Results 101 to 110 of about 1,834 (180)

Serebral kavernoz malformasyonlarda (celebral cavernous malformation, CCM) mutasyona uğrayan KRIT1’in anjiogenik sinyal yolunun moleküler mekanizması.

, 2004
Serebral kavemoz malforaıasyonlann (SKM) genetik temelim anlamaya yönelik yapılan moleküler genetik çalışmalar sonucunda hastalıkla ilişkili üç (Cerebral Cavernous Malformation 1-3) lokus tanımlanmış ve CCMİ lokusu içerisinde yer alan KRIT1 geni ...
Kayışlı, Özlem Güzeloğlu
core  

TLNRD1-CCM2 interaction maintains endothelial actin networks through a KLF2/4-independent mechanism. [PDF]

JVS Vasc Sci
Zhang Y, Qiu S, Hu C, Fu W, Wang C, Wang L.   +5 more
europepmc   +1 more source

Circumferential actomyosin bundles anchored by CCM1 drive endothelial cell contraction and vessel constriction. [PDF]

Nat Commun
Chen Y, Taberner N, da Silva J, Semwal V, Bhattacherjee B, Eckert J, Kondrychyn I, Hu M, Aswani N, Chen G, Okada Y, Lagendijk AK, Shibata T, Okuda S, Phng LK.   +14 more
europepmc   +1 more source

Novel insights into the relationship between KRIT1 and ROS homeostasis: KRIT1 loss-of-function causes a ROS-dependent upregulation of transcription factors involved in oxidative stress response

, 2012
Loss-of-function mutations of the KRIT1 gene (CCM1) have been associated with the pathogenesis of Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral haemorrhage.
GOITRE, Luca, Braggion S., Cutano V., Trapani E., Morina A., Canzoneri R., PERGOLIZZI, Barbara, BIASI, Fiorella, Ferro E, Trabalzini L., RETTA, Saverio Francesco   +10 more
openaire   +2 more sources

Neuropathological Findings Following Failure of Laser Interstitial Thermal Therapy for an Epileptogenic Cerebral Cavernous Malformation. [PDF]

Neuropathol Appl Neurobiol
Pietrantoni A, Di Giacomo R, Rizzi M, Cuccarini V, Doniselli FM, Colombo R, Marucci G.   +6 more
europepmc   +1 more source

Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation. [PDF]

Cureus
Scott ML, Ross DE.
europepmc   +1 more source

Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies. [PDF]

Hum Mol Genet
Lane TK, Brown NJ, Green TE, Garza D, de Silva MG, Bennett MF, Tubb C, Macdonald SMW, Gascoigne A, Phillips RJ, Slavin J, D'Arcy C, MacGregor D, Clifford A, Pathmanathan L, Robertson SJ, Bekhor P, Simpson J, Gooley S, Scheffer IE, Berkovic SF, Penington AJ, Hildebrand MS.   +22 more
europepmc   +1 more source

Partial Oculomotor Nerve Palsy Revealing PDCD10-Related Familial Cerebral Cavernous Malformation in a Child. [PDF]

Cureus
Murakami Y, Inoue T, Ishikura S, Fujimoto R, Aoyama H.   +4 more
europepmc   +1 more source

Regulation of Endothelial Cell Behavior and Vascular Function by Krev Interaction Trapped Protein 1 (KRIT1)

Thesis (Ph.D.)--University of Rochester. School of Medicine & Dentistry. Dept. of Pharmacology and Physiology, 2016.Disruption of endothelial cell-cell contact is a key event in many cardiovascular diseases and is a characteristic of pathologically ...
Glading, Angela J., DiStefano, Peter V.
core  

KRIT1 ankyrin repeat containing (KRIT1; CCM1); cerebral cavernous malformation 2 (CCM2); programmed cell death 10 (PDCD10; CCM3) [PDF]

Science-Business eXchange, 2010
openaire   +1 more source