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

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

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

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

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

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

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

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

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease

ανά 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.
Τόπος έκδοσης N Engl J Med (2018)

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

ανά 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.
Τόπος έκδοσης Clin Cancer Res (2015)

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

ανά 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.
Τόπος έκδοσης Nat Commun (2019)

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

ανά 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
Τόπος έκδοσης J Clin Endocrinol Metab (2020)