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
2011
Cilia in the CNS: The Quiet Organelle Claims Center Stage
Louvi A, Grove EA. Cilia in the CNS: The Quiet Organelle Claims Center Stage. Neuron 2011, 69: 1046-1060. PMID: 21435552, PMCID: PMC3070490, DOI: 10.1016/j.neuron.2011.03.002.Peer-Reviewed Original ResearchConceptsPrimary ciliaSonic hedgehog (Shh) signal transductionHedgehog signal transductionHuman disease syndromesProtein traffickingBrain tumor formationSignal transductionCellular organellesGenetic disruptionSpecialized modeNeuronal signalingCiliaTumor formationAdult CNSAdult neurogenesisEukaryotesVertebratesOrganellesTransductionTraffickingSignalingBiologyDisease syndromeMajor linesNeurogenesis