Results 21 to 30 of about 1,864 (178)

Complex Dysautonomia in a Patient With Cerebral Cavernous Malformations Due to a KRIT1 Pleiotropic Gene Mutation. [PDF]

Cureus
Dysautonomia is a disruption of the body's autonomic processes. Symptoms vary among patients, depending on the underlying disease pathways. Given that symptoms can affect all organ functions, dysautonomia often significantly impacts quality of life ...
Janssen R, Ariëns M, van Genugten J, Jacobi L, Koek G.   +4 more
europepmc   +2 more sources

KRIT1-mediated regulation of neutrophil adhesion and motility

The FEBS Journal, 2022
Loss of Krev interaction‐trapped‐1 (KRIT1) expression leads to the development of cerebral cavernous malformations (CCM), a disease in which abnormal blood vessel formation compromises the structure and function of the blood–brain barrier.
Nicholas Nobiletti, Jing Liu, A. Glading
semanticscholar   +3 more sources

Up-regulation of NADPH oxidase-mediated redox signaling contributes to the loss of barrier function in KRIT1 deficient endothelium

Scientific Reports, 2017
The intracellular scaffold KRIT1/CCM1 is an established regulator of vascular barrier function. Loss of KRIT1 leads to decreased microvessel barrier function and to the development of the vascular disorder Cerebral Cavernous Malformation (CCM).
Luca Goitre, Peter V. DiStefano, Andrea Moglia, Nicholas Nobiletti, Eva Baldini, Lorenza Trabalzini, Julie Keubel, Eliana Trapani, Vladimir V. Shuvaev, Vladimir R. Muzykantov, Ingrid H. Sarelius, Saverio Francesco Retta, Angela J. Glading   +12 more
doaj   +2 more sources

Protein kinase Cα regulates the nucleocytoplasmic shuttling of KRIT1 [PDF]

Free Radical Biology and Medicine, 2020
KRIT1 is a scaffolding protein that regulates multiple molecular mechanisms, including cell–cell and cell–matrix adhesion, and redox homeostasis and signaling. However, rather little is known about how KRIT1 is itself regulated.
Elisa De Luca, A. Perrelli, Harsha Swamy, M. Nitti, M. Passalacqua, A. Furfaro, A. Salzano, A. Scaloni, A. Glading, S. Retta   +9 more
semanticscholar   +4 more sources

The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation

Interdisciplinary Neurosurgery, 2021
Background and Objectives: Cerebral cavernous malformation (CCM) is a neurovascular disease characterized by abnormally expanded and tortuous microvessels with increased predisposition to thrombosis and focal hemorrhage.
Autilia Tommasina Buonagura, Teresa Somma, Francesca Vitulli, Giuseppina Vitiello, Immacolata Andolfo, Felice Esposito, Roberta Russo, Achille Iolascon, Paolo Cappabianca   +8 more
doaj   +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

Data in support of sustained upregulation of adaptive redox homeostasis mechanisms caused by KRIT1 loss-of-function

Data in Brief, 2018
This article contains additional data related to the original research article entitled “KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: implication for Cerebral Cavernous ...
Cinzia Antognelli, Eliana Trapani, Simona Delle Monache, Andrea Perrelli, Claudia Fornelli, Francesca Retta, Paola Cassoni, Vincenzo Nicola Talesa, Saverio Francesco Retta   +8 more
doaj   +2 more sources

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

Nature Communications
Blood vessels undergo extensive remodelling to acquire appropriate diameters, yet how endothelial cells coordinate changes in their number and shape to achieve this remains unclear.
Yan Chen, Nuria Taberner, Jason da Silva, Vivek Semwal, Biplab Bhattacherjee, Julia Eckert, Igor Kondrychyn, Mingzhao Hu, Nitish Aswani, Guihua Chen, Yasushi Okada, Anne Karine Lagendijk, Tatsuo Shibata, Satoru Okuda, Li-Kun Phng   +14 more
doaj   +2 more sources

Correction: KRIT1 Regulates the Homeostasis of Intracellular Reactive Oxygen Species.

PLoS ONE, 2019
[This corrects the article DOI: 10.1371/journal.pone.0011786.].
PLOS ONE staff
doaj   +3 more sources

Targeted Therapies for Slow-Flow Vascular Malformations. [PDF]

Australas J Dermatol
ABSTRACT Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants in cellular signalling pathways involved in the pathogenesis of vascular malformations. Given that these genetic variants are also implicated in the pathogenesis of several cancers, the repurposing of targeted therapies developed in ...
Li GX, Sebaratnam DF, Pham JP.
europepmc   +2 more sources