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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
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 matrix metallopeptidase 21 (MMP21), in nine index cases with hete...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620017/ https://www.ncbi.nlm.nih.gov/pubmed/26437028 http://dx.doi.org/10.1038/ng.3376 |
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| author | Guimier, Anne Gabriel, George C. Bajolle, Fanny Tsang, Michael Liu, Hui Noll, Aaron Schwartz, Molly El Malti, Rajae Smith, Laurie D. Klena, Nikolai T. Jimenez, Gina Miller, Neil A. Oufadem, Myriam Moreau de Bellaing, Anne Yagi, Hisato Saunders, Carol J. Baker, Candice N. Di Filippo, Sylvie Peterson, Kevin A. Thiffault, Isabelle Bole-Feysot, Christine Cooley, Linda D. Farrow, Emily G. Masson, Cécile Schoen, Patric Deleuze, Jean-François Nitschké, Patrick Lyonnet, Stanislas de Pontual, Loic Murray, Stephen A. Bonnet, Damien Kingsmore, Stephen F. Amiel, Jeanne Bouvagnet, Patrice Lo, Cecilia W. Gordon, Christopher T. |
| author_facet | Guimier, Anne Gabriel, George C. Bajolle, Fanny Tsang, Michael Liu, Hui Noll, Aaron Schwartz, Molly El Malti, Rajae Smith, Laurie D. Klena, Nikolai T. Jimenez, Gina Miller, Neil A. Oufadem, Myriam Moreau de Bellaing, Anne Yagi, Hisato Saunders, Carol J. Baker, Candice N. Di Filippo, Sylvie Peterson, Kevin A. Thiffault, Isabelle Bole-Feysot, Christine Cooley, Linda D. Farrow, Emily G. Masson, Cécile Schoen, Patric Deleuze, Jean-François Nitschké, Patrick Lyonnet, Stanislas de Pontual, Loic Murray, Stephen A. Bonnet, Damien Kingsmore, Stephen F. Amiel, Jeanne Bouvagnet, Patrice Lo, Cecilia W. Gordon, Christopher T. |
| author_sort | Guimier, Anne |
| collection | PubMed |
| description | 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 matrix metallopeptidase 21 (MMP21), in nine index cases with heterotaxy. In addition, Mmp21 mutant mice and morphant zebrafish display heterotaxy and abnormal cardiac looping, respectively, suggesting a novel role for extra-cellular remodeling in the establishment of laterality in vertebrates. |
| format | Online Article Text |
| id | pubmed-5620017 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-56200172017-09-28 MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates Guimier, Anne Gabriel, George C. Bajolle, Fanny Tsang, Michael Liu, Hui Noll, Aaron Schwartz, Molly El Malti, Rajae Smith, Laurie D. Klena, Nikolai T. Jimenez, Gina Miller, Neil A. Oufadem, Myriam Moreau de Bellaing, Anne Yagi, Hisato Saunders, Carol J. Baker, Candice N. Di Filippo, Sylvie Peterson, Kevin A. Thiffault, Isabelle Bole-Feysot, Christine Cooley, Linda D. Farrow, Emily G. Masson, Cécile Schoen, Patric Deleuze, Jean-François Nitschké, Patrick Lyonnet, Stanislas de Pontual, Loic Murray, Stephen A. Bonnet, Damien Kingsmore, Stephen F. Amiel, Jeanne Bouvagnet, Patrice Lo, Cecilia W. Gordon, Christopher T. Nat Genet Article 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 matrix metallopeptidase 21 (MMP21), in nine index cases with heterotaxy. In addition, Mmp21 mutant mice and morphant zebrafish display heterotaxy and abnormal cardiac looping, respectively, suggesting a novel role for extra-cellular remodeling in the establishment of laterality in vertebrates. 2015-10-05 2015-11 /pmc/articles/PMC5620017/ /pubmed/26437028 http://dx.doi.org/10.1038/ng.3376 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Guimier, Anne Gabriel, George C. Bajolle, Fanny Tsang, Michael Liu, Hui Noll, Aaron Schwartz, Molly El Malti, Rajae Smith, Laurie D. Klena, Nikolai T. Jimenez, Gina Miller, Neil A. Oufadem, Myriam Moreau de Bellaing, Anne Yagi, Hisato Saunders, Carol J. Baker, Candice N. Di Filippo, Sylvie Peterson, Kevin A. Thiffault, Isabelle Bole-Feysot, Christine Cooley, Linda D. Farrow, Emily G. Masson, Cécile Schoen, Patric Deleuze, Jean-François Nitschké, Patrick Lyonnet, Stanislas de Pontual, Loic Murray, Stephen A. Bonnet, Damien Kingsmore, Stephen F. Amiel, Jeanne Bouvagnet, Patrice Lo, Cecilia W. Gordon, Christopher T. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates |
| title | MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates |
| title_full | MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates |
| title_fullStr | MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates |
| title_full_unstemmed | MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates |
| title_short | MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates |
| title_sort | mmp21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620017/ https://www.ncbi.nlm.nih.gov/pubmed/26437028 http://dx.doi.org/10.1038/ng.3376 |
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