Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10209747" target="_blank" >RIV/00216208:11110/13:10209747 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/13:10209747 RIV/00064203:_____/13:10209747 RIV/00064165:_____/13:10209747
Result on the web
<a href="http://dx.doi.org/10.1097/MED.0b013e32835fcc45" target="_blank" >http://dx.doi.org/10.1097/MED.0b013e32835fcc45</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/MED.0b013e32835fcc45" target="_blank" >10.1097/MED.0b013e32835fcc45</a>
Alternative languages
Result language
angličtina
Original language name
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options
Original language description
Purpose of review To summarize the recent advances in the genetics of pheochromocytoma and paraganglioma (PHEO/PGL), focusing on the new susceptibility genes and dividing PHEOs/PGLs into two groups based on their transcription profile. Recent findings Recently, TMEM127, MYC-associated factor X, and hypoxia-inducible factor (HIF) 2 alpha have been described in the pathogenesis of PHEOs/PGLs. Thus, now about 30-40% of these tumors are linked to the germline mutations, which also include mutations in the VHL, RET, NF1, SDHx, and SDHAF2 genes. Furthermore, PHEOs/PGLs have been divided into two groups, cluster 1 (SDHx/VHL) and cluster 2 (RET/NF1), based on the transcription profile revealed by genome-wide expression microarray analysis. Summary PHEOs/PGLs are the most inherited tumors among (neuro) endocrine tumors. Future approaches in genetics, including whole-genome sequencing, will allow the discovery of additional PHEO/PGL susceptibility genes. The current division of PHEOs/PGLs into c
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Current Opinion in Endocrinology, Diabetes and Obesity
ISSN
1752-296X
e-ISSN
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Volume of the periodical
20
Issue of the periodical within the volume
3
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
186-191
UT code for WoS article
000318024200005
EID of the result in the Scopus database
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