FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2082551282> ?p ?o ?g. }

• W2082551282 endingPage "8230" @default.
• W2082551282 startingPage "8225" @default.
• W2082551282 abstract "Mutations in the DAX-1 [dosage-sensitive sex reversal–adrenal hypoplasia congenita (AHC) critical region on the X chromosome; NR0B1] gene cause X-linked AHC associated with hypogonadotropic hypogonadism. DAX-1 encodes an unusual orphan member of the nuclear hormone receptor superfamily, acting as a transcriptional repressor of genes involved in the steroidogenic pathway. All DAX-1 mutations found in AHC patients alter the protein C terminus, which shares similarity to the ligand binding domain of nuclear hormone receptors and bears transcriptional repressor activity. This property is invariably impaired in DAX-1 AHC mutants. Here we show that the localization of DAX-1 AHC mutant proteins is drastically shifted toward the cytoplasm, even if their nuclear localization signal, which resides in the N terminal of the protein, is intact. Cytoplasmic localization of DAX-1 AHC mutants correlates with an impairment in their transcriptional repression activity. These results reveal a critical role of an intact C terminus in determining DAX-1 subcellular localization and constitute an important example of a defect in human organogenesis caused by impaired nuclear localization of a transcription factor." @default.
• W2082551282 created "2016-06-24" @default.
• W2082551282 creator A5002007289 @default.
• W2082551282 creator A5034335838 @default.
• W2082551282 creator A5084238877 @default.
• W2082551282 date "2002-05-28" @default.
• W2082551282 modified "2023-10-16" @default.
• W2082551282 title "X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein" @default.
• W2082551282 cites W1213045642 @default.
• W2082551282 cites W1501066624 @default.
• W2082551282 cites W1537498059 @default.
• W2082551282 cites W1660177314 @default.
• W2082551282 cites W1723187988 @default.
• W2082551282 cites W1798563091 @default.
• W2082551282 cites W1976251818 @default.
• W2082551282 cites W1988978443 @default.
• W2082551282 cites W1989308870 @default.
• W2082551282 cites W1991167271 @default.
• W2082551282 cites W1999343359 @default.
• W2082551282 cites W2000777137 @default.
• W2082551282 cites W2011189608 @default.
• W2082551282 cites W2011935366 @default.
• W2082551282 cites W2012694543 @default.
• W2082551282 cites W2020475120 @default.
• W2082551282 cites W2022243182 @default.
• W2082551282 cites W2032354110 @default.
• W2082551282 cites W2035338941 @default.
• W2082551282 cites W2037404178 @default.
• W2082551282 cites W2053521410 @default.
• W2082551282 cites W2068598011 @default.
• W2082551282 cites W2072386144 @default.
• W2082551282 cites W2072557441 @default.
• W2082551282 cites W2094380636 @default.
• W2082551282 cites W2098370376 @default.
• W2082551282 cites W2103653609 @default.
• W2082551282 cites W2111247632 @default.
• W2082551282 cites W2116258982 @default.
• W2082551282 cites W2131079238 @default.
• W2082551282 cites W2131580970 @default.
• W2082551282 cites W2138346779 @default.
• W2082551282 cites W2148941073 @default.
• W2082551282 cites W2168933737 @default.
• W2082551282 cites W2171226274 @default.
• W2082551282 cites W2172256092 @default.
• W2082551282 cites W2179648988 @default.
• W2082551282 cites W2324710644 @default.
• W2082551282 cites W2325495195 @default.
• W2082551282 cites W2461649152 @default.
• W2082551282 cites W4379370535 @default.
• W2082551282 cites W59002756 @default.
• W2082551282 cites W69516432 @default.
• W2082551282 doi "https://doi.org/10.1073/pnas.122044099" @default.
• W2082551282 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/123049" @default.
• W2082551282 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12034880" @default.
• W2082551282 hasPublicationYear "2002" @default.
• W2082551282 type Work @default.
• W2082551282 sameAs 2082551282 @default.
• W2082551282 citedByCount "51" @default.
• W2082551282 countsByYear W20825512822012 @default.
• W2082551282 countsByYear W20825512822014 @default.
• W2082551282 countsByYear W20825512822015 @default.
• W2082551282 countsByYear W20825512822016 @default.
• W2082551282 countsByYear W20825512822021 @default.
• W2082551282 countsByYear W20825512822022 @default.
• W2082551282 crossrefType "journal-article" @default.
• W2082551282 hasAuthorship W2082551282A5002007289 @default.
• W2082551282 hasAuthorship W2082551282A5034335838 @default.
• W2082551282 hasAuthorship W2082551282A5084238877 @default.
• W2082551282 hasBestOaLocation W20825512822 @default.
• W2082551282 hasConcept C104317684 @default.
• W2082551282 hasConcept C143065580 @default.
• W2082551282 hasConcept C153911025 @default.
• W2082551282 hasConcept C158448853 @default.
• W2082551282 hasConcept C2776879804 @default.
• W2082551282 hasConcept C2780114586 @default.
• W2082551282 hasConcept C29512474 @default.
• W2082551282 hasConcept C49805395 @default.
• W2082551282 hasConcept C54355233 @default.
• W2082551282 hasConcept C59157529 @default.
• W2082551282 hasConcept C63932345 @default.
• W2082551282 hasConcept C86339819 @default.
• W2082551282 hasConcept C86803240 @default.
• W2082551282 hasConcept C95444343 @default.
• W2082551282 hasConceptScore W2082551282C104317684 @default.
• W2082551282 hasConceptScore W2082551282C143065580 @default.
• W2082551282 hasConceptScore W2082551282C153911025 @default.
• W2082551282 hasConceptScore W2082551282C158448853 @default.
• W2082551282 hasConceptScore W2082551282C2776879804 @default.
• W2082551282 hasConceptScore W2082551282C2780114586 @default.
• W2082551282 hasConceptScore W2082551282C29512474 @default.
• W2082551282 hasConceptScore W2082551282C49805395 @default.
• W2082551282 hasConceptScore W2082551282C54355233 @default.
• W2082551282 hasConceptScore W2082551282C59157529 @default.
• W2082551282 hasConceptScore W2082551282C63932345 @default.
• W2082551282 hasConceptScore W2082551282C86339819 @default.
• W2082551282 hasConceptScore W2082551282C86803240 @default.
• W2082551282 hasConceptScore W2082551282C95444343 @default.
• W2082551282 hasIssue "12" @default.

• next