Results 11 to 20 of about 1,951 (186)

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance [PDF]

Frontiers in Neurology, 2018
Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the
Concetta Scimone, Luigi Donato, Rosalia D’Angelo   +2 more
exaly   +7 more sources

Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations [PDF]

Frontiers in Neurology, 2018
Familial cerebral cavernous malformations (CCMs) are autosomal dominant disorders characterized by hemorrhagic strokes, recurrent headache, epilepsy, and focal neurological deficits.
Kang Wang, Dengchang Wu, Baorong Zhang   +2 more
exaly   +4 more sources

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

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   +4 more sources

Live or Let Die: CCM2 Provides the Link [PDF]

Neuron, 2009
TrkA receptors are well known for promoting neuronal cell survival. However, in some neuroblastic tumors, TrkA activation can instead induce apoptosis. In this issue of Neuron, Harel et al. identify CCM2 as a mediator of TrkA-dependent cell death, suggesting that CCM2 is a distinctive type of tumor suppressor that modulates tyrosine kinase signaling.
Gruber-Olipitz, Mariella, Segal, Rosalind A.   +1 more
core   +7 more sources

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

Journal of Medical Genetics, 2020
Background Cerebral 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. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2
Bergametti, Françoise, Viot, Geraldine, Verny, Christophe, Brechard, Marie Pierre, Denier, Christian, Labauge, Pierre, Petit, Paul, Nouet, Aurélien, Viallet, François, Chaussenot, Annabelle, Hervé, Dominique, Tournier-Lasserve, Elisabeth, Riant, Florence   +12 more
openaire   +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 ...
Zhu, Yuan, Sure, Ulrich, Zhang, Jian-Min, Sandalcioglu, Ibrahim Erol, Miller, Dorothea, Wu, Qun, Xu, Jin-Fang   +6 more
openaire   +4 more sources

Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations [PDF]

The American Journal of Human Genetics, 2007
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including hemorrhagic stroke and seizures. Mutations in the gene KRIT1 are responsible for CCM1, mutations in the gene MGC4607 are responsible for CCM2, and mutations in the gene PDCD10 are responsible for CCM3. DNA
Liquori, Christina L., Berg, Michel J., Squitieri, Ferdinando, Leedom, Tracey P., Ptacek, Louis, Johnson, Eric W., Marchuk, Douglas A.   +6 more
openaire   +3 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

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. Therefore, blood vessel formation is a crucial issue that might cause vascular malformations. One of the vascular malformations is
Tanriover, Gamze, Seval, Yasemin, Sati, Leyla, Gunel, Murat, Demir, Necdet   +4 more
openaire   +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 genes.
G. Boulday, N. Rudini, L. Maddaluno, A. Blécon, M. Arnould, A. Gaudric, F. Chapon, R. H. Adams, E. Dejana, E. Tournier Lasserve   +9 more
openaire   +3 more sources