FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2093865116> ?p ?o ?g. }

• W2093865116 endingPage "273" @default.
• W2093865116 startingPage "268" @default.
• W2093865116 abstract "Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximately 50% of familial cases being heterozygous for mutations in the receptor tyrosine kinase RET. Even when identified, the penetrance of RET mutations is only 50-70%, gender-dependent, and varies with the extent of aganglionosis. We searched for additional susceptibility genes which, in conjunction with RET, lead to phenotypic expression by studying 12 multiplex HSCR families. Haplotype analysis and extensive mutation screening demonstrated three types of families: six families harboring severe RET mutations (group I); and the six remaining families, five of which are RET-linked families with no sequence alterations and one RET-unlinked family (group II). Although the presence of RET mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families. As such, the gene at 9q31 is a modifier of HSCR penetrance. These observations imply that identification of new susceptibility factors in a complex disease may depend on classification of families by mutational type at known susceptibility genes." @default.
• W2093865116 created "2016-06-24" @default.
• W2093865116 creator A5002737264 @default.
• W2093865116 creator A5019879188 @default.
• W2093865116 creator A5021480821 @default.
• W2093865116 creator A5029343002 @default.
• W2093865116 creator A5039909670 @default.
• W2093865116 creator A5045427122 @default.
• W2093865116 creator A5062025177 @default.
• W2093865116 creator A5073552534 @default.
• W2093865116 creator A5088358026 @default.
• W2093865116 date "2000-01-04" @default.
• W2093865116 modified "2023-10-18" @default.
• W2093865116 title "A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus" @default.
• W2093865116 cites W112407545 @default.
• W2093865116 cites W119128643 @default.
• W2093865116 cites W1207662610 @default.
• W2093865116 cites W1461548044 @default.
• W2093865116 cites W1489135971 @default.
• W2093865116 cites W1511128892 @default.
• W2093865116 cites W1965265115 @default.
• W2093865116 cites W1971033887 @default.
• W2093865116 cites W1987606251 @default.
• W2093865116 cites W1999693507 @default.
• W2093865116 cites W2014078232 @default.
• W2093865116 cites W2016583288 @default.
• W2093865116 cites W2017593200 @default.
• W2093865116 cites W2018214833 @default.
• W2093865116 cites W2024058819 @default.
• W2093865116 cites W2025149315 @default.
• W2093865116 cites W2030996806 @default.
• W2093865116 cites W2036834043 @default.
• W2093865116 cites W2050963778 @default.
• W2093865116 cites W2062423918 @default.
• W2093865116 cites W2070889168 @default.
• W2093865116 cites W2075990052 @default.
• W2093865116 cites W2076151481 @default.
• W2093865116 cites W2080834130 @default.
• W2093865116 cites W2083248512 @default.
• W2093865116 cites W2087447340 @default.
• W2093865116 cites W2090159403 @default.
• W2093865116 cites W2093292107 @default.
• W2093865116 cites W2093669238 @default.
• W2093865116 cites W2107871825 @default.
• W2093865116 cites W2118781184 @default.
• W2093865116 cites W2134254169 @default.
• W2093865116 cites W2138650815 @default.
• W2093865116 cites W2139142070 @default.
• W2093865116 cites W2143051878 @default.
• W2093865116 cites W2151726301 @default.
• W2093865116 cites W2250023333 @default.
• W2093865116 cites W2426716536 @default.
• W2093865116 cites W4232251321 @default.
• W2093865116 cites W57595890 @default.
• W2093865116 cites W79816168 @default.
• W2093865116 doi "https://doi.org/10.1073/pnas.97.1.268" @default.
• W2093865116 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/26652" @default.
• W2093865116 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10618407" @default.
• W2093865116 hasPublicationYear "2000" @default.
• W2093865116 type Work @default.
• W2093865116 sameAs 2093865116 @default.
• W2093865116 citedByCount "192" @default.
• W2093865116 countsByYear W20938651162012 @default.
• W2093865116 countsByYear W20938651162013 @default.
• W2093865116 countsByYear W20938651162014 @default.
• W2093865116 countsByYear W20938651162015 @default.
• W2093865116 countsByYear W20938651162016 @default.
• W2093865116 countsByYear W20938651162018 @default.
• W2093865116 countsByYear W20938651162019 @default.
• W2093865116 countsByYear W20938651162020 @default.
• W2093865116 countsByYear W20938651162021 @default.
• W2093865116 countsByYear W20938651162022 @default.
• W2093865116 countsByYear W20938651162023 @default.
• W2093865116 crossrefType "journal-article" @default.
• W2093865116 hasAuthorship W2093865116A5002737264 @default.
• W2093865116 hasAuthorship W2093865116A5019879188 @default.
• W2093865116 hasAuthorship W2093865116A5021480821 @default.
• W2093865116 hasAuthorship W2093865116A5029343002 @default.
• W2093865116 hasAuthorship W2093865116A5039909670 @default.
• W2093865116 hasAuthorship W2093865116A5045427122 @default.
• W2093865116 hasAuthorship W2093865116A5062025177 @default.
• W2093865116 hasAuthorship W2093865116A5073552534 @default.
• W2093865116 hasAuthorship W2093865116A5088358026 @default.
• W2093865116 hasBestOaLocation W20938651161 @default.
• W2093865116 hasConcept C104317684 @default.
• W2093865116 hasConcept C127716648 @default.
• W2093865116 hasConcept C135763542 @default.
• W2093865116 hasConcept C160539049 @default.
• W2093865116 hasConcept C170493617 @default.
• W2093865116 hasConcept C185856081 @default.
• W2093865116 hasConcept C197754878 @default.
• W2093865116 hasConcept C200544954 @default.
• W2093865116 hasConcept C2908751931 @default.
• W2093865116 hasConcept C54355233 @default.
• W2093865116 hasConcept C64618202 @default.
• W2093865116 hasConcept C84597430 @default.
• W2093865116 hasConcept C86803240 @default.
• W2093865116 hasConceptScore W2093865116C104317684 @default.

• next