FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2030756472> ?p ?o ?g. }

• W2030756472 endingPage "652" @default.
• W2030756472 startingPage "646" @default.
• W2030756472 abstract "OBJECTIVE: To investigate the presence of variants in the TAC3 and TACR3 genes, which encode NKB and its receptor (NK3R), respectively, in a large cohort of patients with idiopathic central pubertal disorders. SUBJECTS AND METHODS: Two hundred and thirty seven patients were studied: 114 with central precocious puberty (CPP), 73 with normosmic isolated hypogonadotropic hypogonadism (IHH), and 50 with constitutional delay of growth and puberty (CDGP). The control group consisted of 150 Brazilian individuals with normal pubertal development. Genomic DNA was extracted from peripheral blood and the entire coding region of both TAC3 and TACR3 genes were amplified and automatically sequenced. RESULTS: We identified one variant (p.A63P) in NKB and four variants, p.G18D, p.L58L (c.172C>T), p.W275* and p.A449S in NK3R, which were absent in the control group. The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP. The known p.G18D, p.L58L, and p.W275* variants were identified in three unrelated males with normosmic IHH. CONCLUSION: Rare variants in the TAC3 and TACR3 genes were identified in patients with central pubertal disorders. Loss-of-function variants of TACR3 were associated with the normosmic IHH phenotype. Arq Bras Endocrinol Metab. 2012;56(9):646-52" @default.
• W2030756472 created "2016-06-24" @default.
• W2030756472 creator A5004035589 @default.
• W2030756472 creator A5008550885 @default.
• W2030756472 creator A5011713682 @default.
• W2030756472 creator A5042122104 @default.
• W2030756472 creator A5045503032 @default.
• W2030756472 creator A5047050294 @default.
• W2030756472 creator A5056408960 @default.
• W2030756472 creator A5071901996 @default.
• W2030756472 creator A5075930640 @default.
• W2030756472 creator A5079205681 @default.
• W2030756472 creator A5084067564 @default.
• W2030756472 date "2012-12-01" @default.
• W2030756472 modified "2023-10-18" @default.
• W2030756472 title "Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders" @default.
• W2030756472 cites W1970361523 @default.
• W2030756472 cites W1981991387 @default.
• W2030756472 cites W2003282533 @default.
• W2030756472 cites W2010920434 @default.
• W2030756472 cites W2013104189 @default.
• W2030756472 cites W2022586856 @default.
• W2030756472 cites W2025015073 @default.
• W2030756472 cites W2025275313 @default.
• W2030756472 cites W2026732159 @default.
• W2030756472 cites W2030585597 @default.
• W2030756472 cites W2033391564 @default.
• W2030756472 cites W2036316932 @default.
• W2030756472 cites W2041506924 @default.
• W2030756472 cites W2041952354 @default.
• W2030756472 cites W2043153437 @default.
• W2030756472 cites W2050874028 @default.
• W2030756472 cites W2051177586 @default.
• W2030756472 cites W2053608443 @default.
• W2030756472 cites W2055965157 @default.
• W2030756472 cites W2058088993 @default.
• W2030756472 cites W2066524898 @default.
• W2030756472 cites W2068053473 @default.
• W2030756472 cites W2078473800 @default.
• W2030756472 cites W2090831400 @default.
• W2030756472 cites W2092580777 @default.
• W2030756472 cites W2101121629 @default.
• W2030756472 cites W2105604596 @default.
• W2030756472 cites W2130831747 @default.
• W2030756472 cites W2132922056 @default.
• W2030756472 cites W2143022312 @default.
• W2030756472 cites W2144716768 @default.
• W2030756472 cites W2167619569 @default.
• W2030756472 cites W2343831581 @default.
• W2030756472 doi "https://doi.org/10.1590/s0004-27302012000900008" @default.
• W2030756472 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3712828" @default.
• W2030756472 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23329188" @default.
• W2030756472 hasPublicationYear "2012" @default.
• W2030756472 type Work @default.
• W2030756472 sameAs 2030756472 @default.
• W2030756472 citedByCount "49" @default.
• W2030756472 countsByYear W20307564722014 @default.
• W2030756472 countsByYear W20307564722015 @default.
• W2030756472 countsByYear W20307564722016 @default.
• W2030756472 countsByYear W20307564722017 @default.
• W2030756472 countsByYear W20307564722018 @default.
• W2030756472 countsByYear W20307564722019 @default.
• W2030756472 countsByYear W20307564722020 @default.
• W2030756472 countsByYear W20307564722021 @default.
• W2030756472 countsByYear W20307564722022 @default.
• W2030756472 countsByYear W20307564722023 @default.
• W2030756472 crossrefType "journal-article" @default.
• W2030756472 hasAuthorship W2030756472A5004035589 @default.
• W2030756472 hasAuthorship W2030756472A5008550885 @default.
• W2030756472 hasAuthorship W2030756472A5011713682 @default.
• W2030756472 hasAuthorship W2030756472A5042122104 @default.
• W2030756472 hasAuthorship W2030756472A5045503032 @default.
• W2030756472 hasAuthorship W2030756472A5047050294 @default.
• W2030756472 hasAuthorship W2030756472A5056408960 @default.
• W2030756472 hasAuthorship W2030756472A5071901996 @default.
• W2030756472 hasAuthorship W2030756472A5075930640 @default.
• W2030756472 hasAuthorship W2030756472A5079205681 @default.
• W2030756472 hasAuthorship W2030756472A5084067564 @default.
• W2030756472 hasBestOaLocation W20307564721 @default.
• W2030756472 hasConcept C104317684 @default.
• W2030756472 hasConcept C126322002 @default.
• W2030756472 hasConcept C127716648 @default.
• W2030756472 hasConcept C134018914 @default.
• W2030756472 hasConcept C54355233 @default.
• W2030756472 hasConcept C71924100 @default.
• W2030756472 hasConcept C72563966 @default.
• W2030756472 hasConcept C86803240 @default.
• W2030756472 hasConceptScore W2030756472C104317684 @default.
• W2030756472 hasConceptScore W2030756472C126322002 @default.
• W2030756472 hasConceptScore W2030756472C127716648 @default.
• W2030756472 hasConceptScore W2030756472C134018914 @default.
• W2030756472 hasConceptScore W2030756472C54355233 @default.
• W2030756472 hasConceptScore W2030756472C71924100 @default.
• W2030756472 hasConceptScore W2030756472C72563966 @default.
• W2030756472 hasConceptScore W2030756472C86803240 @default.
• W2030756472 hasIssue "9" @default.
• W2030756472 hasLocation W20307564721 @default.
• W2030756472 hasLocation W20307564722 @default.

• next