FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2892370675> ?p ?o ?g. }

• W2892370675 abstract "Abstract Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably remove an enhancer or enhancers necessary for SHOX expression in developing limbs. We searched for these active sequences using a transgenic mouse assay and identified a 563 basepair (bp) enhancer with specific activity in the limb regions where SHOX functions. This enhancer has previously escaped notice because of its poor evolutionary conservation, although it does contain 100 bp that are conserved in non-rodent mammals. A primary cell luciferase assay confirmed the enhancer activity of the conserved core sequence and demonstrated that putative HOX binding sites are required for its activity. This enhancer is removed in most non-coding deletions that cause LWD. However, we did not identify any likely pathogenic variants of the enhancer in a screen of 124 LWD individuals for whom no causative mutation had been found, suggesting that only larger deletions in the region commonly cause LWD. We hypothesize that loss of this enhancer contributes to the pathogenicity of deletions downstream of SHOX ." @default.
• W2892370675 created "2018-09-27" @default.
• W2892370675 creator A5007729024 @default.
• W2892370675 creator A5023805283 @default.
• W2892370675 creator A5034013193 @default.
• W2892370675 creator A5061362588 @default.
• W2892370675 creator A5062196780 @default.
• W2892370675 creator A5076106283 @default.
• W2892370675 date "2018-09-24" @default.
• W2892370675 modified "2023-10-05" @default.
• W2892370675 title "Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene" @default.
• W2892370675 cites W1546157935 @default.
• W2892370675 cites W1859117663 @default.
• W2892370675 cites W1868736045 @default.
• W2892370675 cites W1966781601 @default.
• W2892370675 cites W1971495210 @default.
• W2892370675 cites W1973062929 @default.
• W2892370675 cites W1980226362 @default.
• W2892370675 cites W1983238320 @default.
• W2892370675 cites W1984960456 @default.
• W2892370675 cites W1991036278 @default.
• W2892370675 cites W1996760543 @default.
• W2892370675 cites W2002391499 @default.
• W2892370675 cites W2011931786 @default.
• W2892370675 cites W2014736152 @default.
• W2892370675 cites W2022689175 @default.
• W2892370675 cites W2027448315 @default.
• W2892370675 cites W2028962051 @default.
• W2892370675 cites W2031832772 @default.
• W2892370675 cites W2032920257 @default.
• W2892370675 cites W2041866520 @default.
• W2892370675 cites W2042532216 @default.
• W2892370675 cites W2052407549 @default.
• W2892370675 cites W2052714727 @default.
• W2892370675 cites W2055436362 @default.
• W2892370675 cites W2056679562 @default.
• W2892370675 cites W2063288606 @default.
• W2892370675 cites W2063771018 @default.
• W2892370675 cites W2064879068 @default.
• W2892370675 cites W2066371672 @default.
• W2892370675 cites W2070021921 @default.
• W2892370675 cites W2076229197 @default.
• W2892370675 cites W2080152736 @default.
• W2892370675 cites W2080477348 @default.
• W2892370675 cites W2081690442 @default.
• W2892370675 cites W2085315537 @default.
• W2892370675 cites W2088357803 @default.
• W2892370675 cites W2097421667 @default.
• W2892370675 cites W2105896832 @default.
• W2892370675 cites W2110964619 @default.
• W2892370675 cites W2118158563 @default.
• W2892370675 cites W2145144631 @default.
• W2892370675 cites W2155237411 @default.
• W2892370675 cites W2156909165 @default.
• W2892370675 cites W2156916892 @default.
• W2892370675 cites W2157381937 @default.
• W2892370675 cites W2160856280 @default.
• W2892370675 cites W2169280330 @default.
• W2892370675 cites W2171216471 @default.
• W2892370675 cites W2202605954 @default.
• W2892370675 cites W2215815283 @default.
• W2892370675 cites W2255401914 @default.
• W2892370675 cites W2256016639 @default.
• W2892370675 cites W2339656233 @default.
• W2892370675 cites W2415259480 @default.
• W2892370675 cites W2460636183 @default.
• W2892370675 cites W2513048240 @default.
• W2892370675 cites W2536097271 @default.
• W2892370675 cites W2552003712 @default.
• W2892370675 cites W2558556020 @default.
• W2892370675 cites W2559911833 @default.
• W2892370675 cites W2575997426 @default.
• W2892370675 cites W2586728725 @default.
• W2892370675 cites W2786174959 @default.
• W2892370675 doi "https://doi.org/10.1038/s41598-018-32565-1" @default.
• W2892370675 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6155277" @default.
• W2892370675 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30250174" @default.
• W2892370675 hasPublicationYear "2018" @default.
• W2892370675 type Work @default.
• W2892370675 sameAs 2892370675 @default.
• W2892370675 citedByCount "16" @default.
• W2892370675 countsByYear W28923706752019 @default.
• W2892370675 countsByYear W28923706752020 @default.
• W2892370675 countsByYear W28923706752021 @default.
• W2892370675 countsByYear W28923706752022 @default.
• W2892370675 countsByYear W28923706752023 @default.
• W2892370675 crossrefType "journal-article" @default.
• W2892370675 hasAuthorship W2892370675A5007729024 @default.
• W2892370675 hasAuthorship W2892370675A5023805283 @default.
• W2892370675 hasAuthorship W2892370675A5034013193 @default.
• W2892370675 hasAuthorship W2892370675A5061362588 @default.
• W2892370675 hasAuthorship W2892370675A5062196780 @default.
• W2892370675 hasAuthorship W2892370675A5076106283 @default.
• W2892370675 hasBestOaLocation W28923706751 @default.
• W2892370675 hasConcept C104317684 @default.
• W2892370675 hasConcept C111936080 @default.
• W2892370675 hasConcept C127716648 @default.
• W2892370675 hasConcept C150194340 @default.
• W2892370675 hasConcept C199216141 @default.
• W2892370675 hasConcept C21784809 @default.

• next