About
Contact & Profiles
A5102847858
Research Areas
- Protein Tyrosine Phosphatases
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- interferon and immune responses
Second Xiangya Hospital of Central South University
2024
Central South University
2024
Singleton-Merten syndrome (SMS) is a rare immunogenetic disorder affecting multiple systems, characterized by dental dysplasia, aortic calcification, glaucoma, skeletal abnormalities, and psoriasis. Glaucoma, key feature of both classical atypical SMS, remains poorly understood in terms its molecular mechanism caused DDX58 mutation. This study presented novel variant (c.1649A>C [p.Asp550Ala]) family with childhood glaucoma. Functional analysis showed that an increase IFN-stimulated gene...
10.1096/fj.202302265rr
article
EN
cc-by-nc-nd
The FASEB Journal
2024-05-16
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