Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

While somatic variants of TRAF7 (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of TRAF7 that cause congenital heart defects. We show that TRAF7 mutants operate in a dominant manner, inhibiting protein function via...

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Detalles Bibliográficos
Autores principales: Mishra-Gorur, Ketu, Barak, Tanyeri, Kaulen, Leon D., Henegariu, Octavian, Jin, Sheng Chih, Aguilera, Stephanie Marie, Yalbir, Ezgi, Goles, Gizem, Nishimura, Sayoko, Miyagishima, Danielle, Djenoune, Lydia, Altinok, Selin, Rai, Devendra K., Viviano, Stephen, Prendergast, Andrew, Zerillo, Cynthia, Ozcan, Kent, Baran, Burcin, Sencar, Leman, Goc, Nukte, Yarman, Yanki, Ercan-Sencicek, A. Gulhan, Bilguvar, Kaya, Lifton, Richard P., Moliterno, Jennifer, Louvi, Angeliki, Yuan, Shiaulou, Deniz, Engin, Brueckner, Martina, Gunel, Murat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120005/
https://www.ncbi.nlm.nih.gov/pubmed/37043537
http://dx.doi.org/10.1073/pnas.2214997120

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