RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

• Published in: PloS one Vol. 11; no. 10; p. e0164759
• Main Authors: Kobayashi, Hatasu, Brozman, Miroslav, Kyselová, Kateřina, Viszlayová, Daša, Morimoto, Takaaki, Roubec, Martin, Školoudík, David, Petrovičová, Andrea, Juskanič, Dominik, Strauss, Jozef, Halaj, Marián, Kurray, Peter, Hranai, Marián, Harada, Kouji H., Inoue, Sumiko, Yoshida, Yukako, Habu, Toshiyuki, Herzig, Roman, Youssefian, Shohab, Koizumi, Akio
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 13.10.2016; Public Library of Science (PLoS)
• Subjects: Adenosine Triphosphatases - genetics; Adenosine Triphosphatases - metabolism; Adult; Alleles; Biology and Life Sciences; Cell adhesion & migration; Cell migration; Cell Movement; Child; Cloning; Czech Republic; Deoxyribonucleic acid; Disease susceptibility; DNA; Endothelial cells; Environmental science; European Continental Ancestry Group - genetics; Exons; Female; Food science; Functional analysis; Genetic aspects; Genetic polymorphisms; Genotype; Haplotypes; Hospitals; Human Umbilical Vein Endothelial Cells; Humans; Laboratories; Lesions; Magnetic Resonance Angiography; Male; Medical research; Medical schools; Medicine; Medicine and Health Sciences; Middle Aged; Moyamoya disease; Moyamoya Disease - genetics; Moyamoya Disease - pathology; Mutagenesis; Mutation; Neurology; Nutrition; Patients; Pedigree; People and Places; Philosophers; Plasmids; Polymorphism; Polymorphism, Single Nucleotide; Population studies; Proteins; Research and Analysis Methods; Sequence Analysis, DNA; Single-nucleotide polymorphism; Slovakia; Stroke; Ubiquitin-Protein Ligases - genetics; Ubiquitin-Protein Ligases - metabolism; Umbilical vein; University faculty; University graduates; Young Adult; Czech Republic; Slovakia; United States > US; Japan

RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many n...