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Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.

Stem cell research - 1 Aug 2022

Calamaio Serena, Serzanti Marialaura, Morlino Silvia, Massardi Marialuisa, Ritelli Marco, Piovani Giovanna, Colombi Marina, Cortellini Venusia, Castori Marco, Dell'Era Patrizia, Micale Lucia

Abstract excerpt

TAK1 is a serine threonine kinase that mediates signal transduction induced by TGFβ and bone morphogenetic proteins, and controls a variety of cell functions by modulating the downstream activation of NF-kkB, JNK, and p38. Heterozygous variants in the coding MAP3K7 gene cause the cardiospondylocarpofacial syndrome, characterized by various abnormalities. Skin fibroblasts derived from a patient carrying the MAP3K7...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35700636
DOI: 10.1016/j.scr.2022.102837

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Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.PMID 35700636Read ↗

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.Semantic proximity Read ↗

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.Semantic proximity Read ↗

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