FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2108292844> ?p ?o ?g. }

• W2108292844 endingPage "757" @default.
• W2108292844 startingPage "749" @default.
• W2108292844 abstract "Haploinsufficiency of the human 5q35 region spanning the NSD1 gene results in a rare genomic disorder known as Sotos syndrome (Sotos), with patients displaying a variety of clinical features, including pre- and postnatal overgrowth, intellectual disability, and urinary/renal abnormalities. We used chromosome engineering to generate a segmental monosomy, i.e., mice carrying a heterozygous 1.5-Mb deletion of 36 genes on mouse chromosome 13 (4732471D19Rik-B4galt7), syntenic with 5q35.2-q35.3 in humans (Df(13)Ms2Dja ( +/- ) mice). Surprisingly Df(13)Ms2Dja ( +/- ) mice were significantly smaller for their gestational age and also showed decreased postnatal growth, in contrast to Sotos patients. Df(13)Ms2Dja ( +/- ) mice did, however, display deficits in long-term memory retention and dilation of the pelvicalyceal system, which in part may model the learning difficulties and renal abnormalities observed in Sotos patients. Thus, haploinsufficiency of genes within the mouse 4732471D19Rik-B4galt7 deletion interval play important roles in growth, memory retention, and the development of the renal pelvicalyceal system." @default.
• W2108292844 created "2016-06-24" @default.
• W2108292844 creator A5000612576 @default.
• W2108292844 creator A5013599788 @default.
• W2108292844 creator A5015836695 @default.
• W2108292844 creator A5019378167 @default.
• W2108292844 creator A5021154491 @default.
• W2108292844 creator A5025386235 @default.
• W2108292844 creator A5026581291 @default.
• W2108292844 creator A5031857573 @default.
• W2108292844 creator A5034980545 @default.
• W2108292844 creator A5049460481 @default.
• W2108292844 creator A5054909920 @default.
• W2108292844 date "2012-08-29" @default.
• W2108292844 modified "2023-09-26" @default.
• W2108292844 title "Generation of the Sotos syndrome deletion in mice" @default.
• W2108292844 cites W1583993469 @default.
• W2108292844 cites W1981149320 @default.
• W2108292844 cites W1989515095 @default.
• W2108292844 cites W2005191830 @default.
• W2108292844 cites W2009614596 @default.
• W2108292844 cites W2025176554 @default.
• W2108292844 cites W2025331244 @default.
• W2108292844 cites W2035284156 @default.
• W2108292844 cites W2039310309 @default.
• W2108292844 cites W2045747587 @default.
• W2108292844 cites W2048994773 @default.
• W2108292844 cites W2053357238 @default.
• W2108292844 cites W2057647981 @default.
• W2108292844 cites W2065208123 @default.
• W2108292844 cites W2069852012 @default.
• W2108292844 cites W2077275541 @default.
• W2108292844 cites W2079175475 @default.
• W2108292844 cites W2091605994 @default.
• W2108292844 cites W2092400388 @default.
• W2108292844 cites W2115328346 @default.
• W2108292844 cites W2117902955 @default.
• W2108292844 cites W2124908019 @default.
• W2108292844 cites W2142748613 @default.
• W2108292844 cites W2148169908 @default.
• W2108292844 cites W2171409838 @default.
• W2108292844 cites W4210523709 @default.
• W2108292844 doi "https://doi.org/10.1007/s00335-012-9416-0" @default.
• W2108292844 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3510424" @default.
• W2108292844 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22926222" @default.
• W2108292844 hasPublicationYear "2012" @default.
• W2108292844 type Work @default.
• W2108292844 sameAs 2108292844 @default.
• W2108292844 citedByCount "12" @default.
• W2108292844 countsByYear W21082928442013 @default.
• W2108292844 countsByYear W21082928442014 @default.
• W2108292844 countsByYear W21082928442015 @default.
• W2108292844 countsByYear W21082928442017 @default.
• W2108292844 countsByYear W21082928442021 @default.
• W2108292844 countsByYear W21082928442023 @default.
• W2108292844 crossrefType "journal-article" @default.
• W2108292844 hasAuthorship W2108292844A5000612576 @default.
• W2108292844 hasAuthorship W2108292844A5013599788 @default.
• W2108292844 hasAuthorship W2108292844A5015836695 @default.
• W2108292844 hasAuthorship W2108292844A5019378167 @default.
• W2108292844 hasAuthorship W2108292844A5021154491 @default.
• W2108292844 hasAuthorship W2108292844A5025386235 @default.
• W2108292844 hasAuthorship W2108292844A5026581291 @default.
• W2108292844 hasAuthorship W2108292844A5031857573 @default.
• W2108292844 hasAuthorship W2108292844A5034980545 @default.
• W2108292844 hasAuthorship W2108292844A5049460481 @default.
• W2108292844 hasAuthorship W2108292844A5054909920 @default.
• W2108292844 hasBestOaLocation W21082928441 @default.
• W2108292844 hasConcept C104317684 @default.
• W2108292844 hasConcept C109748351 @default.
• W2108292844 hasConcept C127716648 @default.
• W2108292844 hasConcept C2779142324 @default.
• W2108292844 hasConcept C2780502008 @default.
• W2108292844 hasConcept C30481170 @default.
• W2108292844 hasConcept C53226629 @default.
• W2108292844 hasConcept C54355233 @default.
• W2108292844 hasConcept C68838962 @default.
• W2108292844 hasConcept C86803240 @default.
• W2108292844 hasConceptScore W2108292844C104317684 @default.
• W2108292844 hasConceptScore W2108292844C109748351 @default.
• W2108292844 hasConceptScore W2108292844C127716648 @default.
• W2108292844 hasConceptScore W2108292844C2779142324 @default.
• W2108292844 hasConceptScore W2108292844C2780502008 @default.
• W2108292844 hasConceptScore W2108292844C30481170 @default.
• W2108292844 hasConceptScore W2108292844C53226629 @default.
• W2108292844 hasConceptScore W2108292844C54355233 @default.
• W2108292844 hasConceptScore W2108292844C68838962 @default.
• W2108292844 hasConceptScore W2108292844C86803240 @default.
• W2108292844 hasIssue "11-12" @default.
• W2108292844 hasLocation W21082928441 @default.
• W2108292844 hasLocation W21082928442 @default.
• W2108292844 hasLocation W21082928443 @default.
• W2108292844 hasLocation W21082928444 @default.
• W2108292844 hasLocation W21082928445 @default.
• W2108292844 hasOpenAccess W2108292844 @default.
• W2108292844 hasPrimaryLocation W21082928441 @default.
• W2108292844 hasRelatedWork W1970677227 @default.
• W2108292844 hasRelatedWork W2031436818 @default.

• next