2023
169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation
Mekbib K, Zhao S, Nelson-Williams C, Prendergast A, Zeng X, Rolle M, Shohfi J, Smith H, Ocken J, Moyer Q, Piwowarczyk P, Allington G, Dong W, van der Ent M, Chen D, Li B, Duran D, Mane S, Walcott B, Stapleton C, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith E, Orbach D, Berenstein A, Bilguvar K, Zhao H, Erson-Omay Z, King P, Huttner A, Lifton R, Boggon T, Nicoli S, Jin S, Kahle K. 169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation. Neurosurgery 2023, 69: 22-22. DOI: 10.1227/neu.0000000000002375_169.Peer-Reviewed Original ResearchPathway analysisP120 Ras-GAPExome sequencingSevere vascular defectsGalen aneurysmal malformationReceptor tyrosine kinase activityTyrosine kinase activityDamaging de novoMutant embryosRas-GAPSignaling networksGenetic regulationRas activationAneurysmal malformationZebrafish modelDe novo mutationsKinase activityDisease genesAxon guidanceGenetic samplesWhole-exome sequencingHigh-output heart failureFunctional studiesCollected specimensSequencing
1993
Insulin-Stimulated Oocyte Maturation Requires Insulin Receptor Substrate 1 and Interaction with the SH2 Domains of Phosphatidylinositol 3-Kinase
Chuang L, Myers M, Backer J, Shoelson S, White M, Birnbaum M, Kahin C. Insulin-Stimulated Oocyte Maturation Requires Insulin Receptor Substrate 1 and Interaction with the SH2 Domains of Phosphatidylinositol 3-Kinase. Molecular And Cellular Biology 1993, 13: 6653-6660. DOI: 10.1128/mcb.13.11.6653-6660.1993.Peer-Reviewed Original ResearchSrc homology 2 domainSrc homology 2PtdIns 3-kinaseSrc homology 2 domains of p85Glutathione S-transferase fusion proteinS-transferase fusion proteinDomains of p85IRS-1Ras-GAPP85 subunit of PtdIns 3-kinaseFusion proteinActivation of PtdIns 3-kinasePtdIns 3-kinase activitySubstrate 1Phosphorylation of IRS-1IRS-1 associationInsulin receptor substrate 1Insulin-stimulated phosphatidylinositolIRS-1 proteinPhosphorylated IRS-1Progesterone-induced oocyte maturationP85 subunitOocyte maturationInsulin signalingResponse to hormonal stimulation
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