Results 21 to 30 of about 4,207 (232)

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

A familiar cerebral cavernous malformations (FCCMs) patient with CCM1 deletion-frameshift mutation generates an induced pluripotent stem cell line (NFHHMUi001-A)

Stem Cell Research, 2022
Ruohan Sun, Qi Liu, Long Mu, Aowen Wang, Junjie Zhao, Yu Long, Li Liu   +6 more
doaj   +2 more sources

The CCM1–CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity

Journal of Cell Science, 2018
Justyna Lisowska, Yekaterina A Miroshnikova, Emmanuelle Planus   +2 more
exaly   +2 more sources

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy. [PDF]

Brain Behav
CCM1, CCM2, CCM3, MAP3K3, and PIK3CA genes mediate CCM pathogenesis by regulating the RhoA–ROCK, MAP3K3–KLF2/4, and PIK3CA–AKT–mTOR pathways, affecting processes such as cell migration, intercellular junctions, cell proliferation, inflammation, autophagy, EndMT, angiogenesis, and oxidative stress.
Zhang Z, Deng J, Sun W, Wang Z.
europepmc   +2 more sources

Cerebral vascular malformations: pathogenesis and therapy. [PDF]

MedComm (2020)
CVMs management based on imaging genomics and liquid biopsy. In the future, somatic or de novo germline mutation information could be used to direct neurosurgical and medical management of CVMs. Somatic or germline variants can be acquired from imaging genomics or liquid biopsies preoperatively.
He Q, Huo R, Sun Y, Zheng Z, Xu H, Zhao S, Ni Y, Yu Q, Jiao Y, Zhang W, Zhao J, Cao Y.   +11 more
europepmc   +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

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

Plasma water T2 detects age-stratified differences in cardiometabolic health among familial CCM patients with Hispanic CCM1 mutation

medRxiv, 2023
Introduction. Cerebral cavernous malformations (CCMs) are abnormal clusters of capillaries in the nervous system. This pilot study analyzed the cardiometabolic health status of individuals with familial CCMs caused by a rare mutation in the CCM1 gene ...
J. Croft, Diana F Sandoval, David Cistola, Jun Zhang   +3 more
semanticscholar   +2 more sources

CCM2 Expression Parallels That of CCM1 [PDF]

Stroke, 2006
Background and Purpose— Mutations in CCM2 (MGC4607 or malcavernin) cause familial cerebral cavernous malformation (CCM), an autosomal dominant neurovascular disease. Both the function of this molecule and the pathogenesis of the disease remain elusive.
Askin, Seker, Katie L, Pricola, Bulent, Guclu, Ali K, Ozturk, Angeliki, Louvi, Murat, Gunel   +5 more
openaire   +2 more sources

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