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

av Armaiz-Pena, Gustavo, Flores, Shahida, Cheng, Zi-Ming, Deng, Yilun, Koops, Maureen, Bruder, Jan, Dahia, Patricia
I publikationen J Endocr Soc (2019)

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

av Deng, Yilun, Flores, Shahida K., Cheng, ZiMing, Qin, Yuejuan, Schwartz, Robin C., Malchoff, Carl, Dahia, Patricia L. M.
I publikationen Endocr Relat Cancer (2017)

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

av Deng, Yilun, Flores, Shahida K, Cheng, ZiMing, Qin, Yuejuan, Schwartz, Robin C, Malchoff, Carl, Dahia, Patricia L M
I publikationen Endocr Relat Cancer (2018)

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

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

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease

av 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.
I publikationen N Engl J Med (2018)

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

av 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.
I publikationen Clin Cancer Res (2015)

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

av 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.
I publikationen Nat Commun (2019)

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

av 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
I publikationen J Clin Endocrinol Metab (2020)