Publications by authors named "Xingru Ding"
Background: Spontaneous abortion is a common complication of pregnancy that can lead to adverse physical and psychological outcomes for women. Vitamin D is reported to be associated with reproductive functions, whereas its casual effects on abortion remains unclear.
Materials And Methods: In this study, a two-sample Mendelian randomization (MR) analysis was performed to systematically assess the causal relationships between serum 25 hydroxyvitamin D [25(OH)D] concentration and the risk of spontaneous abortion.
Purpose: NLRP3-associated autoinflammatory disease (NLRP3-AID) is characterized by gain-of-function variants in the NLRP3 gene. Since there are little literature focusing on pediatric NLRP3-AID in China, we aimed to elucidate the phenotypic and genotypic profiles of Chinese patients with NLRP3-AID.
Methods: Patients with NLRP3-AID at three rheumatology centers in China were genotyped through whole exome sequencing or gene panel sequencing.
Article Synopsis
- BPES is a genetic condition characterized by specific eye abnormalities, and this study looked into the genetic causes in a family with unusual symptoms like anisometropia and cataracts.
- Researchers conducted detailed eye exams and used whole-exome sequencing to identify genetic variants.
- They found a specific variant (c.672_701dup) in the FOXL2 gene responsible for the disease in affected family members, confirming their diagnosis of type II BPES.