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

doi:10.1073/pnas.2214997120

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Article

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 - 18 Apr 2023

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

Abstract excerpt

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 heterodimerization with wild-type protein. Further, the shared genetics of the two disparate pathologies can be...

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PMID: 37043537
DOI: 10.1073/pnas.2214997120
PMCID: PMC10120005

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