⮝ Full datasets listing
PXD038802-1
PXD038802 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Dental anomalies in Loeys-Dietz Syndrome Type II depend on NDRG1- Rac1/Cdc42-Myosin II |
| Description | Loeys-Dietz syndrome (LDS) is caused by mutations along the TGF-b signaling pathway and features aortic aneurysms and craniofacial dysmorphology. Patients with mutation in the TGFBR2 gene (LDS2, mutation in TGF-b receptor 2) exhibit distinct enamel defects with unclear pathophysiology. We used human specimens and a mouse model to further characterize enamel defects in LDS2 and to elucidate the mechanism that leads to this phenotype. In both human and mouse, LDS2 results in altered enamel ultrastructure with a loss of the decussation pattern of enamel rods and impaired biomechanical properties. Molecular analysis revealed that, enamel defects in LDS2 are not associated with changes in SMAD2/3 phosphorylation and downstream gene expression. Instead, the coordinated movement of ameloblasts that leads to enamel rod decussation is disrupted through NDRG1, Rac1/Cdc42 and Myosin II. This non-canonical effect of TGFBR2 mutation in the tooth is consistent with absence of severe enamel anomalies in other LDS subtypes. |
| HostingRepository | MassIVE |
| AnnounceDate | 2026-07-30 |
| AnnouncementXML | Submission_2026-07-30_06:57:30.074.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Yan Wang |
| SpeciesList | scientific name: Mus musculus; common name: house mouse; NCBI TaxID: 10090; |
| ModificationList | Phospho |
| Instrument | Orbitrap Fusion Lumos |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2022-12-13 12:35:34 | ID requested | |
| ⏵ 1 | 2026-07-30 06:57:30 | announced |
Publication List
| Duverger O, Wang SK, Liu QN, Wang Y, Martin D, Baena V, Syed ZA, Mendoza F, Nguyen TT, Frischmeyer-Guerrerio PA, Jani PH, Lee JS, Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II. J Dent Res, 104(8):840-850(2025) [pubmed] |
Keyword List
| submitter keyword: Loeys-Dietz syndrome, enamel defect, phosphoproteomics |
Contact List
| Yan Wang | |
|---|---|
| contact affiliation | NIH/NIDCR |
| contact email | wangyan2@nih.gov |
| lab head | |
| Yan Wang | |
| contact affiliation | NIH |
| contact email | yan.wang2@nih.gov |
| dataset submitter | |
Full Dataset Link List
| MassIVE dataset URI |
| Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://massive-ftp.ucsd.edu/v05/MSV000090896/ |
