Literature DB >> 28855235

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

Yilun Deng1, Shahida K Flores1, ZiMing Cheng1, Yuejuan Qin1, Robin C Schwartz2,3, Carl Malchoff3, Patricia L M Dahia4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28855235      PMCID： PMC5741081          DOI： 10.1530/ERC-17-0359

Source DB:  PubMed          Journal:  Endocr Relat Cancer        ISSN： 1351-0088            Impact factor:   5.678


× No keyword cloud information.
  10 in total

Review 1.  Genetics of familial renal cancers.

Authors:  Eamonn R Maher
Journal:  Nephron Exp Nephrol       Date:  2010-11-11

2.  Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids.

Authors:  Yasemin Sancak; Liron Bar-Peled; Roberto Zoncu; Andrew L Markhard; Shigeyuki Nada; David M Sabatini
Journal:  Cell       Date:  2010-04-08       Impact factor: 41.582

Review 3.  Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity.

Authors:  Patricia L M Dahia
Journal:  Nat Rev Cancer       Date:  2014-01-20       Impact factor: 60.716

4.  The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.

Authors:  Y Qin; Y Deng; C J Ricketts; S Srikantan; E Wang; E R Maher; P L M Dahia
Journal:  Hum Mol Genet       Date:  2013-12-13       Impact factor: 6.150

5.  Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.

Authors:  Karen Gomez Hernandez; Shereen Ezzat; Chantal F Morel; Carol Swallow; Mirek Otremba; Brendan C Dickson; Sylvia L Asa; Ozgur Mete
Journal:  Virchows Arch       Date:  2015-03-24       Impact factor: 4.064

6.  Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127).

Authors:  Sounak Gupta; Jun Zhang; Dragana Milosevic; John R Mills; Stefan K Grebe; Steven C Smith; Lori A Erickson
Journal:  Endocr Pathol       Date:  2017-09       Impact factor: 3.943

7.  Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

Authors:  Yuejuan Qin; Li Yao; Elizabeth E King; Kalyan Buddavarapu; Romina E Lenci; E Sandra Chocron; James D Lechleiter; Meghan Sass; Neil Aronin; Francesca Schiavi; Francesca Boaretto; Giuseppe Opocher; Rodrigo A Toledo; Sergio P A Toledo; Charles Stiles; Ricardo C T Aguiar; Patricia L M Dahia
Journal:  Nat Genet       Date:  2010-02-14       Impact factor: 38.330

8.  Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas.

Authors:  Rodrigo A Toledo; Yuejuan Qin; Zi-Ming Cheng; Qing Gao; Shintaro Iwata; Gustavo M Silva; Manju L Prasad; I Tolgay Ocal; Sarika Rao; Neil Aronin; Marta Barontini; Jan Bruder; Robert L Reddick; Yidong Chen; Ricardo C T Aguiar; Patricia L M Dahia
Journal:  Clin Cancer Res       Date:  2015-12-23       Impact factor: 12.531

9.  Improved vectors and genome-wide libraries for CRISPR screening.

Authors:  Neville E Sanjana; Ophir Shalem; Feng Zhang
Journal:  Nat Methods       Date:  2014-08       Impact factor: 28.547

10.  Comprehensive molecular characterization of clear cell renal cell carcinoma.

Authors: 
Journal:  Nature       Date:  2013-06-23       Impact factor: 49.962
  10 in total
  5 in total

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

Authors:  Yilun Deng; Yuejuan Qin; Subramanya Srikantan; Anqi Luo; Zi-Ming Cheng; Shahida K Flores; Kris S Vogel; Exing Wang; Patricia L M Dahia
Journal:  Hum Mol Genet       Date:  2018-05-15       Impact factor: 6.150

2.  Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.

Authors:  Shahida K Flores; Yilun Deng; Ziming Cheng; Xingyu Zhang; Sifan Tao; Afaf Saliba; Irene Chu; Nelly Burnichon; Anne-Paule Gimenez-Roqueplo; Exing Wang; Ricardo C T Aguiar; Patricia L M Dahia
Journal:  J Clin Endocrinol Metab       Date:  2020-09-01       Impact factor: 5.958

3.  A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.

Authors:  Raquel Kristin S Ong; Shahida K Flores; Robert L Reddick; Patricia L M Dahia; Hassan Shawa
Journal:  J Clin Endocrinol Metab       Date:  2018-08-01       Impact factor: 5.958

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

Authors:  Gustavo Armaiz-Pena; Shahida K Flores; Zi-Ming Cheng; Xhingyu Zhang; Emmanuel Esquivel; Natalie Poullard; Anusha Vaidyanathan; Qianqian Liu; Joel Michalek; Alfredo A Santillan-Gomez; Michael Liss; Sara Ahmadi; Daniel Katselnik; Enrique Maldonado; Sarimar Agosto Salgado; Camilo Jimenez; Lauren Fishbein; Oksana Hamidi; Tobias Else; Ron Lechan; Art S Tischler; Diana E Benn; Trisha Dwight; Rory Clifton-Bligh; Gabriela Sanso; Marta Barontini; Deepa Vincent; Neil Aronin; Bernadette Biondi; Maureen Koops; Elizabeth Bowhay-Carnes; Anne-Paule Gimenez-Roqueplo; Andrea Alvarez-Eslava; Jan M Bruder; Mio Kitano; Nelly Burnichon; Yanli Ding; Patricia L M Dahia
Journal:  J Clin Endocrinol Metab       Date:  2021-01-01       Impact factor: 5.958

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

Authors:  Subramanya Srikantan; Yilun Deng; Zi-Ming Cheng; Anqi Luo; Yuejuan Qin; Qing Gao; Glaiza-Mae Sande-Docor; Sifan Tao; Xingyu Zhang; Nathan Harper; Chris E Shannon; Marcel Fourcaudot; Zhi Li; Balakuntalam S Kasinath; Stephen Harrison; Sunil Ahuja; Robert L Reddick; Lily Q Dong; Muhammad Abdul-Ghani; Luke Norton; Ricardo C T Aguiar; Patricia L M Dahia
Journal:  Nat Commun       Date:  2019-10-17       Impact factor: 14.919
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.