Results 31 to 40 of about 3,591 (208)

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation

Frontiers in Oncology, 2023
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/
Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang   +3 more
doaj   +1 more source

PDCD10 gene mutations in multiple cerebral cavernous malformations. [PDF]

PLoS ONE, 2014
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits.
Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni P Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, Simona Giovannini, Francesca Notturno, Fausta Ciccocioppo, Lilia Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco   +22 more
doaj   +1 more source

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   +1 more source

Climatological features of blocking anticyclones: a study of Northern Hemisphere CCM1 model blocking events in present-day and double CO2 concentration atmospheres [PDF]

, 1997
http://solberg.snr.missouri.edu/gcc/Using output made with the National Center for Atmospheric Research (NCAR) Community Climate Model Version 1 (CCM1), the characteristics of blocking events over the Northern Hemisphere in a ten-year present day ...
Lupo, Anthony R., 1966-, Mokhov, Igor I., Oglesby, R. J.   +2 more
core   +1 more source

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, Barbara S. Sendtner, Ute Felbor   +4 more
doaj   +1 more source

KLF4 is a key determinant in the development and progression of cerebral cavernous malformations

EMBO Molecular Medicine, 2015
Cerebral cavernous malformations (CCMs) are vascular malformations located within the central nervous system often resulting in cerebral hemorrhage. Pharmacological treatment is needed, since current therapy is limited to neurosurgery.
Roberto Cuttano, Noemi Rudini, Luca Bravi, Monica Corada, Costanza Giampietro, Eleanna Papa, Marco Francesco Morini, Luigi Maddaluno, Nicolas Baeyens, Ralf H Adams, Mukesh K Jain, Gary K Owens, Martin Schwartz, Maria Grazia Lampugnani, Elisabetta Dejana   +14 more
doaj   +1 more source

Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management Malformação cavernosa cerebral familiar: um estudo no Rio de Janeiro e revisão das recomendações para tratamento

Arquivos de Neuro-Psiquiatria, 2008
OBJECTIVE: Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic
Flávio Domingues, Emerson L. Gasparetto, Ricardo Andrade, Fabio Noro, Antônio Eiras, Judith Gault, Carlos Eduardo Silva Correia, Jorge Marcondes de Souza   +7 more
doaj   +1 more source

A novel insight into differential expression profiles of sporadic cerebral cavernous malformation patients with different symptoms

Scientific Reports, 2021
Cerebral cavernous malformation (CCM) is a vascular lesion of the central nervous system that may lead to distinct symptoms among patients including cerebral hemorrhages, epileptic seizures, focal neurologic deficits, and/or headaches.
Hilal Eren Gozel, Kıvanç Kök, Fatma Ozlen, Cihan Isler, Sadrettin Pence   +4 more
doaj   +1 more source

Role of pericytes in the development of cerebral cavernous malformations

iScience, 2022
Summary: Cerebral cavernous malformation (CCM) is caused by loss-of-function mutations in CCM1, CCM2, or CCM3 genes of endothelial cells. It is characterized by pericyte deficiency. However, the role of pericytes in CCMs is not yet clarified.
Zifeng Dai, Jingwei Li, Ying Li, Rui Wang, Huili Yan, Ziyu Xiong, Shiting Wu, Xi Yang, Dongbo Lu, Dongdong Zhang, Guofu Li, Yuwen Wang, Chunyang Men, Wenzhong Du, Xiangjian Zheng, Changbin Shi   +15 more
doaj   +1 more source

Regional Response of the NCAR CCM1 to Anomalous Surface Properties

Terrestrial, Atmospheric and Oceanic Sciences, 1997
Sensitivity tests of the National Center for Atmospheric Research (NCAR) Community Climate Model-1 (CCM1) response to surface forcing from sea surface temperature (SST) and soil moisture on precipitation are presented. Four experiments were performed, including a control experiment using climatological SSTs, an experiment with 1988 SSTs, which are ...
Wen-Yih Sun, Michael G. Bosilovich, Jiun-Dar Chern   +2 more
openaire   +1 more source