Matches in SemOpenAlex for { <https://semopenalex.org/work/W2087543042> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2087543042 endingPage "809" @default.
- W2087543042 startingPage "806" @default.
- W2087543042 abstract "Summary Objective Sequence alterations in untranslated regions (UTRs) of genes are important contributors to human diseases, including hereditary thrombophilia, hereditary hyperferritinaemia‐cataract and fragile X mental retardation syndromes. Recently, functional studies of the 3′‐UTR of the PTH gene, encoding parathyroid hormone, have highlighted it as a potential target for pathogenic mutations in patients with parathyroid dysfunction. Regulation of PTH gene expression occurs in part through protein binding to a specific 26 nucleotide instability element in the 3′‐UTR of PTH mRNA, in a sequence‐dependent manner. Thus, the PTH 3′‐UTR has emerged as an important potential contributor to parathyroid dysfunction. Therefore, we sought to rigorously examine the PTH 3′‐UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis. Patients and design Twenty‐one parathyroid glands from 14 patients with primary parathyroid hyperplasia, 40 sporadic parathyroid adenomas from 40 patients, 42 parathyroid glands from 29 patients with secondary parathyroid hyperplasia and peripheral blood leucocytes from 24 affected members of eight kindreds with familial hypoparathyroidism of unknown genetic basis were examined for mutations in the 3′‐UTR of the PTH gene. Results No alterations from the normal sequence were detected in any of the 127 samples examined. Conclusions Based on the absence of identifiable DNA sequence alterations in these forms of parathyroid dysfunction, it is unlikely that mutation of the PTH 3′‐UTR contributes frequently to their pathogenesis." @default.
- W2087543042 created "2016-06-24" @default.
- W2087543042 creator A5027571219 @default.
- W2087543042 creator A5035298381 @default.
- W2087543042 creator A5049232174 @default.
- W2087543042 creator A5073940230 @default.
- W2087543042 creator A5076963728 @default.
- W2087543042 date "2006-10-20" @default.
- W2087543042 modified "2023-10-15" @default.
- W2087543042 title "Mutational analysis of the PTH 3'-untranslated region in parathyroid disorders" @default.
- W2087543042 cites W1510239610 @default.
- W2087543042 cites W1968434592 @default.
- W2087543042 cites W1978647937 @default.
- W2087543042 cites W1983474825 @default.
- W2087543042 cites W1985051524 @default.
- W2087543042 cites W1997008150 @default.
- W2087543042 cites W2009683617 @default.
- W2087543042 cites W2010599278 @default.
- W2087543042 cites W2025728827 @default.
- W2087543042 cites W2050976323 @default.
- W2087543042 cites W2073483343 @default.
- W2087543042 cites W2085943117 @default.
- W2087543042 cites W2089070616 @default.
- W2087543042 cites W2094659486 @default.
- W2087543042 cites W2096917656 @default.
- W2087543042 cites W2323575595 @default.
- W2087543042 cites W2326971455 @default.
- W2087543042 cites W2581039671 @default.
- W2087543042 cites W4242807883 @default.
- W2087543042 cites W4245682733 @default.
- W2087543042 cites W4323254681 @default.
- W2087543042 doi "https://doi.org/10.1111/j.1365-2265.2006.02670.x" @default.
- W2087543042 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17121534" @default.
- W2087543042 hasPublicationYear "2006" @default.
- W2087543042 type Work @default.
- W2087543042 sameAs 2087543042 @default.
- W2087543042 citedByCount "3" @default.
- W2087543042 crossrefType "journal-article" @default.
- W2087543042 hasAuthorship W2087543042A5027571219 @default.
- W2087543042 hasAuthorship W2087543042A5035298381 @default.
- W2087543042 hasAuthorship W2087543042A5049232174 @default.
- W2087543042 hasAuthorship W2087543042A5073940230 @default.
- W2087543042 hasAuthorship W2087543042A5076963728 @default.
- W2087543042 hasConcept C104317684 @default.
- W2087543042 hasConcept C105580179 @default.
- W2087543042 hasConcept C126322002 @default.
- W2087543042 hasConcept C134018914 @default.
- W2087543042 hasConcept C193699699 @default.
- W2087543042 hasConcept C2775941721 @default.
- W2087543042 hasConcept C2777428134 @default.
- W2087543042 hasConcept C2777562237 @default.
- W2087543042 hasConcept C2779053571 @default.
- W2087543042 hasConcept C2780273267 @default.
- W2087543042 hasConcept C2781208988 @default.
- W2087543042 hasConcept C519063684 @default.
- W2087543042 hasConcept C54355233 @default.
- W2087543042 hasConcept C71924100 @default.
- W2087543042 hasConcept C86803240 @default.
- W2087543042 hasConcept C89604277 @default.
- W2087543042 hasConceptScore W2087543042C104317684 @default.
- W2087543042 hasConceptScore W2087543042C105580179 @default.
- W2087543042 hasConceptScore W2087543042C126322002 @default.
- W2087543042 hasConceptScore W2087543042C134018914 @default.
- W2087543042 hasConceptScore W2087543042C193699699 @default.
- W2087543042 hasConceptScore W2087543042C2775941721 @default.
- W2087543042 hasConceptScore W2087543042C2777428134 @default.
- W2087543042 hasConceptScore W2087543042C2777562237 @default.
- W2087543042 hasConceptScore W2087543042C2779053571 @default.
- W2087543042 hasConceptScore W2087543042C2780273267 @default.
- W2087543042 hasConceptScore W2087543042C2781208988 @default.
- W2087543042 hasConceptScore W2087543042C519063684 @default.
- W2087543042 hasConceptScore W2087543042C54355233 @default.
- W2087543042 hasConceptScore W2087543042C71924100 @default.
- W2087543042 hasConceptScore W2087543042C86803240 @default.
- W2087543042 hasConceptScore W2087543042C89604277 @default.
- W2087543042 hasIssue "6" @default.
- W2087543042 hasLocation W20875430421 @default.
- W2087543042 hasLocation W20875430422 @default.
- W2087543042 hasOpenAccess W2087543042 @default.
- W2087543042 hasPrimaryLocation W20875430421 @default.
- W2087543042 hasRelatedWork W1999478654 @default.
- W2087543042 hasRelatedWork W2106840769 @default.
- W2087543042 hasRelatedWork W2109006433 @default.
- W2087543042 hasRelatedWork W2331176814 @default.
- W2087543042 hasRelatedWork W2406365016 @default.
- W2087543042 hasRelatedWork W2411162319 @default.
- W2087543042 hasRelatedWork W2625304957 @default.
- W2087543042 hasRelatedWork W2766146386 @default.
- W2087543042 hasRelatedWork W2802966742 @default.
- W2087543042 hasRelatedWork W384559701 @default.
- W2087543042 hasVolume "65" @default.
- W2087543042 isParatext "false" @default.
- W2087543042 isRetracted "false" @default.
- W2087543042 magId "2087543042" @default.
- W2087543042 workType "article" @default.