MST1R Gene Variants Predispose Individuals to Tetralogy of Fallot
Zhiyu Feng, Xianghui Huang, Yuan Gao, Han Gao, Weilan Na, Chaozhong Tan, Shaojie Min, Yuquan Lu, Quannan Zhuang, Siyi Lin, Xiaojing Ma, Weicheng Chen, Weili Yan, Wei Sheng, Guoying Huang · 2025
Read MST1R Gene Variants Predispose Individuals to Tetralogy of Fallot by Zhiyu Feng, Xianghui Huang, Yuan Gao, Han Gao, Weilan Na, Chaozhong Tan, Shaojie Min, Yuquan Lu, Quannan Zhuang, Siyi Lin, Xiaojing Ma, Weicheng Chen, Weili Yan, Wei Sheng, Guoying Huang (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11889330.txt.
Description
Tetralogy of Fallot is the most common heart malformation that turns babies blue from low oxygen. A large team hunted its genetic roots by sequencing ten affected families and fifty unrelated patients. In one family, two children carried the same rare change in a gene called MST1R, inherited from both parents.
Scanning 417 more patients showed rare changes in that gene more often than in population data. Stem cells lacking the gene still grew normally but formed heart cells that failed to work. The study appeared in 2024, though the catalog lists 2025. The authors conclude the gene helps guide heart formation, and its faults may help cause this defect.
Catalog record
| CREATOR | Zhiyu Feng, Xianghui Huang, Yuan Gao, Han Gao, Weilan Na, Chaozhong Tan, Shaojie Min, Yuquan Lu, Quannan Zhuang, Siyi Lin, Xiaojing Ma, Weicheng Chen, Weili Yan, Wei Sheng, Guoying Huang |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 38 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |