Recalibrating vascular malformations and mechanotransduction by pharmacological intervention

被引:5
作者
Abdelilah-Seyfried, Salim [1 ]
Iruela-Arispe, M. Luisa [2 ]
Penninger, Josef M. [3 ]
Tournier-Lasserve, Elisabeth [4 ,5 ]
Vikkula, Miikka [6 ]
Cleaver, Ondine [7 ]
机构
[1] Potsdam Univ, Inst Biochem & Biol, Potsdam, Germany
[2] Northwestern Univ, Feinberg Sch Med, Dept Cell & Dev Biol, Chicago, IL 60611 USA
[3] Univ British Columbia, Life Sci Inst, Dept Med Genet, Vancouver, BC, Canada
[4] Univ Paris, INSERM, UMR Neurodiderot 1141, Paris, France
[5] Hop St Louis, AP HP, Dept Genet Neurovasc Dis, Paris, France
[6] de Duve Inst, Human Mol Genet, Brussels, Belgium
[7] UT Southwestern Med Ctr, Dept Mol Biol, UT Southwestern Med Ctr,6000 Harry Hines Blvd, Dallas, TX 75390 USA
关键词
ARTERIOVENOUS-MALFORMATIONS; MOYAMOYA-DISEASE; MUTATIONS; ENDOTHELIUM; ACTIVATION; HEALTH;
D O I
10.1172/JCI160227
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
[No abstract available]
引用
收藏
页数:4
相关论文
共 27 条
[1]  
Aird WC, 2008, PHARMACOL REP, V60, P139
[2]   Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling [J].
Amyere, Mustapha ;
Revencu, Nicole ;
Helaers, Raphael ;
Pairet, Eleonore ;
Baselga, Eulalia ;
Cordisco, Maria ;
Chung, Wendy ;
Dubois, Josee ;
Lacour, Jean-Philippe ;
Martorell, Loreto ;
Mazereeuw-Hautier, Juliette ;
Pyeritz, Reed E. ;
Amor, David J. ;
Bisdorff, Annouk ;
Blei, Francine ;
Bombei, Hannah ;
Dompmartin, Anne ;
Brooks, David ;
Dupont, Juliette ;
Gonzalez-Enseat, Maria Antonia ;
Frieden, Ilona ;
Gerard, Marion ;
Kvarnung, Malin ;
Hanson-Kahn, Andrea Kwan ;
Hudgins, Louanne ;
Leaute-Labreze, Christine ;
McCuaig, Catherine ;
Metry, Denise ;
Parent, Philippe ;
Paul, Carle ;
Petit, Florence ;
Phan, Alice ;
Quere, Isabelle ;
Salhi, Aicha ;
Turner, Anne ;
Vabres, Pierre ;
Vicente, Asuncion ;
Wargon, Orli ;
Watanabe, Shoji ;
Weibel, Lisa ;
Wilson, Ashley ;
Willing, Marcia ;
Mulliken, John B. ;
Boon, Laurence M. ;
Vikkula, Miikka .
CIRCULATION, 2017, 136 (11) :1037-+
[3]   Propagating Wave of ERK Activation Orients Collective Cell Migration [J].
Aoki, Kazuhiro ;
Kondo, Yohei ;
Naoki, Honda ;
Hiratsuka, Toru ;
Itoh, Reina E. ;
Matsuda, Michiyuki .
DEVELOPMENTAL CELL, 2017, 43 (03) :305-+
[4]   Endothelial fluid shear stress sensing in vasculr health and disease [J].
Baeyens, Nicolas ;
Bandyopadhyay, Chirosree ;
Coon, Brian G. ;
Yun, Sanguk ;
Schwartz, Martin A. .
JOURNAL OF CLINICAL INVESTIGATION, 2016, 126 (03) :821-828
[5]   eNOS Activation by Physical Forces: From Short-Term Regulation of Contraction to Chronic Remodeling of Cardiovascular Tissues [J].
Balligand, J. -L. ;
Feron, O. ;
Dessy, C. .
PHYSIOLOGICAL REVIEWS, 2009, 89 (02) :481-534
[6]   Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype [J].
Chan, Aubrey C. ;
Li, Dean Y. ;
Berg, Michel J. ;
Whitehead, Kevin J. .
FEBS JOURNAL, 2010, 277 (05) :1076-1083
[7]   Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation [J].
Couto, Javier A. ;
Huang, August Y. ;
Konczyk, Dennis J. ;
Goss, Jeremy A. ;
Fishman, Steven J. ;
Mulliken, John B. ;
Warman, Matthew L. ;
Greenel, Arin K. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (03) :546-554
[8]   NOTCH4 gene polymorphisms as potential risk factors for brain arteriovenous malformation development and hemorrhagic presentation [J].
Delev, Daniel ;
Pavlova, Anna ;
Grote, Alexander ;
Bostroem, Azize ;
Hoellig, Anke ;
Schramm, Johannes ;
Fimmers, Rolf ;
Oldenburg, Johannes ;
Simon, Matthias .
JOURNAL OF NEUROSURGERY, 2017, 126 (05) :1552-1559
[9]   Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations [J].
Eerola, I ;
Boon, LM ;
Mulliken, JB ;
Burrows, PE ;
Dompmartin, A ;
Watanabe, S ;
Vanwijck, R ;
Vikkula, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1240-1249
[10]   De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy [J].
Guey, Stephanie ;
Grangeon, Lou ;
Brunelle, Francis ;
Bergametti, Francoise ;
Amiel, Jeanne ;
Lyonnet, Stanislas ;
Delaforge, Audrey ;
Arnould, Minh ;
Desnous, Beatrice ;
Bellesme, Celine ;
Herve, Dominique ;
Schwitalla, Jan C. ;
Kraemer, Markus ;
Tournier-Lasserve, Elisabeth ;
Kossorotoff, Manoelle .
JOURNAL OF MEDICAL GENETICS, 2017, 54 (08) :550-557