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TMEM127 gene

Known as: TRANSMEMBRANE PROTEIN 127, Transmembrane Protein 127 Gene, TMEM127 
This gene may play a role in signaling and protein trafficking.
National Institutes of Health

Related topics

Related topics

3 relations
Inhibition of Cell ProliferationSignal TransductionSignal Transduction Inhibition

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic… 
2019
2019
A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation.
CONTEXT Heterozygous germline pathogenic variants found in succinate dehydrogenase (SDH) complex genes predispose to hereditary… 
2018
2018
Phéochromocytomes et paragangliomes génétiquement déterminés: quelle conduite à tenir chez les apparentés ?
Review
2018
Review
2018
[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].
2018
2018
New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation
Our patient represents the third case of pheochromocytoma and mental retardation involving a homozygous region in 2p11.2 with a… 
2017
2017
Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma
Summary Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of… 
2014
2014
Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.
CONTEXT Hereditary pheochromocytoma/paraganglioma (PC/PGL) accounts for up to 60% of previously considered sporadic tumors… 
2013
2013
Novel mutation in the TMEM127 gene associated with phaeochromocytoma
Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal glands or paraganglia… 
2013
2013
The VHL gene is epigenetically inactivated in pheochromocytomas and abdominal paragangliomas
Pheochromocytoma (PCC) and abdominal paraganglioma (PGL) are neuroendocrine tumors that present with clinical symptoms related to… 
Review
2012
Review
2012
Genetik der Phäochromozytome
ZusammenfassungEtwa ein Drittel aller Patienten mit Phäochromozytomen sind einem hereditären Tumorsyndrom zuzuordnen. Hierzu geh… 
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