FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2008335968> ?p ?o ?g. }

• W2008335968 endingPage "293" @default.
• W2008335968 startingPage "285" @default.
• W2008335968 abstract "Mutations in the sedlin gene cause spondyloepiphyseal dysplasia tarda (SEDT), a rare X-linked chondrodysplasia. Affected males suffer short stature, deformation of the spine and hips, and deterioration of intervertebral discs with characteristic radiographic changes in the vertebrae. We have sequenced two full-length cDNA clones corresponding to the human sedlin gene. The longest cDNA is 2836 bp, containing a 218 bp 5' untranslated region, a 423 bp coding region, and a 2195 bp 3' untranslated region. The second cDNA does not contain exon 2, suggesting alternative splicing. Sedlin was finely mapped in Xp22.2 by Southern blot analysis on a yeast artificial chromosome/bacterial artificial chromosome map. Comparison of the cDNA sequence and genomic sequence identified six sedlin exons of 67, 142, 112, 147, 84, and 2259 bp. The corresponding introns vary in size from 339 to 14,061 bp. Splice site sequences for four of the five introns conform to the GT/AG consensus sequences, however, the splice site between exons 4 and 5 displays a rare non-canonical splice site sequence, AT/AC. Northern blot analysis showed expression of the sedlin gene in all human adult and fetal tissues tested, with the highest levels in kidney, heart, skeletal muscle, liver, and placenta. Four mRNA sizes were detected with the major band being 3 kb and minor bands of 5, 1.6, and 0.9 kb (the smallest product may reflect a sedlin pseudogene). Sedlin is expressed from both the active and the inactive human X chromosomes helping to explain the recessive nature and consistent presentation of the disease. Human sedlin shows homology to a yeast gene, which conditions endoplasmic reticulum/golgi transport. Characterization of the human sedlin cDNA and determination of the sedlin gene structure enable functional studies of sedlin and elucidation of the pathogenesis of SEDT." @default.
• W2008335968 created "2016-06-24" @default.
• W2008335968 creator A5018740865 @default.
• W2008335968 creator A5020817084 @default.
• W2008335968 creator A5036775753 @default.
• W2008335968 creator A5061903176 @default.
• W2008335968 creator A5090615171 @default.
• W2008335968 date "2001-08-01" @default.
• W2008335968 modified "2023-10-17" @default.
• W2008335968 title "The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site" @default.
• W2008335968 cites W1483146752 @default.
• W2008335968 cites W1967359786 @default.
• W2008335968 cites W1973445288 @default.
• W2008335968 cites W1973624263 @default.
• W2008335968 cites W1977192306 @default.
• W2008335968 cites W1980387786 @default.
• W2008335968 cites W1996309079 @default.
• W2008335968 cites W2009753392 @default.
• W2008335968 cites W2075694447 @default.
• W2008335968 cites W2081561814 @default.
• W2008335968 cites W2083501153 @default.
• W2008335968 cites W2090051505 @default.
• W2008335968 cites W2092787490 @default.
• W2008335968 cites W2094003904 @default.
• W2008335968 cites W2109183032 @default.
• W2008335968 cites W2113604755 @default.
• W2008335968 cites W2130219311 @default.
• W2008335968 cites W2136630287 @default.
• W2008335968 cites W2147402219 @default.
• W2008335968 cites W2163570826 @default.
• W2008335968 cites W2320917459 @default.
• W2008335968 cites W4237778249 @default.
• W2008335968 cites W75129883 @default.
• W2008335968 doi "https://doi.org/10.1016/s0378-1119(01)00571-6" @default.
• W2008335968 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11595175" @default.
• W2008335968 hasPublicationYear "2001" @default.
• W2008335968 type Work @default.
• W2008335968 sameAs 2008335968 @default.
• W2008335968 citedByCount "18" @default.
• W2008335968 countsByYear W20083359682012 @default.
• W2008335968 countsByYear W20083359682013 @default.
• W2008335968 countsByYear W20083359682014 @default.
• W2008335968 countsByYear W20083359682015 @default.
• W2008335968 crossrefType "journal-article" @default.
• W2008335968 hasAuthorship W2008335968A5018740865 @default.
• W2008335968 hasAuthorship W2008335968A5020817084 @default.
• W2008335968 hasAuthorship W2008335968A5036775753 @default.
• W2008335968 hasAuthorship W2008335968A5061903176 @default.
• W2008335968 hasAuthorship W2008335968A5090615171 @default.
• W2008335968 hasConcept C104317684 @default.
• W2008335968 hasConcept C105580179 @default.
• W2008335968 hasConcept C122735190 @default.
• W2008335968 hasConcept C153911025 @default.
• W2008335968 hasConcept C187882448 @default.
• W2008335968 hasConcept C194583182 @default.
• W2008335968 hasConcept C30481170 @default.
• W2008335968 hasConcept C36823959 @default.
• W2008335968 hasConcept C39917842 @default.
• W2008335968 hasConcept C54355233 @default.
• W2008335968 hasConcept C62257209 @default.
• W2008335968 hasConcept C6970260 @default.
• W2008335968 hasConcept C86803240 @default.
• W2008335968 hasConcept C89604277 @default.
• W2008335968 hasConcept C91779695 @default.
• W2008335968 hasConcept C94671646 @default.
• W2008335968 hasConceptScore W2008335968C104317684 @default.
• W2008335968 hasConceptScore W2008335968C105580179 @default.
• W2008335968 hasConceptScore W2008335968C122735190 @default.
• W2008335968 hasConceptScore W2008335968C153911025 @default.
• W2008335968 hasConceptScore W2008335968C187882448 @default.
• W2008335968 hasConceptScore W2008335968C194583182 @default.
• W2008335968 hasConceptScore W2008335968C30481170 @default.
• W2008335968 hasConceptScore W2008335968C36823959 @default.
• W2008335968 hasConceptScore W2008335968C39917842 @default.
• W2008335968 hasConceptScore W2008335968C54355233 @default.
• W2008335968 hasConceptScore W2008335968C62257209 @default.
• W2008335968 hasConceptScore W2008335968C6970260 @default.
• W2008335968 hasConceptScore W2008335968C86803240 @default.
• W2008335968 hasConceptScore W2008335968C89604277 @default.
• W2008335968 hasConceptScore W2008335968C91779695 @default.
• W2008335968 hasConceptScore W2008335968C94671646 @default.
• W2008335968 hasIssue "2" @default.
• W2008335968 hasLocation W20083359681 @default.
• W2008335968 hasLocation W20083359682 @default.
• W2008335968 hasOpenAccess W2008335968 @default.
• W2008335968 hasPrimaryLocation W20083359681 @default.
• W2008335968 hasRelatedWork W1972913757 @default.
• W2008335968 hasRelatedWork W2013123757 @default.
• W2008335968 hasRelatedWork W2013263640 @default.
• W2008335968 hasRelatedWork W2039330132 @default.
• W2008335968 hasRelatedWork W2040290690 @default.
• W2008335968 hasRelatedWork W2053846799 @default.
• W2008335968 hasRelatedWork W2054014494 @default.
• W2008335968 hasRelatedWork W2085975240 @default.
• W2008335968 hasRelatedWork W2093576789 @default.
• W2008335968 hasRelatedWork W2412428186 @default.
• W2008335968 hasVolume "273" @default.
• W2008335968 isParatext "false" @default.

• next