Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of clinical endocrinology and metabolism - 1 Sept 2020

Flores Shahida K, Deng Yilun, Cheng Ziming, Zhang Xingyu, Tao Sifan, Saliba Afaf, Chu Irene, Burnichon Nelly, Gimenez-Roqueplo Anne-Paule, Wang Exing, Aguiar Ricardo C T, Dahia Patricia L M

Abstract excerpt

CONTEXT: TMEM127 is a poorly known tumor suppressor gene associated with pheochromocytomas, paragangliomas, and renal carcinomas. Our incomplete understanding of TMEM127 function has limited our ability to predict variant pathogenicity. PURPOSE: To better understand the function of the transmembrane protein TMEM127 we undertook cellular and molecular evaluation of patient-derived germline variants. DESIGN:...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Gland Neoplasms
Share to Gene Knockdown Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to HEK293 Cells

Share to Paraganglioma

Share to Pheochromocytoma

Share to Protein Transport

Share to Tissue Distribution

Source

Open in PubMed Open full text

Identifiers

PMID: 32575117
DOI: 10.1210/clinem/dgaa396
PMCID: PMC7414969

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.PMID 32575117Read ↗

Functional characterization of germline variants in the <i>TMEM127</i> tumor suppressor reveals novel insights into its membrane topology and traffickingSemantic proximity Read ↗

Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.Semantic proximity Read ↗

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.Semantic proximity Read ↗

Spectrum and Prevalence of <i>FP/TMEM127</i> Gene Mutations in Pheochromocytomas and ParagangliomasSemantic proximity Read ↗

Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistrySemantic proximity Read ↗

Minireview: The Busy Road to Pheochromocytomas and Paragangliomas Has a New Member, TMEM127Semantic proximity Read ↗

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

Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistrySemantic proximity Read ↗

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.Semantic proximity Read ↗

The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal functionSemantic proximity Read ↗

Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.Semantic proximity Read ↗

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.