Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking

CONTEXT: TMEM127 is a poorly known tumor suppressor gene associated with pheochromocytomas, paragangliomas, and renal carcinomas. Our incomplete understanding of TMEM127 function has limited our ability to predict variant pathogenicity. PURPOSE: To better understand the function of the transmembrane...

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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: Flores, Shahida K, Deng, Yilun, Cheng, Ziming, Zhang, Xingyu, Tao, Sifan, Saliba, Afaf, Chu, Irene, Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Wang, Exing, Aguiar, Ricardo C T, Dahia, Patricia L M
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Clinical Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7414969/
https://ncbi.nlm.nih.gov/pubmed/32575117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa396
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