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 …

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 …

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 …

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease

S Koyama, K Ito, C Terao, M Akiyama, M Horikoshi… - Nature …, 2020 - nature.com
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 …

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 …

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

J Choi, S Kim, J Kim, HY Son, SK Yoo, CU Kim… - Science …, 2023 - science.org
Underrepresentation of non-European (EUR) populations hinders growth of global precision
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

M Nagasaki, J Yasuda, F Katsuoka, N Nariai… - Nature …, 2015 - nature.com
Abstract The Tohoku Medical Megabank Organization reports the whole-genome
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 …

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 …

Insights into hominid evolution from the gorilla genome sequence

A Scally, JY Dutheil, LDW Hillier, GE Jordan… - Nature, 2012 - nature.com
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 …