Article
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jun 2020
Micale Lucia, Morlino Silvia, Biagini Tommaso, Carbone Annalucia, Fusco Carmela, Ritelli Marco, Giambra Vincenzo, Zoppi Nicoletta, Nardella Grazia, Notarangelo Angelantonio, Schirizzi Annalisa, Mazzoccoli Gianluigi, Grammatico Paola, Wade Emma M, Mazza Tommaso, Colombi Marina, Castori Marco
Abstract excerpt
Transforming growth factor beta-activated kinase 1 (TAK1) is a highly conserved kinase protein encoded by MAP3K7, and activated by multiple extracellular stimuli, growth factors and cytokines. Heterozygous variants in MAP3K7 cause the cardiospondylocarpofacial syndrome (CSCFS) which is characterized by short stature, dysmorphic facial features, cardiac septal defects with valve dysplasia, and skeletal anomalies....
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