Results 21 to 30 of about 3,591 (208)

Ccm1 Regulates Microvascular Morphogenesis during Angiogenesis [PDF]

Journal of Vascular Research, 2010
Cerebral cavernous malformations (CCMs) are characterized by abnormally dilated intracranial capillaries that have a propensity to bleed. The development of some CCMs in humans has been attributed to mutations in CCM1 and CCM2 genes. In animal models, major cardiovascular defects caused by both gene mutations have been observed. However, the effects of
Huiling, Liu, Daniele, Rigamonti, Ahmed, Badr, Jun, Zhang   +3 more
openaire   +2 more sources

Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot. [PDF]

Mol Genet Genomic Med
A potential association of CCM2L loss‐of ‐function variants with developmental anomalies of the heart. ABSTRACT Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Ling D, Xie W, Mao X, Liu Z, Tang Y, Kong F.   +5 more
europepmc   +2 more sources

Lack of CCM1 induces hypersprouting and impairs response to flow [PDF]

Human Molecular Genetics, 2014
Cerebral cavernous malformation (CCM) is a disease of vascular malformations known to be caused by mutations in one of three genes: CCM1, CCM2 or CCM3. Despite several studies, the mechanism of CCM lesion onset remains unclear. Using a Ccm1 knockout mouse model, we studied the morphogenesis of early lesion formation in the retina in order to provide ...
Tara M, Mleynek, Aubrey C, Chan, Michael, Redd, Christopher C, Gibson, Chadwick T, Davis, Dallas S, Shi, Tiehua, Chen, Kandis L, Carter, Jing, Ling, Raquel, Blanco, Holger, Gerhardt, Kevin, Whitehead, Dean Y, Li   +12 more
openaire   +2 more sources

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene [PDF]

, 2003
Background Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives.
Miguel Lucas, Alzenire F Costa, José M García-Moreno, Francisca Solano, Miguel A Gamero, Guillermo Izquierdo, P Labauge, S Laberge-le Couteulx, T Sahoo, M Lucas, DJ Verlaan, M Lucas, I Serebriiskii, J Zhang, T Sahoo, J Zhang, JS Zawistowski, HH Jung, HD Craig   +18 more
core   +3 more sources

NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation–mediated CCM1/2 expression

The Journal of Clinical Investigation, 2022
The loss function of cerebral cavernous malformation (CCM) genes leads to most CCM lesions characterized by enlarged leaking vascular lesions in the brain.
Zhi Fang, Xiaoran Sun, Xiang Wang, Ji Ma, Thomas Palaia, Ujala Rana, Benjamin Miao, Louis Ragolia, Wenquan Hu, Qing Robert Miao   +9 more
doaj   +1 more source

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]

, 2018
OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K., Gooch, MD, Michael R., Khanna, Omaditya   +2 more
core   +2 more sources

Modelo de cuantificación del consumo energético en edificación [PDF]

, 2012
The research conducted in this paper focuses on the generation of a model for the quantification of energy consumption in building. This is to be done through one of the most relevant environmental impact indicators associated with weight per m2 of ...
Mercader-Moyano, Pilar, Olivares, M., Ramírez de Arellano López, Antonio   +2 more
core   +2 more sources

Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice.

PLoS Biology, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions predominantly developing in the central nervous system (CNS), with no effective treatments other than surgery.
Jia Li, Yang Zhao, Jaesung Choi, Ka Ka Ting, Paul Coleman, Jinbiao Chen, Victoria C Cogger, Li Wan, Zhongsong Shi, Thorleif Moller, Xiangjian Zheng, Mathew A Vadas, Jennifer R Gamble   +12 more
doaj   +1 more source

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

Biochimica et Biophysica Acta (BBA) - 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, David, Cistola, Ahmed, Badr   +7 more
openaire   +2 more sources

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources