RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

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...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	PloS one 2016-10, Vol.11 (10), p.e0164759-e0164759
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!