Moyamoya disease: diagnosis and interventions
M Ihara, Y Yamamoto, Y Hattori, W Liu… - The Lancet …, 2022 - thelancet.com
Moyamoya disease is a rare cause of stroke, radiologically characterised by progressive
stenosis of the terminal portion of the internal carotid arteries and compensatory capillary …
stenosis of the terminal portion of the internal carotid arteries and compensatory capillary …
Cortical evolution: judge the brain by its cover
DH Geschwind, P Rakic - Neuron, 2013 - cell.com
To understand the emergence of human higher cognition, we must understand its biological
substrate—the cerebral cortex, which considers itself the crowning achievement of evolution …
substrate—the cerebral cortex, which considers itself the crowning achievement of evolution …
Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection
EG Otten, E Werner, A Crespillo-Casado, KB Boyle… - Nature, 2021 - nature.com
Ubiquitylation is a widespread post-translational protein modification in eukaryotes and
marks bacteria that invade the cytosol as cargo for antibacterial autophagy,–. The identity of …
marks bacteria that invade the cytosol as cargo for antibacterial autophagy,–. The identity of …
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease
To elucidate the genetics of coronary artery disease (CAD) in the Japanese population, we
conducted a large-scale genome-wide association study of 168,228 individuals of Japanese …
conducted a large-scale genome-wide association study of 168,228 individuals of Japanese …
Diagnostic criteria for moyamoya disease-2021 revised version
S Kuroda, M Fujimura, J Takahashi… - Neurologia medico …, 2022 - jstage.jst.go.jp
In this report, we, the Research Committee on Moyamoya Disease (Spontaneous Occlusion
of the circle of Willis), describe in detail the changes in the new “Diagnostic Criteria 2021” for …
of the circle of Willis), describe in detail the changes in the new “Diagnostic Criteria 2021” for …
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …
medicine. Resources such as imputation reference panels that match the study population …
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Abstract The Tohoku Medical Megabank Organization reports the whole-genome
sequences of 1,070 healthy Japanese individuals and construction of a Japanese …
sequences of 1,070 healthy Japanese individuals and construction of a Japanese …
Probing the global cellular responses to lipotoxicity caused by saturated fatty acids
M Piccolis, LM Bond, M Kampmann, P Pulimeno… - Molecular cell, 2019 - cell.com
Excessive levels of saturated fatty acids are toxic to cells, although the basis for this
lipotoxicity remains incompletely understood. Here, we analyzed the transcriptome …
lipotoxicity remains incompletely understood. Here, we analyzed the transcriptome …
Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development
W Liu, D Morito, S Takashima, Y Mineharu… - PloS one, 2011 - journals.plos.org
Background Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its
susceptibility locus has been mapped to 17q25. 3 in Japanese families, but the susceptibility …
susceptibility locus has been mapped to 17q25. 3 in Japanese families, but the susceptibility …
Insights into hominid evolution from the gorilla genome sequence
Gorillas are humans' closest living relatives after chimpanzees, and are of comparable
importance for the study of human origins and evolution. Here we present the assembly and …
importance for the study of human origins and evolution. Here we present the assembly and …