Welcome to Wang's Lab!

Background Brain Background Heart

Somatic cells continuously accumulate genetic variations, which is significantly influenced by environmental factors. Our group focuses on cardiovascular genetics, particularly the role of somatic mutations in cardiovascular diseases. Recently, we established the somatic genetic mechanisms underlying arteriovenous malformations, cavernous malformations, and hypertrophic cardiomyopathy, linked to KRAS/BRAF, MAP3K3/PIK3CA, and NAP1L1 gene variants, respectively. These findings account for approximately 87%, 91%, and 25% of previously unexplained cases. We are still exploring on other cardiovascular phenotypes.

Some data could not be shown in published papers, so we gradually upload those data here.

We are committed to sharing our data with colleagues, as collaborative efforts will enhance our understanding of these diseases. The more data we gather, the deeper our insights into their underlying mechanisms, ultimately enabling earlier and more effective treatments.

Cavernous Malformations Cavernous malformations Cerebrovascular Malformations Cerebrovascular Malformations
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy

Selected Publications

  1. Li R, Tang Y, Wang H, et al. Local DIO2 elevation is an adaption in malformed cerebrovasculature. Circ Res. 2025 Mar 25 doi: 10.1161/CIRCRESAHA.124.325857.
  2. Lv C, Alimu X, Xiao X, et al. Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling. Nat Commun. 2025 16(1):3140.doi:10.1038/s41467-025-58453-7
  3. Xiao X, Li R, Cui B, et al. Liver ACSM3 deficiency mediates metabolic syndrome via a lauric acid-HNF4α-p38 MAPK axis. EMBO J. 2024 Feb;43(4):507-532. doi: 10.1038/s44318-023-00020-1. (with View)
  4. Wang H, Yu L, Wang J, et al. SLC35D3 promotes white adipose tissue browning to ameliorate obesity by NOTCH signaling. Nat Commun. 2023 Nov 23;14(1):7643. doi: 10.1038/s41467-023-43418-5.
  5. Yu L, Xu M, Yan Y, et al. ZFYVE28 mediates insulin resistance by promoting phosphorylated insulin receptor degradation via increasing late endosomes production. Nat Commun. 2023 Oct 26;14(1):6833. doi: 10.1038/s41467-023-42657-w.
  6. Li R, Xiao X, Yan Y, et al. GPRASP1 loss-of-function links to arteriovenous malformations by endothelial activating GPR4 signals. Brain 2024 Apr 4;147(4):1571-1586.
  7. Ren J, Xiao X, Li R, et al. Single-cell sequencing reveals endothelial cells, EndMT cells and mural cells contribute to the pathogenesis of cavernous malformations. Exp Mol Med. 2023 Mar;55(3):628-642.
  8. Xiao X, Li R, Wu C, et al. A genome-wide association study identifies a novel association between SDC3 and apparent treatment-resistant hypertension. BMC Med. 2022 Nov 30;20(1):463. doi: 10.1186/s12916-022-02665-x.
  9. Yan Y, Wang J, Yu L, et al. ANKRD36 Is Involved in Hypertension by Altering ENaC Genes Expression. Circ Res. 2021 Nov 12;129(11):1067-1081.
  10. Cui B, Xiao X, Wang J, et al. Low THRB (thyroid hormone receptor beta) Promoter Methylation Levels in Peripheral Blood Leukocytes Induced By Systematic Inflammation Are Involved in Low Thyroid Hormone Function in Metabolic Syndrome. Hypertension. 2021 Sep;78(4):1005-1015.
  11. Hong T, Xiao X, Ren J, et al. Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations. Brain. 2021 Oct 22;144(9):2648-2658. (with Cover Story)
  12. Hong T, Yan Y, Li J, et al. High prevalence of KRAS/BRAF somatic mutations in brain and spinal cord arteriovenous malformations. Brain. 2019 Jan 1;142(1):23-34.