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

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

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

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

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

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

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

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

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease

द्वारा 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.
में प्रकाशित N Engl J Med (2018)

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

द्वारा 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.
में प्रकाशित Clin Cancer Res (2015)

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

द्वारा 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.
में प्रकाशित Nat Commun (2019)

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

द्वारा 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
में प्रकाशित J Clin Endocrinol Metab (2020)