Results 1 to 10 of about 1,473 (113)

Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations

Frontiers in Neuroscience, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly occur in the brain. CCMs can be sporadic or hereditary in an autosomal dominant manner. The genes harboring variants of familial CCMs (FCCMs) include CCM1/KRIT1, CCM2/MGC4607,
Yujun Li, Yiteng Xue, Xiaoming Wei
exaly   +3 more sources

Whole-Genome Omics Elucidates the Role of CCM1 and Progesterone in Cerebral Cavernous Malformations within CmPn Networks [PDF]

Diagnostics
Cerebral cavernous malformations (CCMs) are abnormal expansions of brain capillaries that increase the risk of hemorrhagic strokes, with CCM1 mutations responsible for about 50% of familial cases.
Jacob Croft, Brian Grajeda, Liyuan Gao, Johnathan Abou-Fadel, Ahmed Badr, Victor Sheng, Jun Zhang   +6 more
doaj   +2 more sources

Regulatory logic of the Chlamydomonas CO2-concentrating mechanism: coupling carbon flux, energy supply, and pyrenoid architecture [PDF]

Frontiers in Plant Science
The algal CO2-concentrating mechanism (CCM) elevates CO2 around Rubisco, the CO2-fixing enzyme, through the coordinated action of inorganic carbon (Ci) uptake systems, carbonic anhydrases (CAs), and CO2-retention mechanisms, thereby maintaining ...
Daisuke Shimamura, Daisuke Shimamura, Takashi Yamano   +2 more
doaj   +2 more sources

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Frontiers in Neurology, 2022
BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3.
Zichao Feng, Bin Huang, Ming Liu
exaly   +3 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.
Baorong Zhang, Kang Wang, Guohua Zhao
exaly   +3 more sources

Precise CCM1 Gene Correction and Inactivation in Patient-Derived Endothelial Cells: Modeling Knudson's Two-Hit Hypothesis in Vitro

Molecular Genetics & Genomic Medicine, 2019
Background The CRISPR/Cas9 system has opened new perspectives to study the molecular basis of cerebral cavernous malformations (CCMs) in personalized disease models. However, precise genome editing in endothelial and other hard‐to‐transfect cells remains
Stefanie Spiegler, Matthias Rath, Christiane D Much   +2 more
exaly   +2 more sources

Circumferential actomyosin bundles anchored by CCM1 drive endothelial cell contraction and vessel constriction [PDF]

Nature Communications
Blood vessels undergo extensive remodelling to acquire appropriate diameters, yet how endothelial cells coordinate changes in their number and shape to achieve this remains unclear.
Yan Chen, Nuria Taberner, Jason da Silva, Vivek Semwal, Biplab Bhattacherjee, Julia Eckert, Igor Kondrychyn, Mingzhao Hu, Nitish Aswani, Guihua Chen, Yasushi Okada, Anne Karine Lagendijk, Tatsuo Shibata, Satoru Okuda, Li-Kun Phng   +14 more
doaj   +2 more sources

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells

Frontiers in Molecular Biosciences, 2021
Cerebral cavernous malformations are slow-flow thrombi-containing vessels induced by two-step inactivation of the CCM1, CCM2 or CCM3 gene within endothelial cells. They predispose to intracerebral bleedings and focal neurological deficits.
Christiane D. Much, Barbara S. Sendtner, Konrad Schwefel, Eric Freund, Sander Bekeschus, Oliver Otto, Axel Pagenstecher, Ute Felbor, Matthias Rath, Stefanie Spiegler   +9 more
doaj   +1 more source

Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion

Frontiers in Molecular Biosciences, 2022
Cerebral cavernous malformations are clusters of aberrant vessels that can lead to severe neurological complications. Pathogenic loss-of-function variants in the CCM1, CCM2, or CCM3 gene are associated with the autosomal dominant form of the disease ...
Robin A. Pilz, Dariush Skowronek, Motaz Hamed, Anja Weise, Elisabeth Mangold, Alexander Radbruch, Torsten Pietsch, Ute Felbor, Matthias Rath   +8 more
doaj   +1 more source

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   +1 more source