Publications by authors named "Xi-Yuan Ping"
Article Synopsis
- The study aimed to identify a new gene mutation related to Waardenburg syndrome (WS), an inherited disorder causing hearing loss and pigmentation differences in the skin, hair, and eyes.
- Genetic analysis of a Chinese family using whole-exome and Sanger sequencing revealed a novel mutation (c.638A>G) linked to WS type I characteristics, including significant hearing loss and distinct eye color.
- This discovery adds to the genetic diversity associated with WS and highlights the necessity of recognizing ocular symptoms in all patients with the condition.
Aim: To explore the susceptible association between the insulin-like growth factor-1 receptor (IGF1R) single nucleotide polymorphism (SNP) and age-related cataract (ARC), and investigate the underlying mechanisms in human lens epithelium (HLE) cells.
Methods: Totally 1190 unrelated participants, comprising 690 ARC patients and 500 healthy individuals in Han Chinese population were recruited and genotyped for target SNP. The -test was used to detect genotypic distribution between the patient and control groups and the logistic regression was performed to adjust the age and gender.
Aim: To determine the association of () gene tag single-nucleotide polymorphisms (SNPs) with susceptibility to age-related cataract (ARC).
Methods: In total, 486 ARC patients were matched with 500 healthy controls. All the participants underwent complete ophthalmic examinations.
Aim: To explore the effect of parthenolide on hydrogen peroxide (HO)-induced apoptosis in human lens epithelial (HLE) cells.
Methods: The morphology and number of apoptotic HLE cells were assessed using light microscopy and flow cytometry. Cell viability was tested by MTS assay.