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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor beta receptor in ten families with a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development. Despite evidence that receptors derived from selected mutated alleles cannot support TGFbeta signal propagation, cells derived from individuals heterozygous with respect to these mutations did not show altered kinetics of the acute phase response to administered ligand. Furthermore, tissues derived from affected individuals showed increased expression of both collagen and connective tissue growth factor, as well as nuclear enrichment of phosphorylated Smad2, indicative of increased TGFbeta signaling. These data definitively implicate perturbation of TGFbeta signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.
Authors : Loeys Bart L , Chen Junji , Neptune Enid R , Judge Daniel P , Podowski Megan , Holm Tammy , Meyers Jennifer , Leitch Carmen C , Katsanis Nicholas , Sharifi Neda , Xu F Lauren , Myers Loretha A , Spevak Philip J , Cameron Duke E , De Backer Julie , Hellemans Jan , Chen Yan , Davis Elaine C , Webb Catherine L , Kress Wolfram , Coucke Paul , Rifkin Daniel B , De Paepe Anne M , Dietz Harry C ,
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WP1045: TGF-beta Receptor Signaling Pathway
WP1048: TGF Beta Signaling Pathway
WP1114: MAPK signaling pathway
WP113: TGF Beta Signaling Pathway
WP1161: TGF-beta Receptor Signaling Pathway
WP1164: TGF Beta Signaling Pathway
WP230: TGF Beta Signaling Pathway
WP258: TGF-beta Receptor Signaling Pathway
WP358: MAPK signaling pathway
WP362: TGF-beta Receptor Signaling Pathway
WP382: MAPK signaling pathway
WP493: MAPK signaling pathway
WP505: TGF Beta Signaling Pathway
WP560: TGF Beta Signaling Pathway
WP769: MAPK signaling pathway
WP809: TGF-beta Receptor Signaling Pathway
WP812: TGF Beta Signaling Pathway
WP880: MAPK signaling pathway
WP926: TGF-beta Receptor Signaling Pathway
WP930: TGF Beta Signaling Pathway
WP998: MAPK signaling pathway
WP1037: p38 MAPK Signaling Pathway
WP1154: p38 MAPK Signaling Pathway
WP1337: MAPK signaling pathway
WP1367: TGF-beta Receptor Signaling Pathway
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