期刊
NATURE GENETICS
卷 47, 期 11, 页码 1260-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3376
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资金
- Fondation pour la Recherche Medicale (HeartGenomics)
- Agence Nationale de la Recherche [ANR-10-IAHU-01]
- Programme Hospitalier de Recherche Clinique (PHRC)
- Fondation Renaud Febvre
- National Institute of Child Health and Human Development (NICHD)
- National Human Genome Research Institute (NHGRI) [U19HD077693]
- National Center for Advancing Translational Sciences (NCATS
- CTSA grant) [TL1TR000120]
- National Heart, Lung, and Blood Institute (NHLBI) [U01HL098180, U01HL098188]
- National Institute of General Medical Sciences (NIGMS) [R01GM104412]
- US National Institutes of Health [S10RR029439]
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.
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