Results 11 to 20 of about 2,293 (187)

Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

Journal of Medical Genetics, 2020
International audienceCerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes.
Labauge, Pierre, Riant, Florence, Petit, Paul, Verny, Christophe, Viallet, François, Denier, Christian, Bergametti, Françoise, Chaussenot, Annabelle, Tournier-Lasserve, Elisabeth, Hervé, Dominique, Nouet, Aurélien, Viot, Geraldine, Brechard, Marie Pierre   +12 more
core   +4 more sources

Differential angiogenesis function of CCM2 and CCM3 in cerebral cavernous malformations [PDF]

Neurosurgical Focus, 2010
Object Loss-of-function mutations in CCM genes are frequently detected in familial cerebral cavernous malformations (CCMs). However, the current functional studies of the CCM genes in vitro have been performed mostly in commercially purchased normal ...
Dorothea Miller, Jin-Fang Xu, Yuan Zhu, Jian-Min Zhang, Ulrich Sure, I. Erol Sandalcioglu, Qun Wu   +6 more
core   +4 more sources

A novel CCM2 gene mutation associated with family cerebral cavernous malformation [PDF]

Frontiers in Aging Neuroscience, 2016
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma.
Wen-Qing Huang, Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Liang-Liang Cai, Ming-Li Li, Ming-Li Li, Han Wang, Han Wang, Qing Lin, Qing Lin, Chi-Meng Tzeng, Chi-Meng Tzeng, Chi-Meng Tzeng   +16 more
doaj   +4 more sources

Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice. [PDF]

PLoS ONE, 2016
Mutations in CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation in humans. Mouse models of CCM disease have been established by deleting Ccm genes in postnatal animals.
Jaesung P Choi, Matthew Foley, Zinan Zhou, Weng-Yew Wong, Naveena Gokoolparsadh, J Simon C Arthur, Dean Y Li, Xiangjian Zheng   +7 more
doaj   +5 more sources

CCM2 and CCM3 proteins contribute to vasculogenesis and angiogenesis in human placenta [PDF]

Histology and histopathology, 2009
Placenta as an ideal model to study angiogenic mechanisms have been established in previous studies. There are two processes, vasculogenesis and angiogenesis, involved in blood vessel formation during placental development.
Tanriover, Gamze, Seval, Yasemin, Gunel, Murat, Sati, Leyla, Demir, Necdet   +4 more
core   +4 more sources

Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice [PDF]

Journal of Experimental Medicine, 2011
Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system (CNS) that lead to cerebral hemorrhages. Familial CCM occurs as an autosomal dominant condition caused by loss-of-function mutations in one of the three CCM ...
Luigi Maddaluno, Françoise Chapon, F. Chapon, Ralf H. Adams, A. Blécon, G. Boulday, N. Rudini, A. Gaudric, E. Tournier Lasserve, Minh Arnould, Gwénola Boulday, Elisabeth Tournier-Lasserve, L. Maddaluno, M. Arnould, Noemi Rudini, Alain Gaudric, E. Dejana, R. H. Adams, Elisabetta Dejana, Anne Blécon   +19 more
core   +3 more sources

Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3. [PDF]

The FASEB Journal, 2020
Loss-of-function variants in CCM1/KRIT1, CCM2, and CCM3/PDCD10 are associated with autosomal dominant cerebral cavernous malformations (CCMs). CRISPR/Cas9-mediated CCM3 inactivation in human endothelial cells (ECs) has been shown to induce profound ...
Strom, T.M., Rath, M., Much, C.D., Riedel, K., Kirchmaier, B.C., Dellweg, P.K.E., Pané-Farré, J., Spiegler, S., Felbor, U., Schwefel, K., Konrad Schwefel, Christiane D. Much, Ute Felbor, Patricia K. E. Dellweg, Matthias Rath, Stefanie Spiegler, Bettina C. Kirchmaier, Jan Pané‐Farré, Katharina Riedel, Tim M. Strom   +19 more
core   +4 more sources

The Design, Realization and Testing of the ILU of the CCM2 Using FPGA Technology [PDF]

, 1994
Most existing computers today are built upon a subset of the arithmetic system which is based upon the foundation of set theory. All formal systems can be expressed in terms of arithmetic and logic on current arithmetic computers through an appropriate ...
Foote, David W., David Foote
core   +3 more sources

Epicardial CCM2 Promotes Cardiac Development and Repair Via its Regulation on Cytoskeletal Reorganization

JACC: Basic to Translational Science
Summary: The epicardium provides epicardial-derived cells and molecular signals to support cardiac development and regeneration. Zebrafish and mouse studies have shown that ccm2, a cerebral cavernous malformation disease gene, is essential for cardiac ...
Rui Wang, PhD, Dongbo Lu, BS, Renhua Song, PhD, Luping Du, PhD, Xi Yang, PhD, Shi-ting Wu, PhD, Xiaohong Wang, PhD, Justin Wong, PhD, Zhelong Xu, MBBS, PhD, Qiang Zhao, PhD, Renjing Liu, PhD, Xiangjian Zheng, PhD   +11 more
doaj   +3 more sources

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2016
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Holstege, H, Scheltens, P. (Philip), Weiss, MM, Marjan M. Weiss, van Swieten, JC, Cohn-Hokke, P.E. (P.), Petra E. Cohn‐Hokke, Holstege, H. (Henne), Henne Holstege, Meijers-Heijboer, H, Philip Scheltens, Swieten, J.C. (John) van, van Swieten, J.C., Pijnenburg, YAL, Frederik Barkhof, Holstege, H (Henne), Sistermans, E.A. (Erik), van der Flier, WM, Pijnenburg, Y.A.L. (Yolande), Hanne Meijers‐Heijboer, Barkhof, F. (Frederik), Yolande A. L. Pijnenburg, John C. van Swieten, Flier, W.M. (Wiesje) van der, Cohn-Hokke, PE, Meijers-Heijboer, E.J. (Hanne), Barkhof, F, Scheltens, P, Sistermans, EA, Wiesje M. van der Flier, Erik A. Sistermans, Weiss, M.M. (Marjan M.), Pijnenburg, YA   +32 more
core   +4 more sources