The genetic basis of moyamoya disease

R Mertens, M Graupera, H Gerhardt, A Bersano… - Translational stroke …, 2022 - Springer
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive
spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their …

RNF213 and GUCY1A3 in moyamoya disease: key regulators of metabolism, inflammation, and vascular stability

Y Mineharu, S Miyamoto - Frontiers in Neurology, 2021 - frontiersin.org
Moyamoya disease is an idiopathic chronically progressive cerebrovascular disease, which
causes both ischemic and hemorrhagic stroke. Genetic studies identified RNF213/Mysterin …

Moyamoya Disease Susceptibility Gene RNF213 Regulates Endothelial Barrier Function

V Roy, JP Ross, R Pépin, S Cortez Ghio, A Brodeur… - Stroke, 2022 - Am Heart Assoc
Background: Variants in the ring finger protein 213 (RNF213) gene are known to be
associated with increased predisposition to cerebrovascular diseases development …

The application of convolutional neural network to stem cell biology

D Kusumoto, S Yuasa - Inflammation and regeneration, 2019 - Springer
Induced pluripotent stem cells (iPSC) are one the most prominent innovations of medical
research in the last few decades. iPSCs can be easily generated from human somatic cells …

Differentiation, evaluation, and application of human induced pluripotent stem cell–derived endothelial cells

Y Lin, CH Gil, MC Yoder - Arteriosclerosis, thrombosis, and …, 2017 - Am Heart Assoc
The emergence of induced pluripotent stem cell (iPSC) technology paves the way to
generate large numbers of patient-specific endothelial cells (ECs) that can be potentially …

Novel multifaceted roles for RNF213 protein

G Pollaci, G Gorla, A Potenza, T Carrozzini… - International Journal of …, 2022 - mdpi.com
Ring Finger Protein 213 (RNF213), also known as Mysterin, is the major susceptibility factor
for Moyamoya Arteriopathy (MA), a progressive cerebrovascular disorder that often leads to …

Induced pluripotent stem cell-based drug screening by use of artificial intelligence

D Kusumoto, S Yuasa, K Fukuda - Pharmaceuticals, 2022 - mdpi.com
Induced pluripotent stem cells (iPSCs) are terminally differentiated somatic cells that
differentiate into various cell types. iPSCs are expected to be used for disease modeling and …

Endothelial cells harbouring the JAK2V617F mutation display pro-adherent and pro-thrombotic features

A Guadall, E Lesteven, G Letort, SA Toor… - Thrombosis and …, 2018 - thieme-connect.com
Thromboembolic events are the main cause of mortality in BCR-ABL1-negative
myeloproliferative neoplasms (MPNs) but their underlying mechanisms are largely …

Hypoxia as a driving force of pluripotent stem cell reprogramming and differentiation to endothelial cells

P Podkalicka, J Stępniewski, O Mucha… - Biomolecules, 2020 - mdpi.com
Inadequate supply of oxygen (O2) is a hallmark of many diseases, in particular those related
to the cardiovascular system. On the other hand, tissue hypoxia is an important factor …

Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease

T Morimoto, Y Mineharu, K Ono, M Nakatochi… - PLoS one, 2017 - journals.plos.org
Background The genetic architecture of coronary artery disease has not been fully
elucidated, especially in Asian countries. Moyamoya disease is a progressive …