Results 41 to 50 of about 1,269 (145)

Impaired retinoic acid signaling in cerebral cavernous malformations

Scientific Reports, 2023
The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff, Gwenola Boulday, Claudia J. Rödel, Cécile Otten, Daphné Raphaelle Vannier, Cécile Cardoso, Eva Faurobert, Deepika Dogra, Elisabeth Tournier-Lasserve, Salim Abdelilah-Seyfried   +9 more
doaj   +1 more source

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation

Case Reports in Neurology, 2016
Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista   +3 more
doaj   +1 more source

Pharmacological inhibition of the HEG1-KRIT1 protein complex upregulate KLF2 and KLF4 expression in endothelial cells [PDF]

, 2020
HEG1 (Heart of glass1), a transmembrane protein, directly binds to and recruits KRIT1 (Krev interaction trapped protein 1) to endothelial junctions to form the HEG1-KRIT1 protein complex that establishes and maintains junctional integrity.
Choi, Chelsea Hyun Ju
core  

Pharmacological inhibition of the heart of glass (HEG1)-Krev interaction trapped protein 1 (KRIT1) protein complex increases Krüppel-like Factors 4 and 2 (KLF4/2) expression in endothelial cells [PDF]

, 2019
ABSTRACT The Krüppel-like Factors 4 and 2 (KLF4/2) are transcription factors and master regulators of endothelial cells (ECs) phenotype and homeostasis. KLF4/2 are important blood-flow-responsive genes within ECs that differentially regulate the expression of factors that confer anti-inflammatory, antithrombotic, and antiproliferative ...
Lopez-Ramirez, Miguel Alejandro, Haynes, Mark K., Hale, Preston, Oukoloff, Killian, Bautista, Matthew, Gongol, Brendan, Shyy, John Y., Ballatore, Carlo, Sklar, Larry A., Gingras, Alexandre R.   +9 more
openaire   +1 more source

Glucose-sensing microRNA-21 disrupts ROS homeostasis and impairs antioxidant responses in cellular glucose variability

Cardiovascular Diabetology, 2018
Background Antioxidant enzymes play a fundamental role in counteracting oxidative stress induced by high glucose. Although mitochondrial superoxide dismutase (SOD2) is the principal defence against the toxicity of superoxide anions, the mechanism of its ...
Lucia La Sala, Simona Mrakic-Sposta, Stefano Micheloni, Francesco Prattichizzo, Antonio Ceriello   +4 more
doaj   +1 more source

KRIT1 is a differentially expressed gene in brain metastatic human breast cancer.

, 2021
Metastasis to the brain is a clinical problem in patients with breast cancer (1-3). We mined published microarray data (4, 5) to compare primary and metastatic tumor transcriptomes for the discovery of genes associated with brain metastasis in humans ...
Shahan Mamoor
core   +1 more source

: Rap1 regulates Krit1 microtubule and lipid binding

, 2007
International audienceThe small G protein Rap1 regulates diverse cellular processes such as integrin activation, cell adhesion, cell-cell junction formation and cell polarity.
Béraud-Dufour, Sophie, Faurobert, Eva, Chardin, Pierre, Gautier, Romain, Albiges-Rizo, Corinne   +4 more
core   +2 more sources

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Targeting protein–protein interactions with reversible covalent modalities: Non‐cysteine chemistries

British Journal of Pharmacology, EarlyView.
Abstract Protein–protein interactions (PPIs) are central to diverse cellular functions, and represent a rapidly expanding class of therapeutic targets. Advancements in covalent drug design have enabled small‐molecule drugs to overcome challenges associated with engaging these targets, such as limited durations of action and difficult‐to‐drug (expansive,
Ruchira Basu, Steven Fletcher
wiley   +1 more source

Systems-wide analysis unravels the new roles of CCM signal complex (CSC)

Heliyon, 2019
Cerebral cavernous malformations (CCMs) are characterized by abnormally dilated intracranial capillaries that result in increased susceptibility to stroke. Three genes have been identified as causes of CCMs; KRIT1 (CCM1), MGC4607 (CCM2) and PDCD10 (CCM3);
Johnathan Abou-Fadel, Mariana Vasquez, Brian Grajeda, Cameron Ellis, Jun Zhang   +4 more
doaj   +1 more source