Results 21 to 30 of about 2,293 (187)

YAP Fuels Cerebral Cavernous Malformations by Regulating KLF4 Transcriptional Activity and Protein Stability. [PDF]

MedComm (2020)
Cerebral cavernous malformation (CCM) gene complex deficiency dual‐regulates YAP activity via a “dual‐pronged” mechanism: relieving LATS‐mediated inhibition to license YAP nuclear translocation, and promoting MAP3K3‐mediated YAP phosphorylation to stabilize YAP–KLF4 association.
Ye T, Zheng Q, Hu Z, Fan H, Sun Z, Li X, Mo H, Chang C, Xu Y, Wang K, Fang D, Song H.   +11 more
europepmc   +2 more sources

CCM2 and PAK4 act downstream of atrial natriuretic peptide signaling to promote cell spreading

Biochemical Journal, 2017
Atrial natriuretic peptide (ANP) is a cardiac hormone released by the atrium in response to stretching forces. Via its receptor, guanylyl cyclase-A (GC-A), ANP maintains cardiovascular homeostasis by exerting diuretic, natriuretic, and hypotensive ...
Masahiro Zenitani, Mikiya Miyazato, Yoshiharu Akitake, Toru Kimura, Jun Hino, Koji Ando, Koichi Miura, Hiroshi Hosoda, Kenji Kangawa, Shigetomo Fukuhara, Takashi Nojiri   +10 more
core   +3 more sources

Risk of Clinical Events in Presymptomatic Familial Cerebral Cavernous Malformations. [PDF]

Eur J Neurol
ABSTRACT Background and Purpose Familial cerebral cavernous malformations (fCCM) may cause focal neurological deficits (FND) due to hemorrhagic or non‐hemorrhagic events and epileptic seizures (ES). With the widespread use of magnetic resonance imaging (MRI) and genetic testing, diagnosis is now frequently established at a presymptomatic stage, before ...
Popa CR, Hervé D, Alili N, Dubus E, Taleb A, Fernandes F, Riant F, Lasserve ET, Lambert L, Chabriat H, Guey S.   +10 more
europepmc   +2 more sources

Live or Let Die: CCM2 Provides the Link [PDF]

Neuron, 2009
TrkA receptors are well known for promoting neuronal cell survival. However, in some neuroblastic tumors, TrkA activation can instead induce apoptosis. In this issue of Neuron, Harel et al. identify CCM2 as a mediator of TrkA-dependent cell death, suggesting that CCM2 is a distinctive type of tumor suppressor that modulates tyrosine kinase signaling.
Gruber-Olipitz, Mariella, Segal, Rosalind A.   +1 more
openaire   +5 more sources

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

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +2 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

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

Abortive intussusceptive angiogenesis causes multi-cavernous vascular malformations

eLife, 2021
Mosaic inactivation of CCM2 in humans causes cerebral cavernous malformations (CCMs) containing adjacent dilated blood-filled multi-cavernous lesions. We used CRISPR-Cas9 mutagenesis to induce mosaic inactivation of zebrafish ccm2 resulting in a novel ...
Wenqing Li, Virginia Tran, Iftach Shaked, Belinda Xue, Thomas Moore, Rhonda Lightle, David Kleinfeld, Issam A Awad, Mark H Ginsberg   +8 more
doaj   +1 more source

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation-Region Frameshift Variant. [PDF]

Mol Genet Genomic Med
A novel KRIT1 initiation‐region frameshift variant, NM_004912.4.2dup [p.(Met1IlefsTer31)], was identified in a pediatric family with familial cerebral cavernous malformation. Marked intrafamilial variability supports early molecular diagnosis, cascade family screening, and susceptibility‐sensitive MRI surveillance. ABSTRACT Background Familial cerebral
Yayıcı Köken Ö, Yanartaş MS, Aygün H, Ceylan AC, Karaali K, Kazan MS.   +5 more
europepmc   +2 more sources