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2 results on '"Yalbir E"'

1. Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.

Author

Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Encicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, and Gunel M

Subjects
Humans, Virulence, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, Germ-Line Mutation, Heart Defects, Congenital genetics
Abstract

Competing Interests: Competing interests statement:The authors declare no competing interest.

Published
2024
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2. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.

Author

Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, and Gunel M

Subjects
Animals, Adaptor Proteins, Signal Transducing metabolism, Mutation, Skull metabolism, Zebrafish genetics, Zebrafish metabolism, Zebrafish Proteins genetics, Humans, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, Heart Defects, Congenital genetics, Meningeal Neoplasms genetics, Meningioma genetics, Meningioma pathology
Abstract

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 traced to the common origin of forebrain meninges and cardiac outflow tract from the TRAF7- expressing neural crest. Somatic and inherited mutations disrupt TRAF7-IFT57 interactions leading to cilia degradation.  TRAF7 -mutant meningioma primary cultures lack cilia, and TRAF7 knockdown causes cardiac, craniofacial, and ciliary defects in  Xenopus and zebrafish, suggesting a mechanistic convergence for  TRAF7 -driven meningiomas and developmental heart defects.

Published
2023
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