PMID- 21447639
OWN - NLM
STAT- MEDLINE
DCOM- 20111122
LR  - 20110523
IS  - 1945-7170 (Electronic)
IS  - 0013-7227 (Linking)
VI  - 152
IP  - 6
DP  - 2011 Jun
TI  - Minireview: the busy road to pheochromocytomas and paragangliomas has a new 
      member, TMEM127.
PG  - 2133-40
LID - 10.1210/en.2011-0052 [doi]
AB  - Characterization of the entire spectrum of cancer-associated genetic disruptions 
      is an overarching goal of contemporary and future oncology and can inform on 
      patient diagnosis, treatment, and surveillance. Hereditary endocrine tumors, by 
      having the potential to reveal the cancer's primary molecular defect, have been 
      especially informative in this realm. Within this group, pheochromocytomas and 
      paragangliomas, neural crest-derived, catecholamine-secreting tumors have come to 
      represent true conduits for gene discovery. About one-third of pheochromocytomas 
      and paragangliomas are now known to result from germline mutations in one of at 
      least eight genes that belong to a variety of functional classes. Greater 
      understanding of the molecular signals transduced by these genes and their 
      respective mutants has advanced our understanding of kinase signaling pathways, 
      hypoxia regulation, and the link between metabolic disruptions and cell growth. A 
      new susceptibility gene without homology to other functional classes has been 
      recently identified and encodes for a three-spanner transmembrane protein, 
      transmembrane protein 127 (TMEM127). Initial insights from in vitro and patient 
      data suggest that this candidate tumor suppressor is linked to the endosomal 
      system and the mechanistic target of rapamycin [formerly mammalian target of 
      rapamycin (mTOR)] pathway, and that mutation carriers often have clinical 
      features that are typically associated with sporadic forms of pheochromocytoma. 
      Functional characterization of transmembrane protein 127 (TMEM127) and discovery 
      of additional pheochromocytoma/paraganglioma susceptibility genes is likely to 
      shed light on our understanding of these tumors and extend these insights to 
      other cancers.
FAU - Jiang, Shoulei
AU  - Jiang S
AD  - Department of Medicine, University of Texas Health Science Center at San Antonio, 
      San Antonio, Texas 78229-3900, USA.
FAU - Dahia, Patricia L M
AU  - Dahia PL
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20110329
PL  - United States
TA  - Endocrinology
JT  - Endocrinology
JID - 0375040
RN  - 0 (Membrane Proteins)
RN  - 0 (TMEM127 protein, human)
SB  - IM
MH  - Humans
MH  - Membrane Proteins/*genetics/metabolism
MH  - Neuroendocrine Tumors/*genetics/metabolism
MH  - Paraganglioma/*genetics/metabolism
MH  - Pheochromocytoma/*genetics/metabolism
EDAT- 2011/03/31 06:00
MHDA- 2011/12/13 00:00
CRDT- 2011/03/31 06:00
PHST- 2011/03/31 06:00 [entrez]
PHST- 2011/03/31 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
AID - en.2011-0052 [pii]
AID - 10.1210/en.2011-0052 [doi]
PST - ppublish
SO  - Endocrinology. 2011 Jun;152(6):2133-40. doi: 10.1210/en.2011-0052. Epub 2011 Mar 
      29.