# Connective tissue disorders research

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/connective-tissue-disorders-research-2/

## Facts

| Field | Value |
| --- | --- |
| Citations | 865,976 |
| Description | This cluster of papers explores genetic and molecular aspects of various connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and Osteogenesis Imperfecta. It delves into mutations in genes encoding proteins like TGF-ß receptor, elastin, fibrillin-1, and collagen, as well as their implications in aortic aneurysms and skeletal abnormalities. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | https://openalex.org/T11310 |
| Works | 67,095 |

## Topic researchers

Showing 12 of 20.

- [Eric S. Lander](https://scholariq.org/researchers/eric-s-lander/)
- [Mark J. Daly](https://scholariq.org/researchers/mark-j-daly/)
- [Bert Vogelstein](https://scholariq.org/researchers/bert-vogelstein/)
- [Giuseppe Remuzzi](https://scholariq.org/researchers/giuseppe-remuzzi/)
- [John P. A. Ioannidis](https://scholariq.org/researchers/john-p-a-ioannidis/)
- [Richard A. Gibbs](https://scholariq.org/researchers/richard-a-gibbs/)
- [John Q. Trojanowski](https://scholariq.org/researchers/john-q-trojanowski/)
- [Cornelia M. van Duijn](https://scholariq.org/researchers/cornelia-m-van-duijn/)
- [André G. Uitterlinden](https://scholariq.org/researchers/andre-g-uitterlinden/)
- [Jeroen J. Bax](https://scholariq.org/researchers/jeroen-j-bax/)
- [Eric Boerwinkle](https://scholariq.org/researchers/eric-boerwinkle/)
- [Aviv Regev](https://scholariq.org/researchers/aviv-regev/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.