OR29-5 New Insights into the Genotype/Phenotype Profile of TMEM127 Germline Mutations

nork Armaiz-Pena, Gustavo, Flores, Shahida, Cheng, Zi-Ming, Deng, Yilun, Koops, Maureen, Bruder, Jan, Dahia, Patricia
Argitaratua izan da J Endocr Soc (2019)

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation

nork Deng, Yilun, Flores, Shahida K., Cheng, ZiMing, Qin, Yuejuan, Schwartz, Robin C., Malchoff, Carl, Dahia, Patricia L. M.
Argitaratua izan da Endocr Relat Cancer (2017)

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation

nork Deng, Yilun, Flores, Shahida K, Cheng, ZiMing, Qin, Yuejuan, Schwartz, Robin C, Malchoff, Carl, Dahia, Patricia L M
Argitaratua izan da Endocr Relat Cancer (2018)

The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex

nork Deng, Yilun, Qin, Yuejuan, Srikantan, Subramanya, Luo, Anqi, Cheng, Zi-Ming, Flores, Shahida K, Vogel, Kris S, Wang, Exing, Dahia, Patricia L M
Argitaratua izan da Hum Mol Genet (2018)

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease

nork Vaidya, Anand, Flores, Shahida K., Cheng, Zi-Ming, Nicolas, Marlo, Deng, Yilun, Opotowsky, Alexander R., Lourenço, Delmar M., Barletta, Justine A., Rana, Huma Q., Pereira, M. Adelaide, Toledo, Rodrigo A., Dahia, Patricia L.M.
Argitaratua izan da N Engl J Med (2018)

Recurrent mutations of chromatin remodeling genes and kinase receptors in pheochromocytomas and paragangliomas

nork Toledo, Rodrigo A., Qin, Yuejuan, Cheng, Zi-Ming, Gao, Qing, Iwata, Shintaro, Silva, Gustavo M., Prasad, Manju L., Ocal, I. Tolgay, Rao, Sarika, Aronin, Neil, Barontini, Marta, Bruder, Jan, Reddick, Robert L., Chen, Yidong, Aguiar, Ricardo C. T., Dahia, Patricia L. M.
Argitaratua izan da Clin Cancer Res (2015)

The tumor suppressor TMEM127 regulates insulin sensitivity in a tissue-specific manner

nork Srikantan, Subramanya, Deng, Yilun, Cheng, Zi-Ming, Luo, Anqi, Qin, Yuejuan, Gao, Qing, Sande-Docor, Glaiza-Mae, Tao, Sifan, Zhang, Xingyu, Harper, Nathan, Shannon, Chris E., Fourcaudot, Marcel, Li, Zhi, Kasinath, Balakuntalam S., Harrison, Stephen, Ahuja, Sunil, Reddick, Robert L., Dong, Lily Q., Abdul-Ghani, Muhammad, Norton, Luke, Aguiar, Ricardo C. T., Dahia, Patricia L. M.
Argitaratua izan da Nat Commun (2019)

Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update

nork Armaiz-Pena, Gustavo, Flores, Shahida K, Cheng, Zi-Ming, Zhang, Xhingyu, Esquivel, Emmanuel, Poullard, Natalie, Vaidyanathan, Anusha, Liu, Qianqian, Michalek, Joel, Santillan-Gomez, Alfredo A, Liss, Michael, Ahmadi, Sara, Katselnik, Daniel, Maldonado, Enrique, Salgado, Sarimar Agosto, Jimenez, Camilo, Fishbein, Lauren, Hamidi, Oksana, Else, Tobias, Lechan, Ron, Tischler, Art S, Benn, Diana E, Dwight, Trisha, Clifton-Bligh, Rory, Sanso, Gabriela, Barontini, Marta, Vincent, Deepa, Aronin, Neil, Biondi, Bernadette, Koops, Maureen, Bowhay-Carnes, Elizabeth, Gimenez-Roqueplo, Anne-Paule, Alvarez-Eslava, Andrea, Bruder, Jan M, Kitano, Mio, Burnichon, Nelly, Ding, Yanli, Dahia, Patricia L M
Argitaratua izan da J Clin Endocrinol Metab (2020)