Lamin A/C missense variants: from discovery to functional validation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://www.nature.com/articles/s41525-021-00266-w.pdf
Reference18 articles.
1. Lu, J. T., Muchir, A., Nagy, P. L. & Worman, H. J. LMNA cardiomyopathy: cell biology and genetics meet clinical medicine. Dis. Model Mech. 4, 562–568 (2011).
2. Shevelyov, Y. Y. & Ulianov, S. V. The nuclear lamina as an organizer of chromosome architecture. Cells 8, https://doi.org/10.3390/cells8020136 (2019).
3. Lin, F. & Worman, H. J. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem. 268, 16321–16326 (1993).
4. Ho, R. & Hegele, R. A. Complex effects of laminopathy mutations on nuclear structure and function. Clin. Genet. 95, 199–209 (2019).
5. Worman, H. J. & Bonne, G. “Laminopathies”: A wide spectrum of human diseases. Exp. Cell Res. 313, 2121–2133 (2007).
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