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TMEM127 gene
Known as:
TRANSMEMBRANE PROTEIN 127
, Transmembrane Protein 127 Gene
, TMEM127
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This gene may play a role in signaling and protein trafficking.
National Institutes of Health
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Related topics
Related topics
3 relations
Inhibition of Cell Proliferation
Signal Transduction
Signal 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
A. Fernández-Pombo
,
J. Cameselle-Teijeiro
,
+7 authors
D. Araújo-Vilar
Case Reports in Endocrinology
2019
Corpus ID: 207978713
Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic…
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2019
2019
A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation.
C. Cardot-Bauters
,
B. Carnaille
,
+4 authors
P. Pigny
Journal of Clinical Endocrinology and Metabolism
2019
Corpus ID: 143422654
CONTEXT Heterozygous germline pathogenic variants found in succinate dehydrogenase (SDH) complex genes predispose to hereditary…
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2018
2018
Phéochromocytomes et paragangliomes génétiquement déterminés: quelle conduite à tenir chez les apparentés ?
M. Vermalle
,
A. Tabarin
,
F. Castinetti
Annales d'Endocrinologie
2018
Corpus ID: 196506203
Review
2018
Review
2018
[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].
M. Vermalle
,
A. Tabarin
,
F. Castinetti
Annales d'Endocrinologie
2018
Corpus ID: 52269704
2018
2018
New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation
S. Laboureau
,
A. Guichet
,
+4 authors
D. Mirebeau-Prunier
Clinical Genetics
2018
Corpus ID: 13710010
Our patient represents the third case of pheochromocytoma and mental retardation involving a homozygous region in 2p11.2 with a…
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2017
2017
Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma
K. Saitoh
,
T. Yonemoto
,
+7 authors
Tatsuhide Inoue
Endocrinology, Diabetes & Metabolism Case Reports
2017
Corpus ID: 4472536
Summary Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of…
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2014
2014
Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.
R. Casey
,
A. Garrahy
,
+5 authors
M. Bell
Journal of Clinical Endocrinology and Metabolism
2014
Corpus ID: 26206855
CONTEXT Hereditary pheochromocytoma/paraganglioma (PC/PGL) accounts for up to 60% of previously considered sporadic tumors…
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2013
2013
Novel mutation in the TMEM127 gene associated with phaeochromocytoma
M. Elston
,
M. Elston
,
+6 authors
J. Conaglen
Internal medicine journal (Print)
2013
Corpus ID: 33801881
Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal glands or paraganglia…
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2013
2013
The VHL gene is epigenetically inactivated in pheochromocytomas and abdominal paragangliomas
Adam Andreasson
,
Nimrod B. Kiss
,
+6 authors
C. Larsson
Epigenetics
2013
Corpus ID: 16485590
Pheochromocytoma (PCC) and abdominal paraganglioma (PGL) are neuroendocrine tumors that present with clinical symptoms related to…
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Review
2012
Review
2012
Genetik der Phäochromozytome
B. Bausch
,
A. Malinoc
,
+6 authors
H. Neumann
Der Chirurg
2012
Corpus ID: 35589122
ZusammenfassungEtwa ein Drittel aller Patienten mit Phäochromozytomen sind einem hereditären Tumorsyndrom zuzuordnen. Hierzu geh…
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