Literature DB >> 25770152

Integrity of the pheochromocytoma susceptibility TMEM127 gene in patients with pediatric malignancies.

E E King1, Y Qin1, R A Toledo1, A Luo1, E Ball1, F R Faucz1, K A Janeway1, C A Stratakis1, G E Tomlinson2, P L M Dahia3.   

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Year:  2015        PMID： 25770152      PMCID： PMC5914492          DOI： 10.1530/ERC-15-0101

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


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  7 in total

Review 1.  Ewing sarcoma/peripheral primitive neuroectodermal tumor and related tumors.

Authors:  Maria Tsokos; Rita D Alaggio; Louis P Dehner; Paul S Dickman
Journal:  Pediatr Dev Pathol       Date:  2012

2.  Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.

Authors:  Hartmut P H Neumann; Maren Sullivan; Aurelia Winter; Angelica Malinoc; Michael M Hoffmann; Carsten C Boedeker; Hartmut Bertz; Martin K Walz; Lars C Moeller; Kurt W Schmid; Charis Eng
Journal:  J Clin Endocrinol Metab       Date:  2011-05-25       Impact factor: 5.958

3.  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

4.  Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.

Authors:  Sergio P A Toledo; Delmar M Lourenço; Tomoko Sekiya; Antonio M Lucon; Marcos E S Baena; Claudio C Castro; Luiz A Bortolotto; Maria C N Zerbini; Sheila A C Siqueira; Rodrigo A Toledo; Patricia L M Dahia
Journal:  J Clin Endocrinol Metab       Date:  2014-11-12       Impact factor: 5.958

5.  Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Authors:  Li Yao; Francesca Schiavi; Alberto Cascon; Yuejuan Qin; Lucia Inglada-Pérez; Elizabeth E King; Rodrigo A Toledo; Tonino Ercolino; Elena Rapizzi; Christopher J Ricketts; Luigi Mori; Mara Giacchè; Antonella Mendola; Elisa Taschin; Francesca Boaretto; Paola Loli; Maurizio Iacobone; Gian-Paolo Rossi; Bernadette Biondi; José Viana Lima-Junior; Claudio E Kater; Marie Bex; Miikka Vikkula; Ashley B Grossman; Stephen B Gruber; Marta Barontini; Alexandre Persu; Maurizio Castellano; Sergio P A Toledo; Eamonn R Maher; Massimo Mannelli; Giuseppe Opocher; Mercedes Robledo; Patricia L M Dahia
Journal:  JAMA       Date:  2010-12-15       Impact factor: 56.272

6.  TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

Authors:  Nassera Abermil; Marine Guillaud-Bataille; Nelly Burnichon; Annabelle Venisse; Philippe Manivet; Laurence Guignat; Delphine Drui; Maurice Chupin; Claire Josseaume; Hélène Affres; Pierre-François Plouin; Jérôme Bertherat; Xavier Jeunemaître; Anne-Paule Gimenez-Roqueplo
Journal:  J Clin Endocrinol Metab       Date:  2012-03-14       Impact factor: 5.958

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
  7 in total
  3 in total

1.  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

2.  Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma.

Authors:  Kohei Saitoh; Takako Yonemoto; Takeshi Usui; Kazuhiro Takekoshi; Makoto Suzuki; Yoshiharu Nakashima; Koji Yoshimura; Rieko Kosugi; Tatsuo Ogawa; Tatsuhide Inoue
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2017-04-06

Review 3.  A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Authors:  Bernardo Dias Pereira; Tiago Nunes da Silva; Ana Teresa Bernardo; Rui César; Henrique Vara Luiz; Karel Pacak; Luísa Mota-Vieira
Journal:  Int J Endocrinol       Date:  2018-03-20       Impact factor: 3.257
  3 in total

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