Results 91 to 100 of about 2,140 (195)

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

Frontiers in Neurology, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities.
Christian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, Lejla Mulahasanovic, Oliver M. Grauer, Philipp Kümpers, Heinz Wiendl, Sven G. Meuth   +7 more
doaj   +1 more source

Comparative omics of CCM signaling complex (CSC)

Chinese Neurosurgical Journal, 2020
Background Cerebral cavernous malformations (CCMs), a major neurosurgical condition, characterized by abnormally dilated intracranial capillaries, result in increased susceptibility to stroke.
Johnathan Abou-Fadel, Mark Smith, Kamran Falahati, Jun Zhang   +3 more
doaj   +1 more source

A novel CCM2 gene mutation associated with family cerebral cavernous malformation

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   +1 more source

KLF4 IS A KEY DETERMINANT IN THE DEVELOPMENT AND PROGRESSION OF CEREBRAL CAVERNOUS MALFORMATIONS [PDF]

, 2016
Cerebral cavernous malformations (CCMs) are capillary-venous malformations located in the central nervous system that often lead to neurological deficits and cerebral hemorrhage. Pharmacological treatment limiting disease progression is dearly needed, as
R. Cuttano
core   +1 more source

Fare meme kanseri modeli primer tümör ve metastazlarında CCM1, CCM2, CCM3 ekspresyonlarının değerlendirilmesi [PDF]

, 2017
Amaç: CCM1, CCM2 ve CCM3 genlerinde tanımlanan mutasyonlar sporadik ya da kalıtsal olup santral sinir sisteminde görülen serebral kavernoz malformasyonların (SKM) sebebidir.
Cici, Mansur
core  

Generation of Cerebral Cavernous Malformation in Neonatal Mouse Models Using Inducible Cre-LoxP Strategy.

, 2020
Mutations in the CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation (CCM) in humans. Neonatal mouse models of CCM disease have been established by deleting any one of the Ccm genes.
Choi, JP, Zheng, X, Jaesung P. Choi, Xiangjian Zheng   +3 more
core   +1 more source

Interrogating the ccm-3 Gene Network

Cell Reports, 2018
Summary: Cerebral cavernous malformations (CCMs) are neurovascular lesions caused by mutations in one of three genes (CCM1–3). Loss of CCM3 causes the poorest prognosis, and little is known about how it regulates vascular integrity. The C.
Benjamin Lant, Swati Pal, Eric Michael Chapman, Bin Yu, Daniel Witvliet, Soo Choi, Lisa Zhao, Corinne Albiges-Rizo, Eva Faurobert, W. Brent Derry   +9 more
doaj   +1 more source

Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation

Chinese Medical Journal, 2013
Background Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified.
Xue, Wang, Xue-Wu, Liu, Nora, Lee, Qi-Ji, Liu, Wen-Na, Li, Tao, Han, Kun-Kun, Wei, Shan, Qiao, Zhao-Fu, Chi   +8 more
openaire   +2 more sources

A Novel CCM3 Mutation Associated with a Severe Clinical Course in a Child with Multiple Cerebral Cavernous Malformations

Journal of Vascular Diseases
Background: Cerebral cavernous malformations (CCMs) are vascular lesions linked to mutations in the CCM1, CCM2, and CCM3 genes, resulting in angiogenesis dysregulation.
Olga Belousova, Denis Semenov, Eugenia Boulygina, Svetlana Tsygankova, Alexander Konovalov   +4 more
doaj   +1 more source

Monogenic signs of susceptibility to ischemic stroke: literature review

Ukrainian Neurosurgical Journal, 2016
Genetic factors are the important chain in the complex conditions determining the development of ischemic stroke. Mutations have different significance for the risk of its development.
Vitaliy Tsymbaliuk, Iryna Vasileva
doaj   +1 more source