2024
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in 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, Rai D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-encicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2319578121. PMID: 38466853, PMCID: PMC10963000, DOI: 10.1073/pnas.2319578121.Commentaries, Editorials and Letters
2023
A systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma.
Miyagishima D, Sundaresan V, Gutierrez A, Barak T, Yeung J, Moliterno J, McGuone D, Claus E, Günel M. A systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma. Journal Of Neurosurgery 2023, 139: 1638-1647. PMID: 37243565, PMCID: PMC10226381, DOI: 10.3171/2023.3.jns221838.Peer-Reviewed Original ResearchConceptsIndividual participant dataHR statusProgesterone receptorAndrogen receptorEstrogen receptorHormone receptorsFemale patientsParticipant dataSystematic reviewGonadal steroid hormone receptorsRisk of biasGonadal steroid hormonesPubMed literature reviewProper patient stratificationSkull base locationSteroid hormone receptorsHormonal therapyER expressionUnduplicated articlesFemale sexGrade IIndependent associationPatient stratificationConvexity locationStudy heterogeneityPleiotropic 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