PMC Links for Gene (Select 389827) - PMC

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Items: 4

Select item 58589501.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

Neurol Genet. 2018 Apr; 4(2): e226. Published online 2018 Mar 19. doi: 10.1212/NXG.0000000000000226

PMCID:: PMC5858950

Article PDF–388K

Select item 111050572.

The regulatory role of Myomaker and Myomixer–Myomerger–Minion in muscle development and regeneration

Bide Chen, Wenjing You, Yizhen Wang, Tizhong Shan

Cell Mol Life Sci. 2020 Apr; 77(8): 1551–1569. Published online 2019 Oct 23. doi: 10.1007/s00018-019-03341-9

PMCID:: PMC11105057

Abstract Article PDF–2.0M

Select item 55042963.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

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

Nat Commun. 2017; 8: 16077. Published online 2017 Jul 6. doi: 10.1038/ncomms16077