RNF213 in moyamoya disease: Genotype–phenotype association and the underlying mechanism

• Published in: Chinese medical journal Vol. 137; no. 21; pp. 2552 - 2560
• Main Authors: Fang, Jianxun, Yang, Xinzhuang, Ni, Jun
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 05.11.2024; Lippincott Williams & Wilkins Ovid Technologies; Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China%Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Wolters Kluwer
• Subjects: Adenosine Triphosphatases - genetics; Asian people; Chromosomes; Environmental aspects; Genes; Genetic Association Studies; Genetic linkage; Genetic Predisposition to Disease - genetics; Genomes; Genotype; Genotype & phenotype; Humans; Ischemia; Moyamoya Disease - genetics; Mutation; Mutation - genetics; Neurological disorders; Pathogenesis; Polymorphism; Polymorphism, Single Nucleotide - genetics; Review; Ubiquitin-Protein Ligases - genetics; White people; East Asia; China; Japan; p.R4810K; Moyamoya disease; Polymorphism; RNF213

Abstract Moyamoya disease (MMD) is a cerebrovascular disorder characterized by a steno-occlusive internal carotid artery and compensatory vascular network formation. Although the precise pathogenic mechanism remains elusive, genetic association studies have identified RNF213 as the principal suscept...