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Article

Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes.

Cell stem cell - 6 May 2021

Shah Parisha P, Lv Wenjian, Rhoades Joshua H, Poleshko Andrey, Abbey Deepti, Caporizzo Matthew A, Linares-Saldana Ricardo, Heffler Julie G, Sayed Nazish, Thomas Dilip, Wang Qiaohong, Stanton Liam J, Bedi Kenneth, Morley Michael P, Cappola Thomas P, Owens Anjali T, Margulies Kenneth B, Frank David B, Wu Joseph C, Rader Daniel J, Yang Wenli, Prosser Benjamin L, Musunuru Kiran, Jain Rajan

Abstract excerpt

Pathogenic mutations in LAMIN A/C (LMNA) cause abnormal nuclear structure and laminopathies. These diseases have myriad tissue-specific phenotypes, including dilated cardiomyopathy (DCM), but how LMNA mutations result in tissue-restricted disease phenotypes remains unclear. We introduced LMNA mutations from individuals with DCM into human induced pluripotent stem cells (hiPSCs) and found that hiPSC-derived...

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Identifiers

PMID: 33529599
DOI: 10.1016/j.stem.2020.12.016
PMCID: PMC8106635

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Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes.PMID 33529599Read ↗

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