Results 11 to 20 of about 4,207 (232)

Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis

eLife, 2018
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system.
Stefan Donat, Marta Lourenço, Alessio Paolini, Cécile Otten, Marc Renz, Salim Abdelilah-Seyfried   +5 more
doaj   +4 more sources

Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]

Korean Journal of Pediatrics, 2016
Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko   +5 more
doaj   +4 more sources

Novel functions of CCM1 delimit the relationship of PTB/PH domains [PDF]

Biochimica Et Biophysica Acta - Proteins and Proteomics, 2017
Three NPXY motifs and one FERM domain in CCM1 makes it a versatile scaffold protein for tethering the signaling components together within the CCM signaling complex (CSC). The cellular role of CCM1 protein remains inadequately expounded. Both phosphotyrosine binding (PTB) and pleckstrin homology (PH) domains were recognized as structurally related but ...
Jun Zhang, Pallavi Dubey, Akhil Padarti, Aileen Zhang, Rinkal Patel, Vipulkumar Patel, D. Cistola, A. Badr   +7 more
exaly   +4 more sources

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

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, Guohua Zhao, Guohua Zhao   +4 more
doaj   +2 more sources

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation [PDF]

Case Reports in Neurology, 2016
Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista   +3 more
doaj   +3 more sources

Whole-genome Omics delineates the function of CCM1 within the CmPn networks

bioRxiv, 2023
Introduction Cerebral cavernous malformations (CCMs) are abnormal dilations of brain capillaries that increase the risk of hemorrhagic strokes. Mutations in the KRIT1, MGC4607, and PDCD10 genes cause CCMs, with mutations in CCM1 accounting for about 50 ...
J. Croft, Brian Grajeda, Luis A. Aguirre, Liyuan Gao, Johnathan S Abou-Fadel, Victor. S. Sheng, Jun Zhang   +6 more
semanticscholar   +2 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 ...
Konrad Schwefel, Stefanie Spiegler, B. Kirchmaier, Patricia K. E. Dellweg, Christian Much, J. Pané-Farré, T. Strom, K. Riedel, U. Felbor, M. Rath   +9 more
semanticscholar   +5 more sources

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China [PDF]

Stroke and Vascular Neurology
Objective This study aims to investigate the prevalence of familial cerebral cavernous malformations (FCCMs) in first-degree relatives (FDRs) using familial screening, to describe the distribution of initial symptoms, lesion count on cranial MRI and ...
Bin Gao, Ke Ma, Huimin Wang, Fuxin Lin, Qiu He, Zhuyu Gao, Dengliang Wang, Yuanxiang Lin, Dezhi Kang, Lingjun Yan, Qixuan Li, Chunwang Li, Lingyun Zhuo, Yaqing Kang, Penghui Liu, Weilin Huang, Shuna Huang, Xinru Lin, Weiheng Zhuang, Haojie Wang, Darong Chen, Xuegang Niu, Yajun Jing, Shaowei Lin, Siying Wu   +24 more
doaj   +2 more sources

Hyaluronic acid turnover controls the severity of cerebral cavernous malformations in bioengineered human micro-vessels [PDF]

APL Bioengineering
Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly form in blood vessels of the central nervous system upon loss of the CCM multimeric protein complex.
Teodor E. Yordanov, Mikaela S. Keyser, Marco A. Enriquez Martinez, Tyron Esposito, Juliann B. Tefft, Elysse K. Morris, Larisa I. Labzin, Samantha J. Stehbens, Alan E. Rowan, Benjamin M. Hogan, Christopher S. Chen, Jan Lauko, Anne K. Lagendijk   +12 more
doaj   +2 more sources

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +2 more sources