FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2114559575> ?p ?o ?g. }

• W2114559575 abstract "A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or “eExons”. We screened a cohort of 134 unrelated families with split-hand/split-foot malformation (SHFM) with high resolution array CGH for CNVs with regulatory potential. In three families with an autosomal dominant non-syndromic SHFM phenotype we detected microdeletions encompassing the exonic enhancer (eExons) 15 and 17 of DYNC1I1. In a fourth family, who had hearing loss in addition to SHFM, we found a larger deletion of 510 kb including the eExons of DYNC1I1 and, in addition, the human brain enhancer hs1642. Exons 15 and 17 of DYNC1I1 are known to act as tissue specific limb enhancers of DLX5/6, two genes that have been shown to be associated with SHFM in mice. In our cohort of 134 unrelated families with SHFM, deletions of the eExons of DYNC1I1 account for approximately 3% of the cases, while 17p13.3 duplications were identified in 13% of the families, 10q24 duplications in 12%, and TP63 mutations were detected in 4%. We reduce the minimal critical region for SHFM1 to 78 kb. Hearing loss, however, appears to be associated with deletions of a more telomeric region encompassing the brain enhancer element hs1642. Thus, SHFM1 as well as hearing loss at the same locus are caused by deletion of regulatory elements. Deletions of the exons with regulatory potential of DYNC1I1 are an example of the emerging role of exonic enhancer elements and their implications in congenital malformation syndromes." @default.
• W2114559575 created "2016-06-24" @default.
• W2114559575 creator A5004762064 @default.
• W2114559575 creator A5012988621 @default.
• W2114559575 creator A5013767743 @default.
• W2114559575 creator A5014532360 @default.
• W2114559575 creator A5023743496 @default.
• W2114559575 creator A5024177872 @default.
• W2114559575 creator A5037429670 @default.
• W2114559575 creator A5049446559 @default.
• W2114559575 creator A5061459999 @default.
• W2114559575 creator A5071926823 @default.
• W2114559575 creator A5074685358 @default.
• W2114559575 date "2014-07-29" @default.
• W2114559575 modified "2023-10-18" @default.
• W2114559575 title "Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families" @default.
• W2114559575 cites W1594570392 @default.
• W2114559575 cites W1608709490 @default.
• W2114559575 cites W1980778918 @default.
• W2114559575 cites W1993306058 @default.
• W2114559575 cites W1999241881 @default.
• W2114559575 cites W2008249067 @default.
• W2114559575 cites W2016563314 @default.
• W2114559575 cites W2023889218 @default.
• W2114559575 cites W2025126642 @default.
• W2114559575 cites W2026474025 @default.
• W2114559575 cites W2032417476 @default.
• W2114559575 cites W2032695182 @default.
• W2114559575 cites W2033201031 @default.
• W2114559575 cites W2038907096 @default.
• W2114559575 cites W2049060775 @default.
• W2114559575 cites W2079477526 @default.
• W2114559575 cites W2080849609 @default.
• W2114559575 cites W2090050851 @default.
• W2114559575 cites W2092092159 @default.
• W2114559575 cites W2093494825 @default.
• W2114559575 cites W2104640608 @default.
• W2114559575 cites W2106730339 @default.
• W2114559575 cites W2107191411 @default.
• W2114559575 cites W2116979311 @default.
• W2114559575 cites W2124424948 @default.
• W2114559575 cites W2129875194 @default.
• W2114559575 cites W2135144225 @default.
• W2114559575 cites W2137987108 @default.
• W2114559575 cites W2140980807 @default.
• W2114559575 cites W2142320568 @default.
• W2114559575 cites W2144553391 @default.
• W2114559575 cites W2149202334 @default.
• W2114559575 cites W2155615244 @default.
• W2114559575 cites W2161770924 @default.
• W2114559575 cites W2163507220 @default.
• W2114559575 cites W2166711515 @default.
• W2114559575 cites W2170421665 @default.
• W2114559575 cites W2307132775 @default.
• W2114559575 doi "https://doi.org/10.1186/s13023-014-0108-6" @default.
• W2114559575 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4237947" @default.
• W2114559575 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25231166" @default.
• W2114559575 hasPublicationYear "2014" @default.
• W2114559575 type Work @default.
• W2114559575 sameAs 2114559575 @default.
• W2114559575 citedByCount "42" @default.
• W2114559575 countsByYear W21145595752014 @default.
• W2114559575 countsByYear W21145595752015 @default.
• W2114559575 countsByYear W21145595752016 @default.
• W2114559575 countsByYear W21145595752018 @default.
• W2114559575 countsByYear W21145595752019 @default.
• W2114559575 countsByYear W21145595752020 @default.
• W2114559575 countsByYear W21145595752021 @default.
• W2114559575 countsByYear W21145595752022 @default.
• W2114559575 countsByYear W21145595752023 @default.
• W2114559575 crossrefType "journal-article" @default.
• W2114559575 hasAuthorship W2114559575A5004762064 @default.
• W2114559575 hasAuthorship W2114559575A5012988621 @default.
• W2114559575 hasAuthorship W2114559575A5013767743 @default.
• W2114559575 hasAuthorship W2114559575A5014532360 @default.
• W2114559575 hasAuthorship W2114559575A5023743496 @default.
• W2114559575 hasAuthorship W2114559575A5024177872 @default.
• W2114559575 hasAuthorship W2114559575A5037429670 @default.
• W2114559575 hasAuthorship W2114559575A5049446559 @default.
• W2114559575 hasAuthorship W2114559575A5061459999 @default.
• W2114559575 hasAuthorship W2114559575A5071926823 @default.
• W2114559575 hasAuthorship W2114559575A5074685358 @default.
• W2114559575 hasBestOaLocation W21145595751 @default.
• W2114559575 hasConcept C104317684 @default.
• W2114559575 hasConcept C111936080 @default.
• W2114559575 hasConcept C120821319 @default.
• W2114559575 hasConcept C127716648 @default.
• W2114559575 hasConcept C141231307 @default.
• W2114559575 hasConcept C36823959 @default.
• W2114559575 hasConcept C47042493 @default.
• W2114559575 hasConcept C54355233 @default.
• W2114559575 hasConcept C84597430 @default.
• W2114559575 hasConcept C86339819 @default.
• W2114559575 hasConcept C86803240 @default.
• W2114559575 hasConceptScore W2114559575C104317684 @default.
• W2114559575 hasConceptScore W2114559575C111936080 @default.
• W2114559575 hasConceptScore W2114559575C120821319 @default.
• W2114559575 hasConceptScore W2114559575C127716648 @default.
• W2114559575 hasConceptScore W2114559575C141231307 @default.
• W2114559575 hasConceptScore W2114559575C36823959 @default.

• next