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1. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

Author

Barak, Tanyeri, Ristori, Emma, Ercan-Sencicek, A. Gulhan, Miyagishima, Danielle F., Nelson-Williams, Carol, Dong, Weilai, Jin, Sheng Chih, Prendergast, Andrew, Armero, William, Henegariu, Octavian, Erson-Omay, E. Zeynep, Harmancı, Akdes Serin, Guy, Mikhael, Gültekin, Batur, Kilic, Deniz, Rai, Devendra K., Goc, Nükte, Aguilera, Stephanie Marie, Gülez, Burcu, Altinok, Selin, Ozcan, Kent, Yarman, Yanki, Coskun, Süleyman, Sempou, Emily, Deniz, Engin, Hintzen, Jared, Cox, Andrew, Fomchenko, Elena, Jung, Su Woong, Ozturk, Ali Kemal, Louvi, Angeliki, Bilgüvar, Kaya, Connolly, Jr., E. Sander, Khokha, Mustafa K., Kahle, Kristopher T., Yasuno, Katsuhito, Lifton, Richard P., Mishra-Gorur, Ketu, Nicoli, Stefania, and Günel, Murat

Published
2021
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2. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

Author

Mishra-Gorur, Ketu, primary, Barak, Tanyeri, additional, Kaulen, Leon D., additional, Henegariu, Octavian, additional, Jin, Sheng Chih, additional, Aguilera, Stephanie Marie, additional, Yalbir, Ezgi, additional, Goles, Gizem, additional, Nishimura, Sayoko, additional, Miyagishima, Danielle, additional, Djenoune, Lydia, additional, Altinok, Selin, additional, Rai, Devendra K., additional, Viviano, Stephen, additional, Prendergast, Andrew, additional, Zerillo, Cynthia, additional, Ozcan, Kent, additional, Baran, Burcin, additional, Sencar, Leman, additional, Goc, Nukte, additional, Yarman, Yanki, additional, Ercan-Sencicek, A. Gulhan, additional, Bilguvar, Kaya, additional, Lifton, Richard P., additional, Moliterno, Jennifer, additional, Louvi, Angeliki, additional, Yuan, Shiaulou, additional, Deniz, Engin, additional, Brueckner, Martina, additional, and Gunel, Murat, additional

Published
2023
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3. Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.

Author

Mishra-Gorur, Ketu, Barak, Tanyeri, Kaulen, Leon D., Henegariu, Octavian, Sheng Chih Jin, 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, and Goc, Nukte

Subjects
CONGENITAL heart disease, CARDIAC patients, GENETIC mutation, MEDICAL genetics, ATRIAL septal defects, HUMAN genetics
Abstract

This document is a reply to a letter regarding the pathogenicity of inherited TRAF7 mutations in congenital heart disease. The authors of the reply defend their previous manuscript, which reported the association of TRAF7 variants with congenital heart disease based on experimental data and in silico tools. They argue that their findings are supported by previous research on TRAF7 mutations in syndromic cases and cancer. They also address specific criticisms and limitations of their study, emphasizing the need for further experimental research to understand the mechanisms and phenotypic spectrum of TRAF7 mutations. [Extracted from the article]

Published
2024
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4. PPIL4is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

Author

Barak, Tanyeri, Ristori, Emma, Ercan-Sencicek, A. Gulhan, Miyagishima, Danielle F., Nelson-Williams, Carol, Dong, Weilai, Jin, Sheng Chih, Prendergast, Andrew, Armero, William, Henegariu, Octavian, Erson-Omay, E. Zeynep, Harmancı, Akdes Serin, Guy, Mikhael, Gültekin, Batur, Kilic, Deniz, Rai, Devendra K., Goc, Nükte, Aguilera, Stephanie Marie, Gülez, Burcu, Altinok, Selin, Ozcan, Kent, Yarman, Yanki, Coskun, Süleyman, Sempou, Emily, Deniz, Engin, Hintzen, Jared, Cox, Andrew, Fomchenko, Elena, Jung, Su Woong, Ozturk, Ali Kemal, Louvi, Angeliki, Bilgüvar, Kaya, Connolly, E. Sander, Khokha, Mustafa K., Kahle, Kristopher T., Yasuno, Katsuhito, Lifton, Richard P., Mishra-Gorur, Ketu, Nicoli, Stefania, and Günel, Murat

Abstract

Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset disease that often causes death or severe disability. Although genome-wide association studies have identified common genetic variants that increase IA risk moderately, the contribution of variants with large effect remains poorly defined. Using whole-exome sequencing, we identified significant enrichment of rare, deleterious mutations in PPIL4, encoding peptidyl-prolyl cis-transisomerase-like 4, in both familial and index IA cases. Ppil4depletion in vertebrate models causes intracerebral hemorrhage, defects in cerebrovascular morphology and impaired Wnt signaling. Wild-type, but not IA-mutant, PPIL4 potentiates Wnt signaling by binding JMJD6, a known angiogenesis regulator and Wnt activator. These findings identify a novel PPIL4-dependent Wnt signaling mechanism involved in brain-specific angiogenesis and maintenance of cerebrovascular integrity and implicate PPIL4gene mutations in the pathogenesis of IA.

Published
2021
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