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TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation.
Guo Q, Cheng ZM, Gonzalez-Cantú H, Rotondi M, Huelgas-Morales G, Ethiraj P, Qiu Z, Lefkowitz J, Song W, Landry BN, Lopez H, Estrada-Zuniga CM, Goyal S, Khan MA, Walker TJ, Wang E, Li F, Ding Y, Mulligan LM, Aguiar RCT, Dahia PLM. Guo Q, et al. Cell Rep. 2023 Sep 26;42(9):113070. doi: 10.1016/j.celrep.2023.113070. Epub 2023 Sep 1. Cell Rep. 2023. PMID: 37659079 Free PMC article.
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Salgado SA, Jimenez C, Fishbein L, Hamidi O, Else T, Lechan R, Tischler AS, Benn DE, Dwight T, Clifton-Bligh R, Sanso G, Barontini M, Vincent D, Aronin N, Biondi B, Koops M, Bowhay-Carnes E, Gimenez-Roqueplo AP, Alvarez-Eslava A, Bruder JM, Kitano M, Burnichon N, Ding Y, Dahia PLM. Armaiz-Pena G, et al. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e350-e364. doi: 10.1210/clinem/dgaa741. J Clin Endocrinol Metab. 2021. PMID: 33051659 Free PMC article.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP. Buffet A, et al. J Med Genet. 2020 Nov;57(11):752-759. doi: 10.1136/jmedgenet-2019-106519. Epub 2020 Jan 29. J Med Genet. 2020. PMID: 31996412 Free PMC article.
Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease.
Flores SK, Cheng Z, Jasper AM, Natori K, Okamoto T, Tanabe A, Gotoh K, Shibata H, Sakurai A, Nakai T, Wang X, Zethoven M, Balachander S, Aita Y, Young W, Zheng S, Takekoshi K, Nakamura E, Tothill RW, Aguiar RCT, Dahia PLM. Flores SK, et al. J Clin Endocrinol Metab. 2019 Sep 1;104(9):3826-3834. doi: 10.1210/jc.2019-00235. J Clin Endocrinol Metab. 2019. PMID: 30946460 Free PMC article.