FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2021858988> ?p ?o ?g. }

• W2021858988 endingPage "36" @default.
• W2021858988 startingPage "33" @default.
• W2021858988 abstract "Medullary thyroid carcinoma currently accounts for 5-8% of all thyroid cancers. The clinical course of this disease varies from extremely indolent tumors that can go unchanged for years to an extremely aggressive variant that is associated with a high mortality rate. As many as 75% of all medullary thyroid carcinomas are sporadic, with an average age at presentation reported as 60 years, and the remaining 25% are hereditary with an earlier age of presentation, ranging from 20 to 40 years. Germline RET proto-oncogene mutations are the genetic causes of multiple endocrine neoplasia type 2 and a strong genotype-phenotype correlation exists, particularly between a specific RET codon mutation and the (a) age-related onset and (b) thyroid tumor progression, from C-cell hyperplasia to medullary thyroid carcinoma and, ultimately, to nodal metastases. RET mutations predispose an individual to the development of medullary thyroid carcinomas and can also influence the individual response to RET protein receptor-targeted therapies. RET codon 609 point mutations are rare genetic events belonging to the intermediate risk category for the onset of medullary thyroid carcinoma. A large genealogy resulting in a less aggressive form of medullary thyroid carcinoma is associated with the high penetrance of pheochromocytoma and has been reported in the literature. In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism." @default.
• W2021858988 created "2016-06-24" @default.
• W2021858988 creator A5026090512 @default.
• W2021858988 creator A5033884890 @default.
• W2021858988 creator A5043356864 @default.
• W2021858988 creator A5049058248 @default.
• W2021858988 creator A5086852413 @default.
• W2021858988 date "2012-04-01" @default.
• W2021858988 modified "2023-09-26" @default.
• W2021858988 title "RET codon 609 mutations: a contribution for better clinical managing" @default.
• W2021858988 cites W2006088200 @default.
• W2021858988 cites W2007535456 @default.
• W2021858988 cites W2013350693 @default.
• W2021858988 cites W2020488515 @default.
• W2021858988 cites W2062448520 @default.
• W2021858988 cites W2064498815 @default.
• W2021858988 cites W2080846710 @default.
• W2021858988 cites W2085051463 @default.
• W2021858988 cites W2146718153 @default.
• W2021858988 cites W2151298142 @default.
• W2021858988 cites W2154459385 @default.
• W2021858988 cites W2155826483 @default.
• W2021858988 cites W2155900824 @default.
• W2021858988 cites W2329619823 @default.
• W2021858988 doi "https://doi.org/10.6061/clinics/2012(sup01)07" @default.
• W2021858988 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3328822" @default.
• W2021858988 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22584703" @default.
• W2021858988 hasPublicationYear "2012" @default.
• W2021858988 type Work @default.
• W2021858988 sameAs 2021858988 @default.
• W2021858988 citedByCount "8" @default.
• W2021858988 countsByYear W20218589882013 @default.
• W2021858988 countsByYear W20218589882014 @default.
• W2021858988 countsByYear W20218589882016 @default.
• W2021858988 countsByYear W20218589882019 @default.
• W2021858988 countsByYear W20218589882020 @default.
• W2021858988 countsByYear W20218589882023 @default.
• W2021858988 crossrefType "journal-article" @default.
• W2021858988 hasAuthorship W2021858988A5026090512 @default.
• W2021858988 hasAuthorship W2021858988A5033884890 @default.
• W2021858988 hasAuthorship W2021858988A5043356864 @default.
• W2021858988 hasAuthorship W2021858988A5049058248 @default.
• W2021858988 hasAuthorship W2021858988A5086852413 @default.
• W2021858988 hasBestOaLocation W20218589881 @default.
• W2021858988 hasConcept C104317684 @default.
• W2021858988 hasConcept C126322002 @default.
• W2021858988 hasConcept C127716648 @default.
• W2021858988 hasConcept C13514818 @default.
• W2021858988 hasConcept C142724271 @default.
• W2021858988 hasConcept C160539049 @default.
• W2021858988 hasConcept C170493617 @default.
• W2021858988 hasConcept C185856081 @default.
• W2021858988 hasConcept C195121873 @default.
• W2021858988 hasConcept C200544954 @default.
• W2021858988 hasConcept C2776512331 @default.
• W2021858988 hasConcept C2776667971 @default.
• W2021858988 hasConcept C2779512018 @default.
• W2021858988 hasConcept C2779644188 @default.
• W2021858988 hasConcept C2780103800 @default.
• W2021858988 hasConcept C2780120053 @default.
• W2021858988 hasConcept C2908751931 @default.
• W2021858988 hasConcept C2993294228 @default.
• W2021858988 hasConcept C501734568 @default.
• W2021858988 hasConcept C502942594 @default.
• W2021858988 hasConcept C526584372 @default.
• W2021858988 hasConcept C54355233 @default.
• W2021858988 hasConcept C71924100 @default.
• W2021858988 hasConcept C86803240 @default.
• W2021858988 hasConceptScore W2021858988C104317684 @default.
• W2021858988 hasConceptScore W2021858988C126322002 @default.
• W2021858988 hasConceptScore W2021858988C127716648 @default.
• W2021858988 hasConceptScore W2021858988C13514818 @default.
• W2021858988 hasConceptScore W2021858988C142724271 @default.
• W2021858988 hasConceptScore W2021858988C160539049 @default.
• W2021858988 hasConceptScore W2021858988C170493617 @default.
• W2021858988 hasConceptScore W2021858988C185856081 @default.
• W2021858988 hasConceptScore W2021858988C195121873 @default.
• W2021858988 hasConceptScore W2021858988C200544954 @default.
• W2021858988 hasConceptScore W2021858988C2776512331 @default.
• W2021858988 hasConceptScore W2021858988C2776667971 @default.
• W2021858988 hasConceptScore W2021858988C2779512018 @default.
• W2021858988 hasConceptScore W2021858988C2779644188 @default.
• W2021858988 hasConceptScore W2021858988C2780103800 @default.
• W2021858988 hasConceptScore W2021858988C2780120053 @default.
• W2021858988 hasConceptScore W2021858988C2908751931 @default.
• W2021858988 hasConceptScore W2021858988C2993294228 @default.
• W2021858988 hasConceptScore W2021858988C501734568 @default.
• W2021858988 hasConceptScore W2021858988C502942594 @default.
• W2021858988 hasConceptScore W2021858988C526584372 @default.
• W2021858988 hasConceptScore W2021858988C54355233 @default.
• W2021858988 hasConceptScore W2021858988C71924100 @default.
• W2021858988 hasConceptScore W2021858988C86803240 @default.
• W2021858988 hasLocation W20218589881 @default.
• W2021858988 hasLocation W20218589882 @default.
• W2021858988 hasLocation W20218589883 @default.
• W2021858988 hasLocation W20218589884 @default.
• W2021858988 hasLocation W20218589885 @default.
• W2021858988 hasLocation W20218589886 @default.

• next