FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313365110> ?p ?o ?g. }

• W4313365110 endingPage "e003038" @default.
• W4313365110 startingPage "e003038" @default.
• W4313365110 abstract "The aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes.It is a continuation of the project Genetic diabetes in Lithuania with the cohort of 1209 patients with diabetes. Prior screening for autoimmune markers confirmed type 1 diabetes (T1D) diagnosis in 88.1% (n=1065) of patients, and targeted next-generation sequencing identified 3.5% (n=42) pathogenic variants in MODY genes. Subsequently, 102 patients were classified as having diabetes of unknown etiology. 12/102 were found to have novel variants in potential diabetes genes (RFX2, RREB1, SLC5A1 (3 patients with variants in this gene), GCKR, MC4R, CASP10, TMPRSS6, HGFAC, DACH1, ZBED3). Co-segregation analysis and MMTT were carried out in order to study beta-cell function in subjects with specific variants.MMTT analysis showed that probands with variants in MC4R, CASP10, TMPRSS6, HGFAC, and SLC5A1 (c.1415T>C) had sufficient residual beta-cell function with stimulated C-peptide (CP) >200 pmol/L. Seven individuals with variants in RFX2, RREB1, GCKR, DACH1, ZBED3 and SLC5A1 (c.1415T>C, and c.932A>T) presented with complete beta-cell failure. No statistical differences were found between patients with sufficient CP production and those with complete beta-cell failure when comparing age at the onset and duration of diabetes. Nineteen family members were included in co-segregation analysis; no diabetes cases were reported among them. Only in patient with the variant c.1894G>A in RFX2 gene, none of the family members were affected by proband's variant.Functional beta-cell study in vivo allowed to select five most probable genes for monogenic diabetes. Familial co-segregation analysis showed that novel variant in RFX2 gene could be a possible cause of diabetes. Future functional analysis in vitro is necessary to support or rule out the genetic background as a cause of diabetes." @default.
• W4313365110 created "2023-01-06" @default.
• W4313365110 creator A5018787256 @default.
• W4313365110 creator A5046363205 @default.
• W4313365110 creator A5060773106 @default.
• W4313365110 creator A5063093429 @default.
• W4313365110 creator A5085685643 @default.
• W4313365110 date "2022-12-01" @default.
• W4313365110 modified "2023-09-30" @default.
• W4313365110 title "Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes" @default.
• W4313365110 cites W1968111391 @default.
• W4313365110 cites W2011488645 @default.
• W4313365110 cites W2041652022 @default.
• W4313365110 cites W2049583719 @default.
• W4313365110 cites W2051978340 @default.
• W4313365110 cites W2117096066 @default.
• W4313365110 cites W2121351699 @default.
• W4313365110 cites W2129482953 @default.
• W4313365110 cites W2170019319 @default.
• W4313365110 cites W2200741680 @default.
• W4313365110 cites W2300577127 @default.
• W4313365110 cites W2555341966 @default.
• W4313365110 cites W2612062408 @default.
• W4313365110 cites W2612702080 @default.
• W4313365110 cites W2619003201 @default.
• W4313365110 cites W2773841864 @default.
• W4313365110 cites W2790349655 @default.
• W4313365110 cites W2898959782 @default.
• W4313365110 cites W2924757145 @default.
• W4313365110 cites W2969656763 @default.
• W4313365110 cites W2970497574 @default.
• W4313365110 cites W3007568684 @default.
• W4313365110 cites W3013062548 @default.
• W4313365110 cites W3033210115 @default.
• W4313365110 cites W3048059776 @default.
• W4313365110 cites W3048336976 @default.
• W4313365110 cites W3092620361 @default.
• W4313365110 cites W3157498499 @default.
• W4313365110 cites W3160918054 @default.
• W4313365110 cites W3179856954 @default.
• W4313365110 cites W3186014432 @default.
• W4313365110 cites W3200299293 @default.
• W4313365110 cites W3216747863 @default.
• W4313365110 cites W4200192648 @default.
• W4313365110 cites W4200454061 @default.
• W4313365110 doi "https://doi.org/10.1136/bmjdrc-2022-003038" @default.
• W4313365110 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36585034" @default.
• W4313365110 hasPublicationYear "2022" @default.
• W4313365110 type Work @default.
• W4313365110 citedByCount "1" @default.
• W4313365110 countsByYear W43133651102023 @default.
• W4313365110 crossrefType "journal-article" @default.
• W4313365110 hasAuthorship W4313365110A5018787256 @default.
• W4313365110 hasAuthorship W4313365110A5046363205 @default.
• W4313365110 hasAuthorship W4313365110A5060773106 @default.
• W4313365110 hasAuthorship W4313365110A5063093429 @default.
• W4313365110 hasAuthorship W4313365110A5085685643 @default.
• W4313365110 hasBestOaLocation W43133651101 @default.
• W4313365110 hasConcept C104317684 @default.
• W4313365110 hasConcept C126322002 @default.
• W4313365110 hasConcept C134018914 @default.
• W4313365110 hasConcept C188997412 @default.
• W4313365110 hasConcept C2777180221 @default.
• W4313365110 hasConcept C501734568 @default.
• W4313365110 hasConcept C54355233 @default.
• W4313365110 hasConcept C555293320 @default.
• W4313365110 hasConcept C60644358 @default.
• W4313365110 hasConcept C69991583 @default.
• W4313365110 hasConcept C71924100 @default.
• W4313365110 hasConcept C86803240 @default.
• W4313365110 hasConceptScore W4313365110C104317684 @default.
• W4313365110 hasConceptScore W4313365110C126322002 @default.
• W4313365110 hasConceptScore W4313365110C134018914 @default.
• W4313365110 hasConceptScore W4313365110C188997412 @default.
• W4313365110 hasConceptScore W4313365110C2777180221 @default.
• W4313365110 hasConceptScore W4313365110C501734568 @default.
• W4313365110 hasConceptScore W4313365110C54355233 @default.
• W4313365110 hasConceptScore W4313365110C555293320 @default.
• W4313365110 hasConceptScore W4313365110C60644358 @default.
• W4313365110 hasConceptScore W4313365110C69991583 @default.
• W4313365110 hasConceptScore W4313365110C71924100 @default.
• W4313365110 hasConceptScore W4313365110C86803240 @default.
• W4313365110 hasFunder F4320320924 @default.
• W4313365110 hasIssue "6" @default.
• W4313365110 hasLocation W43133651101 @default.
• W4313365110 hasLocation W43133651102 @default.
• W4313365110 hasLocation W43133651103 @default.
• W4313365110 hasOpenAccess W4313365110 @default.
• W4313365110 hasPrimaryLocation W43133651101 @default.
• W4313365110 hasRelatedWork W1516251615 @default.
• W4313365110 hasRelatedWork W2029056863 @default.
• W4313365110 hasRelatedWork W2078815200 @default.
• W4313365110 hasRelatedWork W2238303501 @default.
• W4313365110 hasRelatedWork W2275577754 @default.
• W4313365110 hasRelatedWork W2385813177 @default.
• W4313365110 hasRelatedWork W2954044368 @default.
• W4313365110 hasRelatedWork W4210636898 @default.
• W4313365110 hasRelatedWork W1592611938 @default.

• next