FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2108671049> ?p ?o ?g. }

• W2108671049 endingPage "3048" @default.
• W2108671049 startingPage "3041" @default.
• W2108671049 abstract "We report the characterization of the nuclear localization signal (NLS) of the short stature homeobox gene SHOX. Mutations within the SHOX gene cause Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LD) as well as idiopathic short stature (ISS). Furthermore, haploinsufficiency of SHOX has also been implicated in Turner syndrome. SHOX has been shown to be a cell-type-specific transcriptional activator that localizes to the nucleus. The SHOX protein contains a central homeodomain that together with its transactivation domain regulates the transcription of its target sequences within the nucleus. The sequences for its nuclear localization have not been identified yet. Experimental characterization of SHOX-NLS by deletion mapping identified a non-classic type basic signal, AKCRK, in the recognition helix of the homeodomain. Fusion of this stretch of five amino acids to a cytoplasmic reporter protein resulted in its nuclear translocation. Functional analysis of a missense mutation R173C (C517T) affecting the identified SHOX-NLS in two families with LWS and LD showed that the mutated SHOX protein is unable to enter the nucleus. Conversely, we can demonstrate that insertion of the identified signal adjacent to the mutant site can restore its nuclear translocation. These results establish impairment of nuclear localization as a mechanistic basis for SHOX-related diseases." @default.
• W2108671049 created "2016-06-24" @default.
• W2108671049 creator A5011462407 @default.
• W2108671049 creator A5018068390 @default.
• W2108671049 creator A5039694771 @default.
• W2108671049 creator A5041152630 @default.
• W2108671049 creator A5063819807 @default.
• W2108671049 date "2004-06-15" @default.
• W2108671049 modified "2023-10-06" @default.
• W2108671049 title "Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome" @default.
• W2108671049 cites W1896625973 @default.
• W2108671049 cites W1963577223 @default.
• W2108671049 cites W1970102692 @default.
• W2108671049 cites W1973460954 @default.
• W2108671049 cites W1978483169 @default.
• W2108671049 cites W1992210711 @default.
• W2108671049 cites W2004876851 @default.
• W2108671049 cites W2005759400 @default.
• W2108671049 cites W2016493017 @default.
• W2108671049 cites W2025694884 @default.
• W2108671049 cites W2032662973 @default.
• W2108671049 cites W2033722975 @default.
• W2108671049 cites W2040933678 @default.
• W2108671049 cites W2050411421 @default.
• W2108671049 cites W2050931918 @default.
• W2108671049 cites W2053890772 @default.
• W2108671049 cites W2060088582 @default.
• W2108671049 cites W2066171378 @default.
• W2108671049 cites W2073681698 @default.
• W2108671049 cites W2075276135 @default.
• W2108671049 cites W2100455932 @default.
• W2108671049 cites W2100861348 @default.
• W2108671049 cites W2114556828 @default.
• W2108671049 cites W2114588135 @default.
• W2108671049 cites W2119743029 @default.
• W2108671049 cites W2131139057 @default.
• W2108671049 cites W2134212409 @default.
• W2108671049 cites W2134231018 @default.
• W2108671049 cites W2151298994 @default.
• W2108671049 cites W2155246478 @default.
• W2108671049 cites W2157381937 @default.
• W2108671049 cites W2158869723 @default.
• W2108671049 cites W2159232961 @default.
• W2108671049 cites W2160453337 @default.
• W2108671049 doi "https://doi.org/10.1242/jcs.01152" @default.
• W2108671049 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15173321" @default.
• W2108671049 hasPublicationYear "2004" @default.
• W2108671049 type Work @default.
• W2108671049 sameAs 2108671049 @default.
• W2108671049 citedByCount "30" @default.
• W2108671049 countsByYear W21086710492012 @default.
• W2108671049 countsByYear W21086710492014 @default.
• W2108671049 countsByYear W21086710492015 @default.
• W2108671049 countsByYear W21086710492016 @default.
• W2108671049 countsByYear W21086710492017 @default.
• W2108671049 countsByYear W21086710492018 @default.
• W2108671049 countsByYear W21086710492019 @default.
• W2108671049 countsByYear W21086710492021 @default.
• W2108671049 countsByYear W21086710492022 @default.
• W2108671049 countsByYear W21086710492023 @default.
• W2108671049 crossrefType "journal-article" @default.
• W2108671049 hasAuthorship W2108671049A5011462407 @default.
• W2108671049 hasAuthorship W2108671049A5018068390 @default.
• W2108671049 hasAuthorship W2108671049A5039694771 @default.
• W2108671049 hasAuthorship W2108671049A5041152630 @default.
• W2108671049 hasAuthorship W2108671049A5063819807 @default.
• W2108671049 hasConcept C104317684 @default.
• W2108671049 hasConcept C121587040 @default.
• W2108671049 hasConcept C127716648 @default.
• W2108671049 hasConcept C1292079 @default.
• W2108671049 hasConcept C186435350 @default.
• W2108671049 hasConcept C49805395 @default.
• W2108671049 hasConcept C501734568 @default.
• W2108671049 hasConcept C54355233 @default.
• W2108671049 hasConcept C68838962 @default.
• W2108671049 hasConcept C75563809 @default.
• W2108671049 hasConcept C86339819 @default.
• W2108671049 hasConcept C86803240 @default.
• W2108671049 hasConceptScore W2108671049C104317684 @default.
• W2108671049 hasConceptScore W2108671049C121587040 @default.
• W2108671049 hasConceptScore W2108671049C127716648 @default.
• W2108671049 hasConceptScore W2108671049C1292079 @default.
• W2108671049 hasConceptScore W2108671049C186435350 @default.
• W2108671049 hasConceptScore W2108671049C49805395 @default.
• W2108671049 hasConceptScore W2108671049C501734568 @default.
• W2108671049 hasConceptScore W2108671049C54355233 @default.
• W2108671049 hasConceptScore W2108671049C68838962 @default.
• W2108671049 hasConceptScore W2108671049C75563809 @default.
• W2108671049 hasConceptScore W2108671049C86339819 @default.
• W2108671049 hasConceptScore W2108671049C86803240 @default.
• W2108671049 hasIssue "14" @default.
• W2108671049 hasLocation W21086710491 @default.
• W2108671049 hasLocation W21086710492 @default.
• W2108671049 hasOpenAccess W2108671049 @default.
• W2108671049 hasPrimaryLocation W21086710491 @default.
• W2108671049 hasRelatedWork W1973431915 @default.
• W2108671049 hasRelatedWork W1994968928 @default.
• W2108671049 hasRelatedWork W2003751880 @default.

• next