Article
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.
Nature medicine - 1 Dec 2021
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, Günel Murat
Abstract excerpt
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...
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