Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation.
Guo Q et al.
Cell Reports, 2023
37659079 (PubMed )
Supplement: NIHMS1940248-supplement-SupplementaryData_Guo_et_al.pdf
[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].
Delgado JF et al.
Revista Medica De Chile, 2022
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
Armaiz-Pena G et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Pheochromocytoma Due to TMEM127 Mutation - The Importance of Genetic Testing for Clinical Decision.
Paredes SCS et al.
European Endocrinology, 2020
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Eijkelenkamp K et al.
Clinical Genetics, 2018
Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.
Cardaci S et al.
Nature Cell Biology, 2015
26302408 (PubMed )
Supplement: NIHMS64521-supplement-SuppTable2.xlsx › Sheet1
Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.
Toledo SP et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L et al.
Jama, 2010
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Qin Y et al.
Nature Genetics, 2010
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