Yang, Hongyuan Xu, Shaozhi Zhao, Dong Song, Jiancong Weng, Ruochen Ma, Yingfan Sun, Jie Wang, Yuming Jiao, Junze Zhang, Qiheng He, Ruolei Wu, Shuo Wang, Ji-Zong Zhao, Junting Zhang, Jiguang Wang, Yong Cao
Stroke Vasc Neurol. 2023 Dec; 8(6): 453–462. Published online 2023 Apr 18. doi: 10.1136/svn-2022-002227
PMCID:
PMC10800255
AbstractArticlePDF–2.9M
3.
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing
Li-Hsin Chang, Nai-Fang Chi, Chun-Yu Chen, Yung-Shuan Lin, Shao-Lun Hsu, Jui-Yao Tsai, Hui-Chi Huang, Chun-Jen Lin, Chih-Ping Chung, Chien-Yi Tung, Chung-Jiuan Jeng, Yi-Chung Lee, Yo-Tsen Liu, I-Hui Lee
Cell Mol Neurobiol. 2023; 43(6): 2769–2783. Published online 2022 Dec 29. doi: 10.1007/s10571-022-01315-3
PMCID:
PMC10333419
AbstractArticlePDF–4.1M
4.
MRI of mouse cerebral cavernomas reveal differential lesion progression and variable permeability to gadolinium
Delaney G. Fisher, Khadijeh A. Sharifi, E. Zeynep Ulutas, Jeyan S. Kumar, M. Yashar S. Kalani, G. Wilson Miller, Richard J. Price, Petr Tvrdik
Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2024 Jun 1.
Published in final edited form as: Arterioscler Thromb Vasc Biol. 2023 Jun; 43(6): 958–970. Published online 2023 Apr 20. doi: 10.1161/ATVBAHA.122.318938
PMCID:
PMC10257814
AbstractArticlePDF–2.3M
5.
Release of STK24/25 suppression on MEKK3 signaling in endothelial cells confers cerebral cavernous malformation
Xi Yang, Shi-Ting Wu, Rui Gao, Rui Wang, Yixuan Wang, Zhenkun Dong, Lu Wang, Chunxiao Qi, Xiaohong Wang, M. Lienhard Schmitz, Renjing Liu, Zhiming Han, Lu Wang, Xiangjian Zheng
JCI Insight. 2023 Mar 8; 8(5): e160372. Published online 2023 Mar 8. doi: 10.1172/jci.insight.160372
PMCID:
PMC10077477
AbstractArticlePDF–26M
6.
Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation
Shantel Weinsheimer, Jeffrey Nelson, Adib A. Abla, Nerissa U. Ko, Cynthia Tsang, Obiora Okoye, Joseph M. Zabramski, Amy Akers, Atif Zafar, Marc C. Mabray, Blaine L. Hart, Leslie Morrison, Charles E. McCulloch, Helen Kim, The Brain Vascular Malformation Consortium Cerebral Cavernous Malformation Investigator Group
J Am Heart Assoc. 2023 Feb 7; 12(3): e027572. Published online 2023 Jan 25. doi: 10.1161/JAHA.122.027572
PMCID:
PMC9973654
AbstractArticlePDF–684K
7.
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study
Ana Filipa Geraldo, Cesar Augusto P. F. Alves, Aysha Luis, Domenico Tortora, Joana Guimarães, Daisy Abreu, Sofia Reimão, Marco Pavanello, Patrizia de Marco, Marcello Scala, Valeria Capra, Rui Vaz, Andrea Rossi, Erin Simon Schwartz, Kshitij Mankad, Mariasavina Severino
Neuroradiology. 2023; 65(2): 401–414. Published online 2022 Oct 6. doi: 10.1007/s00234-022-03056-y
PMCID:
PMC9859903
AbstractArticlePDF–1.2M
8.
Dysregulated Hemostasis and Immunothrombosis in Cerebral Cavernous Malformations
Maria Ascencion Globisch, Favour Chinyere Onyeogaziri, Ross Osborne Smith, Maximiliano Arce, Peetra Ulrica Magnusson
Int J Mol Sci. 2022 Oct; 23(20): 12575. Published online 2022 Oct 20. doi: 10.3390/ijms232012575
PMCID:
PMC9604397
AbstractArticlePDF–1.0M
9.
The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile
Arnault Tauziède-Espariat, Thibaut Pierre, Michel Wassef, David Castel, Florence Riant, Jacques Grill, Alexandre Roux, Johan Pallud, Edouard Dezamis, Damien Bresson, Sandro Benichi, Thomas Blauwblomme, Djallel Benzohra, Guillaume Gauchotte, Celso Pouget, Sophie Colnat-Coulbois, Karima Mokhtari, Corinne Balleyguier, Frédérique Larousserie, Volodia Dangouloff-Ros, Nathalie Boddaert, Marie-Anne Debily, Lauren Hasty, Marc Polivka, Homa Adle-Biassette, Alice Métais, Emmanuèle Lechapt, Fabrice Chrétien, Felix Sahm, Philipp Sievers, Pascale Varlet, the RENOCLIP-LOC
Acta Neuropathol Commun. 2022; 10: 81. Published online 2022 May 31. doi: 10.1186/s40478-022-01384-x
PMCID:
PMC9153110
AbstractArticlePDF–1.7M
10.
Cerebral Cavernous Malformation Pathogenesis: Investigating Lesion Formation and Progression with Animal Models
Chelsea M. Phillips, Svetlana M. Stamatovic, Richard F. Keep, Anuska V. Andjelkovic
Int J Mol Sci. 2022 May; 23(9): 5000. Published online 2022 Apr 30. doi: 10.3390/ijms23095000
PMCID:
PMC9105545
AbstractArticlePDF–946K
11.
PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism
Aileen A. Ren, Daniel A. Snellings, Sophie Y. Su, Courtney C. Hong, Marco Castro, Alan T. Tang, Matthew R. Detter, Nicholas Hobson, Romuald Girard, Sharbel Romanos, Rhonda Lightle, Thomas Moore, Robert Shenkar, Christian Benavides, M. Makenzie Beaman, Helge Mueller-Fielitz, Mei Chen, Patricia Mericko, Jisheng Yang, Derek C. Sung, Michael T. Lawton, Michael Ruppert, Markus Schwaninger, Jakob Körbelin, Michael Potente, Issam A. Awad, Douglas A. Marchuk, Mark L. Kahn
Nature. Author manuscript; available in PMC 2021 Nov 26.
Published in final edited form as: Nature. 2021 Jun; 594(7862): 271–276. Published online 2021 Apr 28. doi: 10.1038/s41586-021-03562-8
PMCID:
PMC8626098
AbstractArticlePDF–6.4M
12.
Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation
Foram Choksi, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Christine K. Fox, Atif Zafar, Marc C. Mabray, Joseph Zabramski, Amy Akers, Blaine L. Hart, Leslie Morrison, Charles E. McCulloch, Helen Kim
Mol Genet Genomic Med. 2021 Oct; 9(10): e1794. Published online 2021 Sep 7. doi: 10.1002/mgg3.1794
PMCID:
PMC8580075
AbstractArticlePDF–464K
13.
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants
Claudia Ricci, Alfonso Cerase, Giulia Riolo, Giuditta Manasse, Stefania Battistini
J Mol Neurosci. 2021; 71(9): 1876–1883. Published online 2021 Mar 2. doi: 10.1007/s12031-021-01814-w
PMCID:
PMC8421287
AbstractArticlePDF–1.0M
14.
Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation
Athanasios K. Manole, Vernon J. Forrester, Barrett J. Zlotoff, Blaine L. Hart, Leslie A. Morrison
Am J Med Genet A. Author manuscript; available in PMC 2021 Jun 16.
Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1066–1072. Published online 2020 Feb 26. doi: 10.1002/ajmg.a.61519
PMCID:
PMC8208466
AbstractArticlePDF–899K
15.
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation
Jiancong Weng, Yingxi Yang, Dong Song, Ran Huo, Hao Li, Yiyun Chen, Yoonhee Nam, Qiuxia Zhou, Yuming Jiao, Weilun Fu, Zihan Yan, Jie Wang, Hongyuan Xu, Lin Di, Jie Li, Shuo Wang, Jizong Zhao, Jiguang Wang, Yong Cao
Am J Hum Genet. 2021 May 6; 108(5): 942–950. Published online 2021 Apr 22. doi: 10.1016/j.ajhg.2021.04.005
PMCID:
PMC8206158
AbstractArticlePDF–3.2M
16.
Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish
Jing Lin, Jie Liang, Jun Wen, Man Luo, Jiaoxing Li, Xunsha Sun, Xiaowei Xu, Jianli Li, Dongxian Wang, Jie Wang, Huimin Chen, Rong Lai, Fengyin Liang, Chuan Li, Fei Ye, Jingjing Zhang, Jinsheng Zeng, Shulan Yang, Wenli Sheng
J Cereb Blood Flow Metab. 2021 Jun; 41(6): 1251–1263. Published online 2020 Apr 4. doi: 10.1177/0271678X20914996
PMCID:
PMC8142133
AbstractArticlePDF–3.3M
17.
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
AbstractArticlePDF–1.2M
18.
Common transcriptome, plasma molecules, and imaging signatures in the aging brain and a Mendelian neurovascular disease, cerebral cavernous malformation
Janne Koskimäki, Sean P. Polster, Yan Li, Sharbel Romanos, Abhinav Srinath, Dongdong Zhang, Julián Carrión-Penagos, Rhonda Lightle, Thomas Moore, Seán B. Lyne, Agnieszka Stadnik, Kristina Piedad, Ying Cao, Robert Shenkar, Alexey V. Dimov, Nick Hobson, Gregory A. Christoforidis, Timothy Carroll, Romuald Girard, Issam A. Awad
GeroScience. 2020 Oct; 42(5): 1351–1363. Published online 2020 Jun 17. doi: 10.1007/s11357-020-00201-4
PMCID:
PMC7525636
AbstractArticlePDF–2.0M
19.
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
AbstractArticlePDF–3.1M
20.
Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations
Janne Koskimäki, Dongdong Zhang, Yan Li, Laleh Saadat, Thomas Moore, Rhonda Lightle, Sean P. Polster, Julián Carrión-Penagos, Seán B. Lyne, Hussein A. Zeineddine, Changbin Shi, Robert Shenkar, Sharbel Romanos, Kenneth Avner, Abhinav Srinath, Le Shen, Matthew R. Detter, Daniel Snellings, Ying Cao, Miguel A. Lopez-Ramirez, Gregory Fonseca, Alan T. Tang, Pieter Faber, Jorge Andrade, Mark Ginsberg, Mark L. Kahn, Douglas A. Marchuk, Romuald Girard, Issam A. Awad
Acta Neuropathol Commun. 2019; 7: 132. Published online 2019 Aug 19. doi: 10.1186/s40478-019-0789-0
PMCID:
PMC6699077
AbstractArticlePDF–4.5M

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