FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1968337152> ?p ?o ?g. }

• W1968337152 endingPage "595" @default.
• W1968337152 startingPage "592" @default.
• W1968337152 abstract "The Hyp mouse is a commonly used model for the study of the phosphate wasting disease X-linked hypophosphataemia. The defect in this mouse line is a deletion that includes exons 16 to 22 of Phex, although the exact extent of this X chromosome deletion remains unknown. This complicates genotyping which increases costs, time and difficulty of working with this important model. We aimed to determine the molecular breakpoints of this deletion in order develop a robust assay for its detection. We designed short mapping PCRs around the Phex locus to refine the putative breakpoint locations, then used gap PCR to amplify a product containing the breakpoint junction. DNA sequencing showed the deleted region was approximately 297 kb, significantly larger than previous reports, but did not contain any genes other than Phex. DNA sequence analysis revealed that this deletion may be the result of microhomology-mediated end joining. Finally, we designed a multiplex PCR assay for genotyping Hyp colonies and validated it using a panel of Hyp colony mice. This study provides confirmation of the Hyp phenotype as a single gene defect, a potential mechanism for its formation and an improved method for genotyping that will make working with this strain significantly easier." @default.
• W1968337152 created "2016-06-24" @default.
• W1968337152 creator A5009920970 @default.
• W1968337152 creator A5030109852 @default.
• W1968337152 creator A5046597133 @default.
• W1968337152 creator A5047490340 @default.
• W1968337152 date "2012-03-01" @default.
• W1968337152 modified "2023-10-11" @default.
• W1968337152 title "Molecular characterisation of the Hyp deletion and an improved assay for its detection" @default.
• W1968337152 cites W2000736072 @default.
• W1968337152 cites W2008101181 @default.
• W1968337152 cites W2010711320 @default.
• W1968337152 cites W2034649336 @default.
• W1968337152 cites W2062254236 @default.
• W1968337152 cites W2081594039 @default.
• W1968337152 cites W2103945127 @default.
• W1968337152 cites W2104789942 @default.
• W1968337152 cites W2132920733 @default.
• W1968337152 cites W2152109784 @default.
• W1968337152 doi "https://doi.org/10.1016/j.bone.2011.11.018" @default.
• W1968337152 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3278584" @default.
• W1968337152 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22155509" @default.
• W1968337152 hasPublicationYear "2012" @default.
• W1968337152 type Work @default.
• W1968337152 sameAs 1968337152 @default.
• W1968337152 citedByCount "5" @default.
• W1968337152 countsByYear W19683371522013 @default.
• W1968337152 countsByYear W19683371522017 @default.
• W1968337152 countsByYear W19683371522018 @default.
• W1968337152 countsByYear W19683371522020 @default.
• W1968337152 crossrefType "journal-article" @default.
• W1968337152 hasAuthorship W1968337152A5009920970 @default.
• W1968337152 hasAuthorship W1968337152A5030109852 @default.
• W1968337152 hasAuthorship W1968337152A5046597133 @default.
• W1968337152 hasAuthorship W1968337152A5047490340 @default.
• W1968337152 hasBestOaLocation W19683371522 @default.
• W1968337152 hasConcept C104317684 @default.
• W1968337152 hasConcept C124490489 @default.
• W1968337152 hasConcept C127716648 @default.
• W1968337152 hasConcept C134018914 @default.
• W1968337152 hasConcept C135763542 @default.
• W1968337152 hasConcept C138626823 @default.
• W1968337152 hasConcept C153911025 @default.
• W1968337152 hasConcept C178790620 @default.
• W1968337152 hasConcept C185592680 @default.
• W1968337152 hasConcept C206936463 @default.
• W1968337152 hasConcept C2776338720 @default.
• W1968337152 hasConcept C2776489590 @default.
• W1968337152 hasConcept C2777563447 @default.
• W1968337152 hasConcept C2781188995 @default.
• W1968337152 hasConcept C31467283 @default.
• W1968337152 hasConcept C36823959 @default.
• W1968337152 hasConcept C49105822 @default.
• W1968337152 hasConcept C54355233 @default.
• W1968337152 hasConcept C552990157 @default.
• W1968337152 hasConcept C84597430 @default.
• W1968337152 hasConcept C86803240 @default.
• W1968337152 hasConcept C90583042 @default.
• W1968337152 hasConceptScore W1968337152C104317684 @default.
• W1968337152 hasConceptScore W1968337152C124490489 @default.
• W1968337152 hasConceptScore W1968337152C127716648 @default.
• W1968337152 hasConceptScore W1968337152C134018914 @default.
• W1968337152 hasConceptScore W1968337152C135763542 @default.
• W1968337152 hasConceptScore W1968337152C138626823 @default.
• W1968337152 hasConceptScore W1968337152C153911025 @default.
• W1968337152 hasConceptScore W1968337152C178790620 @default.
• W1968337152 hasConceptScore W1968337152C185592680 @default.
• W1968337152 hasConceptScore W1968337152C206936463 @default.
• W1968337152 hasConceptScore W1968337152C2776338720 @default.
• W1968337152 hasConceptScore W1968337152C2776489590 @default.
• W1968337152 hasConceptScore W1968337152C2777563447 @default.
• W1968337152 hasConceptScore W1968337152C2781188995 @default.
• W1968337152 hasConceptScore W1968337152C31467283 @default.
• W1968337152 hasConceptScore W1968337152C36823959 @default.
• W1968337152 hasConceptScore W1968337152C49105822 @default.
• W1968337152 hasConceptScore W1968337152C54355233 @default.
• W1968337152 hasConceptScore W1968337152C552990157 @default.
• W1968337152 hasConceptScore W1968337152C84597430 @default.
• W1968337152 hasConceptScore W1968337152C86803240 @default.
• W1968337152 hasConceptScore W1968337152C90583042 @default.
• W1968337152 hasIssue "3" @default.
• W1968337152 hasLocation W19683371521 @default.
• W1968337152 hasLocation W19683371522 @default.
• W1968337152 hasLocation W19683371523 @default.
• W1968337152 hasLocation W19683371524 @default.
• W1968337152 hasOpenAccess W1968337152 @default.
• W1968337152 hasPrimaryLocation W19683371521 @default.
• W1968337152 hasRelatedWork W1983450285 @default.
• W1968337152 hasRelatedWork W1985167107 @default.
• W1968337152 hasRelatedWork W2003743322 @default.
• W1968337152 hasRelatedWork W2047940529 @default.
• W1968337152 hasRelatedWork W2103953029 @default.
• W1968337152 hasRelatedWork W2114776760 @default.
• W1968337152 hasRelatedWork W2122401733 @default.
• W1968337152 hasRelatedWork W2125087555 @default.
• W1968337152 hasRelatedWork W2133683229 @default.
• W1968337152 hasRelatedWork W2555050655 @default.
• W1968337152 hasVolume "50" @default.

• next