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Article

Recapitulating and Correcting Marfan Syndrome in a Cellular Model.

International journal of biological sciences - 1 Jan 2017

Park Jung Woo, Yan Li, Stoddard Chris, Wang Xiaofang, Yue Zhichao, Crandall Leann, Robinson Tiwanna, Chang Yuxiao, Denton Kyle, Li Enqin, Jiang Bin, Zhang Zhenwu, Martins-Taylor Kristen, Yee Siu-Pok, Nie Hong, Gu Feng, Si Wei, Xie Ting, Yue Lixia, Xu Ren-He

Abstract excerpt

Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in FBN1 gene, which encodes a key extracellular matrix protein FIBRILLIN-1. The haplosufficiency of FBN1 has been implicated in pathogenesis of MFS with manifestations primarily in cardiovascular, muscular, and ocular tissues. Due to limitations in animal models to study the late-onset diseases, human pluripotent stem cells (PSCs) offer a...

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Identifiers

PMID: 28539832
DOI: 10.7150/ijbs.19517
PMCID: PMC5441176

Genes

FBN1

Provenance

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Related research

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Research trail→

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Recapitulating and Correcting Marfan Syndrome in a Cellular Model.PMID 28539832Read ↗

Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene.Semantic proximity Read ↗

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Generation of an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G > A mutation.Semantic proximity Read ↗

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