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Article

Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.

International journal of molecular sciences - 1 Dec 2017

Choi Jung-Yun, Han Kyu-Min, Kim Dongkyu, Lee Beom-Hee, Yoo Han-Wook, Choi Jin-Ho, Han Yong-Mahn

Abstract excerpt

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder caused by mutations in the extracellular signal-regulated kinase (ERK) signaling. However, little is known about how aberrant ERK signaling is associated with the defective bone development manifested in most CFC syndrome patients. In this study, induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts of a CFC syndrome patient...

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Share to Ectodermal Dysplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29194391
DOI: 10.3390/ijms18122591
PMCID: PMC5751194

Genes

SMAD1
SMAD2
BRAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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