| TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation. | TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation.
Guo Q, Cheng ZM, Gonzalez-Cantú H, Rotondi M, Huelgas-Morales G, Ethiraj P, Qiu Z, Lefkowitz J, Song W, Landry BN, Lopez H, Estrada-Zuniga CM, Goyal S, Khan MA, Walker TJ, Wang E, Li F, Ding Y, Mulligan LM, Aguiar RCT, Dahia PLM., Free PMC Article | 10/10/2023 |
| Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. | Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Salgado SA, Jimenez C, Fishbein L, Hamidi O, Else T, Lechan R, Tischler AS, Benn DE, Dwight T, Clifton-Bligh R, Sanso G, Barontini M, Vincent D, Aronin N, Biondi B, Koops M, Bowhay-Carnes E, Gimenez-Roqueplo AP, Alvarez-Eslava A, Bruder JM, Kitano M, Burnichon N, Ding Y, Dahia PLM., Free PMC Article | 09/4/2021 |
| The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class II Molecules. | The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class II Molecules.
Alix E, Godlee C, Cerny O, Blundell S, Tocci R, Matthews S, Liu M, Pruneda JN, Swatek KN, Komander D, Sleap T, Holden DW., Free PMC Article | 03/27/2021 |
| Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking. | Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.
Flores SK, Deng Y, Cheng Z, Zhang X, Tao S, Saliba A, Chu I, Burnichon N, Gimenez-Roqueplo AP, Wang E, Aguiar RCT, Dahia PLM., Free PMC Article | 02/27/2021 |
| n the present cases, the clinical picture does not seem to be very different from heterozygous TMEM127 mutation carriers, except for a relatively large tumor size and more pronounced plasma metanephrine concentration. It is unclear whether the mental retardation is causally related to homozygosity of the TMEM127 mutations. | Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Eijkelenkamp K, Olderode-Berends MJW, van der Luijt RB, Robledo M, van Dooren M, Feelders RA, de Vries J, Kerstens MN, Links TP, van der Horst-Schrivers ANA. | 09/28/2019 |
| We found that under nutrient-rich conditions TMEM127 expression reduces mTORC1 recruitment to Rags. In addition, TMEM127 interacts with LAMTOR in an amino acid-dependent manner and decreases the LAMTOR1-vATPase association, while TMEM127-vATPase binding requires intact lysosomal acidification but is amino acid independent | The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.
Deng Y, Qin Y, Srikantan S, Luo A, Cheng ZM, Flores SK, Vogel KS, Wang E, Dahia PLM., Free PMC Article | 02/16/2019 |
| The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma. | Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH, European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group., Free PMC Article | 09/30/2017 |
| Of which 4 SDHB and 2 TMEM127 mutations were novel. | Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.
Patócs A, Lendvai NK, Butz H, Liko I, Sapi Z, Szucs N, Toth G, Grolmusz VK, Igaz P, Toth M, Rácz K. | 03/11/2017 |
| Hereditary pheochromocytoma / paraganglioma associated with TMEM127 gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations. | [Hereditary pheochromocytoma-associated syndromes. Part 1].
Yukina MY, Troshina EA, Beltsevich DG. | 02/13/2016 |
| We report the first case of an individual with both a pheochromocytoma and a multilocular clear cell renal cell carcinoma driven by a novel germline mutation in the TMEM127 gene, with a sibling and 2 sons with the same mutation. | Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.
Hernandez KG, Ezzat S, Morel CF, Swallow C, Otremba M, Dickson BC, Asa SL, Mete O. | 08/29/2015 |
| Tumor multicentricity, nodular adrenomedullary hyperplasia, and the occurrence of symptoms more than a decade earlier than the age at diagnosis are novel findings in TMEM127-related pheochromocytoma. | Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.
Toledo SP, Lourenço DM Jr, Sekiya T, Lucon AM, Baena ME, Castro CC, Bortolotto LA, Zerbini MC, Siqueira SA, Toledo RA, Dahia PL. | 04/18/2015 |
| A male patient with sporadic adrenal pheochromocytoma presents with a novel TMEM127 germline mutation, p. Gln139X. | Novel mutation in the TMEM127 gene associated with phaeochromocytoma.
Elston MS, Meyer-Rochow GY, Prosser D, Love DR, Conaglen JV. | 01/18/2014 |
| TMEM127 protein localizes in lysosomes in HeLa cells | Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A. | 12/13/2013 |
| report shows that TMEM127 mutation plays a pathological role in pheochromocytoma in an Asian population. | Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.
Takeichi N, Midorikawa S, Watanabe A, Naing BT, Tamura H, Wakakuri-Kano T, Ishizaki A, Sugihara H, Nissato S, Saito Y, Aita Y, Ishii KA, Igarashi T, Kawakami Y, Hara H, Ikeda T, Shimizu K, Suzuki S, Shimano H, Kawamoto M, Shimada T, Watanabe T, Oikawa S, Takekoshi K. | 03/16/2013 |
| TMEM127 is a novel pheochromocytoma susceptibility gene.[review] | Minireview: the busy road to pheochromocytomas and paragangliomas has a new member, TMEM127.
Jiang S, Dahia PL. | 11/26/2011 |
| TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma. | Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.
Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C. | 10/15/2011 |
| Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma. | A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.
Burnichon N, Lepoutre-Lussey C, Laffaire J, Gadessaud N, Molinié V, Hernigou A, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP. | 01/15/2011 |
| Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms; mutations disrupt intracellular distribution of the FP/TMEM127 protein. | Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL. | 01/1/2011 |
| Germline mutations in TMEM127 confer susceptibility to pheochromocytoma and identify TMEM127 as a tumor suppressor gene. | Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL, Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL., Free PMC Articles: PMC2998199, PMC2998199 | 04/19/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL, Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL., Free PMC Articles: PMC2998199, PMC2998199 | 04/7/2010 |