| First Author | Guimier A | Year | 2015 |
| Journal | Nat Genet | Volume | 47 |
| Issue | 11 | Pages | 1260-3 |
| PubMed ID | 26437028 | Mgi Jnum | J:227342 |
| Mgi Id | MGI:5700258 | Doi | 10.1038/ng.3376 |
| Citation | Guimier A, et al. (2015) MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nat Genet 47(11):1260-3 |
| abstractText | Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates. |
