FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4296688302> ?p ?o ?g. }

• W4296688302 endingPage "1083" @default.
• W4296688302 startingPage "1079" @default.
• W4296688302 abstract "Alterations in genes specifically expressed in the pancreas have been associated with chronic pancreatitis (CP). A significant percentage of patients with non-alcoholic CP, however, do not have mutations in known risk genes, suggesting the existence of further susceptibility genes. Four aquaporins are expressed in the exocrine pancreas: AQP1, AQP5, AQP8 and AQP12, the latter being found exclusively in this organ. Therefore, we investigated the two AQP12 genes, AQP12A and AQP12B, in CP patients.We analyzed all exons and adjacent intronic regions of AQP12A and AQP12B in 292 German patients with non-alcoholic CP and 143 control subjects by direct DNA sequencing.In total, we discovered 41 non-synonymous changes, three of which were nonsense variants. Genotype and allele frequencies of these variants did not differ significantly between patients and controls (all p-values >0.05). Remarkably, we found a common nonsense variant in AQP12B, p.S152Tfs∗24, with an allele frequency of 15.7% in controls, including 2.8% homozygous subjects. This finding suggests that AQP12B is physiologically dispensable for normal pancreatic function.Our results suggest that genetic alterations in AQP12A and AQP12B do not predispose to the development of non-alcoholic CP." @default.
• W4296688302 created "2022-09-23" @default.
• W4296688302 creator A5008402949 @default.
• W4296688302 creator A5024609763 @default.
• W4296688302 creator A5034333578 @default.
• W4296688302 creator A5037348579 @default.
• W4296688302 creator A5079986408 @default.
• W4296688302 date "2022-12-01" @default.
• W4296688302 modified "2023-10-18" @default.
• W4296688302 title "Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis" @default.
• W4296688302 cites W1506193493 @default.
• W4296688302 cites W1563800735 @default.
• W4296688302 cites W1986883687 @default.
• W4296688302 cites W1993211081 @default.
• W4296688302 cites W1995613009 @default.
• W4296688302 cites W1997718215 @default.
• W4296688302 cites W2003115684 @default.
• W4296688302 cites W2009411635 @default.
• W4296688302 cites W2009643921 @default.
• W4296688302 cites W2012034410 @default.
• W4296688302 cites W2024366232 @default.
• W4296688302 cites W2052922251 @default.
• W4296688302 cites W2083214486 @default.
• W4296688302 cites W2084179773 @default.
• W4296688302 cites W2087588809 @default.
• W4296688302 cites W2094438605 @default.
• W4296688302 cites W2096526128 @default.
• W4296688302 cites W2113193681 @default.
• W4296688302 cites W2123416020 @default.
• W4296688302 cites W2125385355 @default.
• W4296688302 cites W2166336576 @default.
• W4296688302 cites W2330410882 @default.
• W4296688302 cites W2344936853 @default.
• W4296688302 cites W2741999340 @default.
• W4296688302 cites W2806391800 @default.
• W4296688302 cites W2808024354 @default.
• W4296688302 cites W2916149709 @default.
• W4296688302 cites W2999710016 @default.
• W4296688302 cites W3107322429 @default.
• W4296688302 cites W4225281550 @default.
• W4296688302 cites W4283315664 @default.
• W4296688302 doi "https://doi.org/10.1016/j.pan.2022.09.240" @default.
• W4296688302 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36167651" @default.
• W4296688302 hasPublicationYear "2022" @default.
• W4296688302 type Work @default.
• W4296688302 citedByCount "1" @default.
• W4296688302 countsByYear W42966883022023 @default.
• W4296688302 crossrefType "journal-article" @default.
• W4296688302 hasAuthorship W4296688302A5008402949 @default.
• W4296688302 hasAuthorship W4296688302A5024609763 @default.
• W4296688302 hasAuthorship W4296688302A5034333578 @default.
• W4296688302 hasAuthorship W4296688302A5037348579 @default.
• W4296688302 hasAuthorship W4296688302A5079986408 @default.
• W4296688302 hasConcept C104317684 @default.
• W4296688302 hasConcept C126322002 @default.
• W4296688302 hasConcept C134018914 @default.
• W4296688302 hasConcept C135763542 @default.
• W4296688302 hasConcept C180754005 @default.
• W4296688302 hasConcept C2775967933 @default.
• W4296688302 hasConcept C2778764654 @default.
• W4296688302 hasConcept C36823959 @default.
• W4296688302 hasConcept C501734568 @default.
• W4296688302 hasConcept C54355233 @default.
• W4296688302 hasConcept C62923972 @default.
• W4296688302 hasConcept C71924100 @default.
• W4296688302 hasConcept C75563809 @default.
• W4296688302 hasConcept C86803240 @default.
• W4296688302 hasConcept C96777560 @default.
• W4296688302 hasConceptScore W4296688302C104317684 @default.
• W4296688302 hasConceptScore W4296688302C126322002 @default.
• W4296688302 hasConceptScore W4296688302C134018914 @default.
• W4296688302 hasConceptScore W4296688302C135763542 @default.
• W4296688302 hasConceptScore W4296688302C180754005 @default.
• W4296688302 hasConceptScore W4296688302C2775967933 @default.
• W4296688302 hasConceptScore W4296688302C2778764654 @default.
• W4296688302 hasConceptScore W4296688302C36823959 @default.
• W4296688302 hasConceptScore W4296688302C501734568 @default.
• W4296688302 hasConceptScore W4296688302C54355233 @default.
• W4296688302 hasConceptScore W4296688302C62923972 @default.
• W4296688302 hasConceptScore W4296688302C71924100 @default.
• W4296688302 hasConceptScore W4296688302C75563809 @default.
• W4296688302 hasConceptScore W4296688302C86803240 @default.
• W4296688302 hasConceptScore W4296688302C96777560 @default.
• W4296688302 hasFunder F4320320879 @default.
• W4296688302 hasFunder F4320321672 @default.
• W4296688302 hasIssue "8" @default.
• W4296688302 hasLocation W42966883021 @default.
• W4296688302 hasLocation W42966883022 @default.
• W4296688302 hasOpenAccess W4296688302 @default.
• W4296688302 hasPrimaryLocation W42966883021 @default.
• W4296688302 hasRelatedWork W2048766720 @default.
• W4296688302 hasRelatedWork W2053284565 @default.
• W4296688302 hasRelatedWork W2065184584 @default.
• W4296688302 hasRelatedWork W2065688029 @default.
• W4296688302 hasRelatedWork W2068932327 @default.
• W4296688302 hasRelatedWork W2078329500 @default.
• W4296688302 hasRelatedWork W2143381541 @default.
• W4296688302 hasRelatedWork W2161727972 @default.

• next