FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1517532080> ?p ?o ?g. }

• W1517532080 endingPage "87" @default.
• W1517532080 startingPage "84" @default.
• W1517532080 abstract "Recombination between repeated sequences at various loci of the human genome are known to give rise to DNA rearrangements associated with many genetic disorders. Perhaps the most extensively characterized genomic region prone to rearrangement is 17p12, which is associated with the peripheral neuropathies, hereditary neuropathy with liability to pressure palsies (HNPP) and Charcot-Marie-Tooth disease type 1A (CMT1A;ref. 2). Homologous recombination between 24-kb flanking repeats, termed CMT1A-REPs, results in a 1.5-Mb deletion that is associated with HNPP, and the reciprocal duplication product is associated with CMT1A (ref. 2). Smith-Magenis syndrome (SMS) is a multiple congenital anomalies, mental retardation syndrome associated with a chromosome 17 microdeletion, del(17)(p11.2p11.2) (ref. 3,4). Most patients (>90%) carry deletions of the same genetic markers and define a common deletion. We report seven unrelated patients with de novo duplications of the same region deleted in SMS. A unique junction fragment, of the same apparent size, was identified in each patient by pulsed field gel electrophoresis (PFGE). Further molecular analyses suggest that the de novo17p11.2 duplication is preferentially paternal in origin, arises from unequal crossing over due to homologous recombination between flanking repeat gene clusters and probably represents the reciprocal recombination product of the SMS deletion. The clinical phenotype resulting from duplication [dup(17)(p11.2p11.2)] is milder than that associated with deficiency of this genomic region. This mechanism of reciprocal deletion and duplication via homologous recombination may not only pertain to the 17p11.2 region, but may also be common to other regions of the genome where interstitial microdeletion syndromes have been defined." @default.
• W1517532080 created "2016-06-24" @default.
• W1517532080 creator A5000612576 @default.
• W1517532080 creator A5009637115 @default.
• W1517532080 creator A5030903579 @default.
• W1517532080 creator A5031011585 @default.
• W1517532080 creator A5032719767 @default.
• W1517532080 creator A5039960843 @default.
• W1517532080 creator A5047115657 @default.
• W1517532080 creator A5054611483 @default.
• W1517532080 creator A5070769975 @default.
• W1517532080 creator A5074115724 @default.
• W1517532080 creator A5079386874 @default.
• W1517532080 creator A5086977364 @default.
• W1517532080 date "2000-01-01" @default.
• W1517532080 modified "2023-10-18" @default.
• W1517532080 title "Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion" @default.
• W1517532080 cites W1965007620 @default.
• W1517532080 cites W1972543680 @default.
• W1517532080 cites W1973457937 @default.
• W1517532080 cites W1974312684 @default.
• W1517532080 cites W1983430515 @default.
• W1517532080 cites W1989030221 @default.
• W1517532080 cites W1991206817 @default.
• W1517532080 cites W1994701522 @default.
• W1517532080 cites W1996154950 @default.
• W1517532080 cites W1997647094 @default.
• W1517532080 cites W1998153605 @default.
• W1517532080 cites W2015222390 @default.
• W1517532080 cites W2015339639 @default.
• W1517532080 cites W2029965540 @default.
• W1517532080 cites W2064022931 @default.
• W1517532080 cites W2083627011 @default.
• W1517532080 cites W2085256863 @default.
• W1517532080 cites W2097154822 @default.
• W1517532080 cites W2115645850 @default.
• W1517532080 cites W2130680376 @default.
• W1517532080 cites W2165554230 @default.
• W1517532080 cites W2168854455 @default.
• W1517532080 doi "https://doi.org/10.1038/71743" @default.
• W1517532080 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10615134" @default.
• W1517532080 hasPublicationYear "2000" @default.
• W1517532080 type Work @default.
• W1517532080 sameAs 1517532080 @default.
• W1517532080 citedByCount "311" @default.
• W1517532080 countsByYear W15175320802012 @default.
• W1517532080 countsByYear W15175320802013 @default.
• W1517532080 countsByYear W15175320802014 @default.
• W1517532080 countsByYear W15175320802015 @default.
• W1517532080 countsByYear W15175320802016 @default.
• W1517532080 countsByYear W15175320802017 @default.
• W1517532080 countsByYear W15175320802018 @default.
• W1517532080 countsByYear W15175320802019 @default.
• W1517532080 countsByYear W15175320802020 @default.
• W1517532080 countsByYear W15175320802021 @default.
• W1517532080 countsByYear W15175320802022 @default.
• W1517532080 countsByYear W15175320802023 @default.
• W1517532080 crossrefType "journal-article" @default.
• W1517532080 hasAuthorship W1517532080A5000612576 @default.
• W1517532080 hasAuthorship W1517532080A5009637115 @default.
• W1517532080 hasAuthorship W1517532080A5030903579 @default.
• W1517532080 hasAuthorship W1517532080A5031011585 @default.
• W1517532080 hasAuthorship W1517532080A5032719767 @default.
• W1517532080 hasAuthorship W1517532080A5039960843 @default.
• W1517532080 hasAuthorship W1517532080A5047115657 @default.
• W1517532080 hasAuthorship W1517532080A5054611483 @default.
• W1517532080 hasAuthorship W1517532080A5070769975 @default.
• W1517532080 hasAuthorship W1517532080A5074115724 @default.
• W1517532080 hasAuthorship W1517532080A5079386874 @default.
• W1517532080 hasAuthorship W1517532080A5086977364 @default.
• W1517532080 hasBestOaLocation W15175320802 @default.
• W1517532080 hasConcept C101434241 @default.
• W1517532080 hasConcept C102744134 @default.
• W1517532080 hasConcept C104317684 @default.
• W1517532080 hasConcept C156446351 @default.
• W1517532080 hasConcept C156695909 @default.
• W1517532080 hasConcept C165984737 @default.
• W1517532080 hasConcept C2992511266 @default.
• W1517532080 hasConcept C30481170 @default.
• W1517532080 hasConcept C50919411 @default.
• W1517532080 hasConcept C53226629 @default.
• W1517532080 hasConcept C54355233 @default.
• W1517532080 hasConcept C64894306 @default.
• W1517532080 hasConcept C7602840 @default.
• W1517532080 hasConcept C82040048 @default.
• W1517532080 hasConcept C86803240 @default.
• W1517532080 hasConceptScore W1517532080C101434241 @default.
• W1517532080 hasConceptScore W1517532080C102744134 @default.
• W1517532080 hasConceptScore W1517532080C104317684 @default.
• W1517532080 hasConceptScore W1517532080C156446351 @default.
• W1517532080 hasConceptScore W1517532080C156695909 @default.
• W1517532080 hasConceptScore W1517532080C165984737 @default.
• W1517532080 hasConceptScore W1517532080C2992511266 @default.
• W1517532080 hasConceptScore W1517532080C30481170 @default.
• W1517532080 hasConceptScore W1517532080C50919411 @default.
• W1517532080 hasConceptScore W1517532080C53226629 @default.
• W1517532080 hasConceptScore W1517532080C54355233 @default.
• W1517532080 hasConceptScore W1517532080C64894306 @default.

• next