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Article

Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.

Proceedings of the National Academy of Sciences of the United States of America - 3 Jan 2012

Quarto Natalina, Leonard Brian, Li Shuli, Marchand Melanie, Anderson Erica, Behr Barry, Francke Uta, Reijo-Pera Renee, Chiao Eric, Longaker Michael T

Abstract excerpt

Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the gene coding for FIBRILLIN-1 (FBN1), an extracellular matrix protein. MFS is inherited as an autosomal dominant trait and displays major manifestations in the ocular, skeletal, and cardiovascular systems. Here we report molecular and phenotypic profiles of skeletogenesis in tissues differentiated from human embryonic stem...

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Identifiers

PMID: 22178754
DOI: 10.1073/pnas.1113442109
PMCID: PMC3252902

Genes

FBN1

Provenance

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Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.PMID 22178754Read ↗

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