Article
Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.
Clinical and experimental nephrology - 1 Sept 2026
Inoue Seiya, Nagano China, Matsuo Masafumi, Aoyama Shuhei, Kimura Yuka, Inoki Yuta, Sakakibara Nana, Horinouchi Tomoko, Yamamura Tomohiko, Ishimori Shingo, Nozu Kandai
Abstract excerpt
BACKGROUND: MYH9-related disease (MYH9-RD) is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets, and variable systemic manifestations including nephropathy. While most pathogenic MYH9 variants are missense substitutions causing dominant-negative effects, the pathogenic potential of non-missense variants, particularly those affecting splicing, remains unclear. METHODS: MYH9...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.