A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish.
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Nature Portfolio
2017
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oai:doaj.org-article:64436425aef44e6d84ebe13cff020fd42021-12-02T17:01:18ZA defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome10.1038/ncomms160772041-1723https://doaj.org/article/64436425aef44e6d84ebe13cff020fd42017-07-01T00:00:00Zhttps://doi.org/10.1038/ncomms16077https://doaj.org/toc/2041-1723During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish.Silvio Alessandro Di GioiaSamantha ConnorsNorisada MatsunamiJessica CannavinoMatthew F. RoseNicole M. GilettePietro ArtoniNara Lygia de Macena SobreiraWai-Man ChanBryn D. WebbCaroline D. RobsonLong ChengCarol Van RyzinAndres Ramirez-MartinezPayam MohasselMark LeppertMary Beth ScholandChristopher GrunseichCarlos R. FerreiraTyler HartmanIan M. HayesTim MorganDavid M. MarkieMichela FagioliniAmy SwiftPeter S. ChinesCarlos E. Speck-MartinsFrancis S. CollinsEthylin Wang JabsCarsten G. BönnemannEric N. OlsonMoebius Syndrome Research ConsortiumJohn C. CareyStephen P. RobertsonIrini ManoliElizabeth C. EngleNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-16 (2017) |
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DOAJ |
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DOAJ |
| language |
EN |
| topic |
Science Q |
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Science Q Silvio Alessandro Di Gioia Samantha Connors Norisada Matsunami Jessica Cannavino Matthew F. Rose Nicole M. Gilette Pietro Artoni Nara Lygia de Macena Sobreira Wai-Man Chan Bryn D. Webb Caroline D. Robson Long Cheng Carol Van Ryzin Andres Ramirez-Martinez Payam Mohassel Mark Leppert Mary Beth Scholand Christopher Grunseich Carlos R. Ferreira Tyler Hartman Ian M. Hayes Tim Morgan David M. Markie Michela Fagiolini Amy Swift Peter S. Chines Carlos E. Speck-Martins Francis S. Collins Ethylin Wang Jabs Carsten G. Bönnemann Eric N. Olson Moebius Syndrome Research Consortium John C. Carey Stephen P. Robertson Irini Manoli Elizabeth C. Engle A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome |
| description |
During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish. |
| format |
article |
| author |
Silvio Alessandro Di Gioia Samantha Connors Norisada Matsunami Jessica Cannavino Matthew F. Rose Nicole M. Gilette Pietro Artoni Nara Lygia de Macena Sobreira Wai-Man Chan Bryn D. Webb Caroline D. Robson Long Cheng Carol Van Ryzin Andres Ramirez-Martinez Payam Mohassel Mark Leppert Mary Beth Scholand Christopher Grunseich Carlos R. Ferreira Tyler Hartman Ian M. Hayes Tim Morgan David M. Markie Michela Fagiolini Amy Swift Peter S. Chines Carlos E. Speck-Martins Francis S. Collins Ethylin Wang Jabs Carsten G. Bönnemann Eric N. Olson Moebius Syndrome Research Consortium John C. Carey Stephen P. Robertson Irini Manoli Elizabeth C. Engle |
| author_facet |
Silvio Alessandro Di Gioia Samantha Connors Norisada Matsunami Jessica Cannavino Matthew F. Rose Nicole M. Gilette Pietro Artoni Nara Lygia de Macena Sobreira Wai-Man Chan Bryn D. Webb Caroline D. Robson Long Cheng Carol Van Ryzin Andres Ramirez-Martinez Payam Mohassel Mark Leppert Mary Beth Scholand Christopher Grunseich Carlos R. Ferreira Tyler Hartman Ian M. Hayes Tim Morgan David M. Markie Michela Fagiolini Amy Swift Peter S. Chines Carlos E. Speck-Martins Francis S. Collins Ethylin Wang Jabs Carsten G. Bönnemann Eric N. Olson Moebius Syndrome Research Consortium John C. Carey Stephen P. Robertson Irini Manoli Elizabeth C. Engle |
| author_sort |
Silvio Alessandro Di Gioia |
| title |
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome |
| title_short |
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome |
| title_full |
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome |
| title_fullStr |
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome |
| title_full_unstemmed |
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome |
| title_sort |
defect in myoblast fusion underlies carey-fineman-ziter syndrome |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/64436425aef44e6d84ebe13cff020fd4 |
| work_keys_str_mv |
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