Results 151 to 160 of about 1,858 (192)

Metabolic Syndrome and Hemorrhagic Stroke in Hispanic Elderly Patients with Cerebral Cavernous Malformations. [PDF]

Diagnostics (Basel)
Dwivedi AK, Jang D, Belkin O, Aickareth J, Renteria M, Hawwar M, Croft J, Kalas MA, Zuckerman M, Zhang J.   +9 more
europepmc   +1 more source

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

Human Mutation, 2008
Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mutations.
Oǧuzkan Surucu, Ekkehard Kunze, Christian Netzer   +2 more
exaly   +5 more sources

CCM1 regulates vascular-lumen organization by inducing endothelial polarity [PDF]

Journal of Cell Science, 2010
Little is known about the molecular mechanisms that regulate the organization of vascular lumen. In this paper we show that lumen formation correlates with endothelial polarization. Adherens junctions (AJs) and VE-cadherin (VEC, encoded by CDH5) are required for endothelial apicobasal polarity in vitro and during embryonic development.
Maria Grazia Lampugnani, Fabrizio Orsenigo, Gwenola Boulday   +2 more
exaly   +5 more sources

A novel large deletion in CCM1 gene in a Tunisian family

Revue Neurologique, 2019
Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one
I Brini, Elisabeth Tournier-Lasserve
exaly   +5 more sources

Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

Biochimica Et Biophysica Acta Gene Regulatory Mechanisms, 2001
Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions that cause a wide variety of neurologic problems. However, CCM1 mutations have not been identified in all
Miikka Vikkula
exaly   +2 more sources

CCM1 and the second life of proteins in adhesion complexes [PDF]

Cell Adhesion and Migration, 2014
It is well recognized that a number of proteins present within adhesion complexes perform discrete signaling functions outside these adhesion complexes, including transcriptional control. In this respect, β-catenin is a well-known example of an adhesion protein present both in cadherin complexes and in the nucleus where it regulates the TCF ...
Boudewijn M T Burgering
exaly   +3 more sources

Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling

Proceedings of the National Academy of Sciences of the United States of America, 2010
Cerebral cavernous malformations (CCM) are frequent vascular abnormalities caused by mutations in one of the CCM genes.
Arne Bartol, Yuan Zhu, Ute Felbor
exaly   +2 more sources

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Simulation of the Modern Arctic Climate by the NCAR CCM1

Journal of Climate, 1994
The National Center of Atmospheric Research (NCAR) Community Climate Model Version 1 (CCM1's) simulation of the modern arctic climate is evaluated by comparing a five-year seasonal cycle simulation with the European Center for Medium-Range Weather Forecasts (ECMWF) global analyses.
David H. Bromwich, Ren-Yow Tzeng, Thomas R. Parish   +2 more
openaire   +1 more source

CCM1–ICAP-1 complex controls β1 integrin–dependent endothelial contractility and fibronectin remodeling

Journal of Cell Biology, 2013
International audienceThe endothelial CCM complex regulates blood vessel stability and permeability. Loss-of-function mutations in CCM genes are responsible for human cerebral cavernous malformations (CCMs), which are characterized by clusters of ...
Eva Faurobert, Claire Rome, Justyna Lisowska   +2 more
exaly   +2 more sources