2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.Peer-Reviewed Original ResearchConceptsWild-type proteinInherited mutationsCardiac outflow tractDevelopmental heart defectsProtein functionLack ciliaPleiotropic rolesMechanistic convergenceNeural crestCiliary defectsSomatic variantsForebrain meningesCommon originDominant mannerMutationsTRAF7ZebrafishMutantsDisparate pathologiesHeterodimerizationKnockdownGeneticsProteinCiliaCongenital heart
1997
Growth-Promoting Interaction of IGF-II with the Insulin Receptor during Mouse Embryonic Development
Louvi A, Accili D, Efstratiadis A. Growth-Promoting Interaction of IGF-II with the Insulin Receptor during Mouse Embryonic Development. Developmental Biology 1997, 189: 33-48. PMID: 9281335, DOI: 10.1006/dbio.1997.8666.Peer-Reviewed Original ResearchConceptsInsulin receptorGrowth-promoting interactionsMouse embryonic developmentMouse embryonic growthLigand/receptor interactionsGrowth-promoting functionEmbryonic day 13.5IGF-IINull mutantsTargeted MutagenesisGrowth of embryosMouse embryogenesisDouble mutantTriple mutantEmbryonic developmentGenetic evidenceIGF1R resultsOrgan hypoplasiaGenetic analysisMutantsEmbryonic growthType 1 IGF receptorDay 13.5Receptor interactionEmbryos