Matches in SemOpenAlex for { <https://semopenalex.org/work/W2114232003> ?p ?o ?g. }
- W2114232003 endingPage "281" @default.
- W2114232003 startingPage "275" @default.
- W2114232003 abstract "We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor β 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 TGFβ 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 TGFβ signaling. These data definitively implicate perturbation of TGFβ 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." @default.
- W2114232003 created "2016-06-24" @default.
- W2114232003 creator A5002468319 @default.
- W2114232003 creator A5004924184 @default.
- W2114232003 creator A5011840616 @default.
- W2114232003 creator A5018585488 @default.
- W2114232003 creator A5023058060 @default.
- W2114232003 creator A5023632813 @default.
- W2114232003 creator A5034002854 @default.
- W2114232003 creator A5037458498 @default.
- W2114232003 creator A5038027788 @default.
- W2114232003 creator A5042051309 @default.
- W2114232003 creator A5043192139 @default.
- W2114232003 creator A5045578157 @default.
- W2114232003 creator A5058708316 @default.
- W2114232003 creator A5061949117 @default.
- W2114232003 creator A5063534356 @default.
- W2114232003 creator A5064720631 @default.
- W2114232003 creator A5065431323 @default.
- W2114232003 creator A5066526118 @default.
- W2114232003 creator A5070413566 @default.
- W2114232003 creator A5076454382 @default.
- W2114232003 creator A5080973304 @default.
- W2114232003 creator A5088332651 @default.
- W2114232003 creator A5089957809 @default.
- W2114232003 creator A5089961369 @default.
- W2114232003 date "2005-01-30" @default.
- W2114232003 modified "2023-10-16" @default.
- W2114232003 title "A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2" @default.
- W2114232003 cites W1575754639 @default.
- W2114232003 cites W157700276 @default.
- W2114232003 cites W1586552615 @default.
- W2114232003 cites W1967510639 @default.
- W2114232003 cites W1970084196 @default.
- W2114232003 cites W1978146894 @default.
- W2114232003 cites W1983313606 @default.
- W2114232003 cites W2001584235 @default.
- W2114232003 cites W2050022621 @default.
- W2114232003 cites W2051155595 @default.
- W2114232003 cites W2053146170 @default.
- W2114232003 cites W2065349942 @default.
- W2114232003 cites W2071187539 @default.
- W2114232003 cites W2078780001 @default.
- W2114232003 cites W2082549292 @default.
- W2114232003 cites W2084954119 @default.
- W2114232003 cites W2101314011 @default.
- W2114232003 cites W2110835444 @default.
- W2114232003 cites W2118898660 @default.
- W2114232003 cites W2122588714 @default.
- W2114232003 cites W2134024560 @default.
- W2114232003 cites W2146979392 @default.
- W2114232003 cites W2167966527 @default.
- W2114232003 cites W2332067271 @default.
- W2114232003 cites W4239468325 @default.
- W2114232003 doi "https://doi.org/10.1038/ng1511" @default.
- W2114232003 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15731757" @default.
- W2114232003 hasPublicationYear "2005" @default.
- W2114232003 type Work @default.
- W2114232003 sameAs 2114232003 @default.
- W2114232003 citedByCount "1513" @default.
- W2114232003 countsByYear W21142320032012 @default.
- W2114232003 countsByYear W21142320032013 @default.
- W2114232003 countsByYear W21142320032014 @default.
- W2114232003 countsByYear W21142320032015 @default.
- W2114232003 countsByYear W21142320032016 @default.
- W2114232003 countsByYear W21142320032017 @default.
- W2114232003 countsByYear W21142320032018 @default.
- W2114232003 countsByYear W21142320032019 @default.
- W2114232003 countsByYear W21142320032020 @default.
- W2114232003 countsByYear W21142320032021 @default.
- W2114232003 countsByYear W21142320032022 @default.
- W2114232003 countsByYear W21142320032023 @default.
- W2114232003 crossrefType "journal-article" @default.
- W2114232003 hasAuthorship W2114232003A5002468319 @default.
- W2114232003 hasAuthorship W2114232003A5004924184 @default.
- W2114232003 hasAuthorship W2114232003A5011840616 @default.
- W2114232003 hasAuthorship W2114232003A5018585488 @default.
- W2114232003 hasAuthorship W2114232003A5023058060 @default.
- W2114232003 hasAuthorship W2114232003A5023632813 @default.
- W2114232003 hasAuthorship W2114232003A5034002854 @default.
- W2114232003 hasAuthorship W2114232003A5037458498 @default.
- W2114232003 hasAuthorship W2114232003A5038027788 @default.
- W2114232003 hasAuthorship W2114232003A5042051309 @default.
- W2114232003 hasAuthorship W2114232003A5043192139 @default.
- W2114232003 hasAuthorship W2114232003A5045578157 @default.
- W2114232003 hasAuthorship W2114232003A5058708316 @default.
- W2114232003 hasAuthorship W2114232003A5061949117 @default.
- W2114232003 hasAuthorship W2114232003A5063534356 @default.
- W2114232003 hasAuthorship W2114232003A5064720631 @default.
- W2114232003 hasAuthorship W2114232003A5065431323 @default.
- W2114232003 hasAuthorship W2114232003A5066526118 @default.
- W2114232003 hasAuthorship W2114232003A5070413566 @default.
- W2114232003 hasAuthorship W2114232003A5076454382 @default.
- W2114232003 hasAuthorship W2114232003A5080973304 @default.
- W2114232003 hasAuthorship W2114232003A5088332651 @default.
- W2114232003 hasAuthorship W2114232003A5089957809 @default.
- W2114232003 hasAuthorship W2114232003A5089961369 @default.
- W2114232003 hasBestOaLocation W21142320032 @default.