Results 21 to 30 of about 1,951 (186)

Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations [PDF]

EMBO Molecular Medicine
Cerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3/PDCD10 trigger a MAPK-Krüppel-like factor 2 (KLF2) signaling cascade, which induces a pathophysiological pattern of gene
Van-Cuong Pham, Claudia Jasmin Rödel, Mariaelena Valentino, Matteo Malinverno, Alessio Paolini, Juliane Münch, Candice Pasquier, Favour C Onyeogaziri, Bojana Lazovic, Romuald Girard, Janne Koskimäki, Melina Hußmann, Benjamin Keith, Daniel Jachimowicz, Franziska Kohl, Astrid Hagelkruys, Josef M Penninger, Stefan Schulte-Merker, Issam A Awad, Ryan Hicks, Peetra U Magnusson, Eva Faurobert, Massimiliano Pagani, Salim Abdelilah-Seyfried   +23 more
doaj   +2 more sources

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   +5 more sources

Force-mediated recruitment and reprogramming of healthy endothelial cells drive vascular lesion growth [PDF]

Nature Communications
Force-driven cellular interactions are crucial for cancer cell invasion but remain underexplored in vascular abnormalities. Cerebral cavernous malformations (CCM), a vascular abnormality characterized by leaky vessels, involves CCM mutant cells ...
Apeksha Shapeti, Jorge Barrasa-Fano, Abdel Rahman Abdel Fattah, Janne de Jong, José Antonio Sanz-Herrera, Mylène Pezet, Said Assou, Emilie de Vet, Seyed Ali Elahi, Adrian Ranga, Eva Faurobert, Hans Van Oosterwyck   +11 more
doaj   +2 more sources

ccm2-like is required for cardiovascular development as a novel component of the Heg-CCM pathway

Developmental Biology, 2013
The Heart of Glass-Cerebral Cavernous Malformation (Heg-CCM) pathway is essential for normal cardiovascular development in zebrafish and mouse. In zebrafish, the Heg-CCM pathway mutants santa(ccm1/san), valentine (ccm2/vtn), and heart of glass (heg) exhibit severely dilated hearts and inflow tracts and a complete absence of blood circulation.
Rosen, Jonathan N., Sogah, Vanessa M., Ye, Lillian Y., Mably, John D.   +3 more
openaire   +3 more sources

A novel CCM2 variant in a family with non‐progressive cognitive complaints and cerebral microbleeds [PDF]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2016
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family history for early onset Alzheimer's disease. We performed exome sequencing followed by Sanger sequencing
Cohn-Hokke, PE, Holstege, H, Weiss, MM, van der Flier, WM, Barkhof, F, Sistermans, EA, Pijnenburg, YA, van Swieten, JC, Meijers-Heijboer, H, Scheltens, P   +9 more
openaire   +4 more sources

Use of Single-Cell Data and scPagwas Analysis to Identify T Cell Subsets and Construct a Prognostic Model for Clear Cell Renal Cell Carcinoma. [PDF]

Hum Mutat
Background Clear cell renal cell carcinoma (KIRC), the most prevalent pathological renal cell carcinoma (RCC) subtype, makes up approximately 75%–84% of total cases. KIRC is characterized by high heterogeneity, high metastasis rates, and a poor prognosis. Its incidence rate has continued to rise in recent years.
Yi X, Jia Z, Wu J, Wang S, Yu Y, Kong Y, He X, Huang Y.   +7 more
europepmc   +2 more sources

The Design, Realization and Testing of the ILU of the CCM2 Using FPGA Technology

, 2000
Most existing computers today are built upon a subset of the arithmetic system which is based upon the foundation of set theory. All formal systems can be expressed in terms of arithmetic and logic on current arithmetic computers through an appropriate ...
Foote, David W.
openaire   +4 more sources

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas

Journal of Molecular Neuroscience, 2015
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and occur as a sporadic or an autosomal dominant condition.
Cigoli, M. S., De Benedetti, S., Marocchi, A., Bacigaluppi, S., Primignani, P., Gesu, G., Citterio, A., Tassi, L., Mecarelli, O., Pulitano, P., Penco, S.   +10 more
openaire   +6 more sources

Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease

Journal of the Formosan Medical Association, 2022
Hereditary cerebral cavernous malformations (CCMs) are characterized by clustered dilated capillary-like vessels in the brain. Autosomal dominant polycystic kidney disease (PKD) is characterized by renal cysts and extra-renal abnormalities.
Pei-Feng Hsieh, Shih-Yao Liu, Chih-Hao Chen, Pei-Lung Chen, Sung-Chun Tang, Jiann-Shing Jeng   +5 more
doaj   +1 more source

In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain

Biochemistry and Biophysics Reports, 2022
Purpose: The objective of this study is to validate the existence of dual cores within the typical phosphotyrosine binding (PTB) domain and to identify potentially damaging and pathogenic nonsynonymous coding single nuclear polymorphisms (nsSNPs) in the ...
Akhil Padarti, Ofek Belkin, Johnathan Abou-Fadel, Jun Zhang   +3 more
doaj   +1 more source