Publications by authors named "Xing-Yue Dong"
Article Synopsis
- - The study investigates a family with a history of tooth agenesis (TA) linked to mutations in the LRP6 gene through clinical and genetic evaluations, including whole-exome sequencing (WES).
- - A novel variant (c.2570G > A) was identified in six family members, with evidence suggesting it may impair the protein's Wnt bonding ability and disrupt Wnt signaling despite not affecting gene transcription.
- - The research enhances understanding of mutations associated with tooth agenesis and highlights the importance of specific genetic variants in the functional dynamics of the LRP6 protein.
Dental pulp stem cells (DPSCs) play a vital role in tooth restoration, regeneration, and homeostasis. The link between DPSC senescence and tooth aging has been well-recognized. ROR2 plays an important role in aging-related gene expression.
View Article and Find Full Text PDFPrevious studies have suggested that pathogenic variants in interferon regulatoryse factor 6 (IRF6) can account for almost 70% of familial Van der Woude Syndrome (VWS) cases. However, gene modifiers that account for the phenotypic variability of IRF6 in the context of VWS remain poorly characterized. The aim of this study was to report a family with VWS with variable expressivity and to identify the genetic cause.
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