FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2034403814> ?p ?o ?g. }

• W2034403814 endingPage "5208" @default.
• W2034403814 startingPage "5203" @default.
• W2034403814 abstract "Genomic imprinting plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndrome (BWS), a disorder of prenatal overgrowth and predisposition to embryonal malignancies such as Wilms tumor. We have previously shown that the KVLQT1 gene on chromosomal band 11p15 is imprinted, with expression of the maternal allele, and that the maternal allele is disrupted in rare BWS patients with balanced germ-line chromosomal rearrangements. We now show that an antisense orientation transcript within KVLQT1, termed LIT1 (long QT intronic transcript 1) is expressed normally from the paternal allele, from which KVLQT1 transcription is silent, and that in the majority of patients with BWS, LIT1 is abnormally expressed from both the paternal and maternal alleles. Eight of sixteen informative BWS patients (50%) showed biallelic expression, i.e., loss of imprinting (LOI) of LIT1. Similarly, 21 of 36 (58%) BWS patients showed loss of maternal allele-specific methylation of a CpG island upstream of LIT1. Surprisingly, LOI of LIT1 was not linked to LOI of insulin-like growth factor II (IGF2), which was found in 2 of 10 (20%) BWS patients, even though LOI of IGF2 occurs frequently in Wilms and other tumors, and in some patients with BWS. Thus, LOI of LIT1 is the most common genetic alteration in BWS. We propose that 11p15 harbors two imprinted gene domains-a more centromeric domain including KVLQT1 and p57(KIP2), alterations in which are more common in BWS, and a more telomeric domain including IGF2, alterations in which are more common in cancer." @default.
• W2034403814 created "2016-06-24" @default.
• W2034403814 creator A5004070167 @default.
• W2034403814 creator A5014877107 @default.
• W2034403814 creator A5035542628 @default.
• W2034403814 creator A5047418153 @default.
• W2034403814 creator A5049283637 @default.
• W2034403814 creator A5055646675 @default.
• W2034403814 creator A5073662157 @default.
• W2034403814 date "1999-04-27" @default.
• W2034403814 modified "2023-10-17" @default.
• W2034403814 title "Loss of imprinting of a paternally expressed transcript, with antisense orientation to K _V LQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprinting" @default.
• W2034403814 cites W124728194 @default.
• W2034403814 cites W1511027285 @default.
• W2034403814 cites W1523413307 @default.
• W2034403814 cites W1543422669 @default.
• W2034403814 cites W1572003867 @default.
• W2034403814 cites W1609534144 @default.
• W2034403814 cites W1658459147 @default.
• W2034403814 cites W1967588153 @default.
• W2034403814 cites W1994690011 @default.
• W2034403814 cites W1995574948 @default.
• W2034403814 cites W1997820996 @default.
• W2034403814 cites W2000134487 @default.
• W2034403814 cites W2014669590 @default.
• W2034403814 cites W2018574431 @default.
• W2034403814 cites W2020708296 @default.
• W2034403814 cites W2031123443 @default.
• W2034403814 cites W2035656617 @default.
• W2034403814 cites W2039597211 @default.
• W2034403814 cites W2044440071 @default.
• W2034403814 cites W2058614391 @default.
• W2034403814 cites W2088118447 @default.
• W2034403814 cites W2094697218 @default.
• W2034403814 cites W2107345366 @default.
• W2034403814 cites W2108408370 @default.
• W2034403814 cites W2115023351 @default.
• W2034403814 cites W2119889600 @default.
• W2034403814 cites W2121355008 @default.
• W2034403814 cites W2125811643 @default.
• W2034403814 cites W2136774624 @default.
• W2034403814 cites W2138565313 @default.
• W2034403814 cites W2147218892 @default.
• W2034403814 cites W2148915142 @default.
• W2034403814 cites W2168819459 @default.
• W2034403814 cites W2224929038 @default.
• W2034403814 cites W2291591520 @default.
• W2034403814 cites W2407342653 @default.
• W2034403814 cites W2576734941 @default.
• W2034403814 doi "https://doi.org/10.1073/pnas.96.9.5203" @default.
• W2034403814 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/21842" @default.
• W2034403814 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10220444" @default.
• W2034403814 hasPublicationYear "1999" @default.
• W2034403814 type Work @default.
• W2034403814 sameAs 2034403814 @default.
• W2034403814 citedByCount "351" @default.
• W2034403814 countsByYear W20344038142012 @default.
• W2034403814 countsByYear W20344038142013 @default.
• W2034403814 countsByYear W20344038142014 @default.
• W2034403814 countsByYear W20344038142015 @default.
• W2034403814 countsByYear W20344038142016 @default.
• W2034403814 countsByYear W20344038142017 @default.
• W2034403814 countsByYear W20344038142018 @default.
• W2034403814 countsByYear W20344038142019 @default.
• W2034403814 countsByYear W20344038142020 @default.
• W2034403814 countsByYear W20344038142021 @default.
• W2034403814 countsByYear W20344038142022 @default.
• W2034403814 countsByYear W20344038142023 @default.
• W2034403814 crossrefType "journal-article" @default.
• W2034403814 hasAuthorship W2034403814A5004070167 @default.
• W2034403814 hasAuthorship W2034403814A5014877107 @default.
• W2034403814 hasAuthorship W2034403814A5035542628 @default.
• W2034403814 hasAuthorship W2034403814A5047418153 @default.
• W2034403814 hasAuthorship W2034403814A5049283637 @default.
• W2034403814 hasAuthorship W2034403814A5055646675 @default.
• W2034403814 hasAuthorship W2034403814A5073662157 @default.
• W2034403814 hasBestOaLocation W20344038141 @default.
• W2034403814 hasConcept C104317684 @default.
• W2034403814 hasConcept C150194340 @default.
• W2034403814 hasConcept C180754005 @default.
• W2034403814 hasConcept C190727270 @default.
• W2034403814 hasConcept C201492766 @default.
• W2034403814 hasConcept C2775999222 @default.
• W2034403814 hasConcept C2777575177 @default.
• W2034403814 hasConcept C2779069268 @default.
• W2034403814 hasConcept C502942594 @default.
• W2034403814 hasConcept C54355233 @default.
• W2034403814 hasConcept C86803240 @default.
• W2034403814 hasConcept C94715292 @default.
• W2034403814 hasConceptScore W2034403814C104317684 @default.
• W2034403814 hasConceptScore W2034403814C150194340 @default.
• W2034403814 hasConceptScore W2034403814C180754005 @default.
• W2034403814 hasConceptScore W2034403814C190727270 @default.
• W2034403814 hasConceptScore W2034403814C201492766 @default.
• W2034403814 hasConceptScore W2034403814C2775999222 @default.
• W2034403814 hasConceptScore W2034403814C2777575177 @default.
• W2034403814 hasConceptScore W2034403814C2779069268 @default.
• W2034403814 hasConceptScore W2034403814C502942594 @default.

• next