FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3115014013> ?p ?o ?g. }

• W3115014013 abstract "Abstract Background and Objectives: Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder characterized by renal inability to concentrate urine. Establishing the genetic diagnosis appears particularly important to NDI for early detection and differential diagnosis. Method: We utilized a Chinese multicenter registry to investigate genotype and phenotype in children with NDI from 2014 to 2019. The structural locations of the pathogenic mutations from this study and the literature, as well as population variants retried from gnomAD were analyzed. Results: A total of 10 boys from 9 families carried mutations in AVPR2 (8/10) or AQP2 (2/10). Another 7 relatives of the families were diagnosed by sequencing for partial or subclinical NDI. Patients presented with dehydration, polyuria-polydipsia, and severe hypernatremia with a median age at diagnosis of 1.0 month (IQR 0.16, 18). Protein structural analysis revealed a notable clustering of diagnostic mutations in the transmembrane regions of AVPR2, and enrichment of diagnostic mutations by autosomal dominant inheritance (AD) in the C terminal region of AQP2. The pathogenic mutations are significantly more likely to be buried inside the domain comparing the population variants. Through structural analysis and in silico prediction, the eight mutations identified in this study were considered as presumably disease causative. The most common treatments were thiazide diuretics and non-steroidal anti-inflammatory drugs (NSAIDs). Emergency treatment of hypernatremic dehydration in neonates should not choose the isotonic saline as a rehydration fluid. Conclusion: Genetic analysis presumably confirmed the diagnosis of NDI in every patient of the studied cohort. A plea of early identifying NDI confirmed by phenotype and genotype, and consequently optimize the treatment." @default.
• W3115014013 created "2021-01-05" @default.
• W3115014013 creator A5006415514 @default.
• W3115014013 creator A5014233085 @default.
• W3115014013 creator A5014652068 @default.
• W3115014013 creator A5015514709 @default.
• W3115014013 creator A5021298004 @default.
• W3115014013 creator A5025205269 @default.
• W3115014013 creator A5026678424 @default.
• W3115014013 creator A5031788773 @default.
• W3115014013 creator A5039232057 @default.
• W3115014013 creator A5040502320 @default.
• W3115014013 creator A5040881395 @default.
• W3115014013 creator A5041324566 @default.
• W3115014013 creator A5052150502 @default.
• W3115014013 creator A5053135423 @default.
• W3115014013 creator A5080203543 @default.
• W3115014013 creator A5082376779 @default.
• W3115014013 creator A5085441351 @default.
• W3115014013 creator A5088997186 @default.
• W3115014013 creator A5090859164 @default.
• W3115014013 date "2020-05-13" @default.
• W3115014013 modified "2023-10-11" @default.
• W3115014013 title "Integrating population variation and protein structural analysis to improve the clinical genetic diagnosis and treatment in children with congenital nephrogenic diabetes insipidus" @default.
• W3115014013 doi "https://doi.org/10.21203/rs.3.rs-28437/v1" @default.
• W3115014013 hasPublicationYear "2020" @default.
• W3115014013 type Work @default.
• W3115014013 sameAs 3115014013 @default.
• W3115014013 citedByCount "1" @default.
• W3115014013 countsByYear W31150140132021 @default.
• W3115014013 crossrefType "posted-content" @default.
• W3115014013 hasAuthorship W3115014013A5006415514 @default.
• W3115014013 hasAuthorship W3115014013A5014233085 @default.
• W3115014013 hasAuthorship W3115014013A5014652068 @default.
• W3115014013 hasAuthorship W3115014013A5015514709 @default.
• W3115014013 hasAuthorship W3115014013A5021298004 @default.
• W3115014013 hasAuthorship W3115014013A5025205269 @default.
• W3115014013 hasAuthorship W3115014013A5026678424 @default.
• W3115014013 hasAuthorship W3115014013A5031788773 @default.
• W3115014013 hasAuthorship W3115014013A5039232057 @default.
• W3115014013 hasAuthorship W3115014013A5040502320 @default.
• W3115014013 hasAuthorship W3115014013A5040881395 @default.
• W3115014013 hasAuthorship W3115014013A5041324566 @default.
• W3115014013 hasAuthorship W3115014013A5052150502 @default.
• W3115014013 hasAuthorship W3115014013A5053135423 @default.
• W3115014013 hasAuthorship W3115014013A5080203543 @default.
• W3115014013 hasAuthorship W3115014013A5082376779 @default.
• W3115014013 hasAuthorship W3115014013A5085441351 @default.
• W3115014013 hasAuthorship W3115014013A5088997186 @default.
• W3115014013 hasAuthorship W3115014013A5090859164 @default.
• W3115014013 hasBestOaLocation W31150140131 @default.
• W3115014013 hasConcept C104317684 @default.
• W3115014013 hasConcept C126322002 @default.
• W3115014013 hasConcept C127716648 @default.
• W3115014013 hasConcept C134018914 @default.
• W3115014013 hasConcept C16671776 @default.
• W3115014013 hasConcept C187212893 @default.
• W3115014013 hasConcept C2776958162 @default.
• W3115014013 hasConcept C2777464133 @default.
• W3115014013 hasConcept C2780180277 @default.
• W3115014013 hasConcept C2908647359 @default.
• W3115014013 hasConcept C501734568 @default.
• W3115014013 hasConcept C54355233 @default.
• W3115014013 hasConcept C555293320 @default.
• W3115014013 hasConcept C64618202 @default.
• W3115014013 hasConcept C71924100 @default.
• W3115014013 hasConcept C86803240 @default.
• W3115014013 hasConcept C99454951 @default.
• W3115014013 hasConceptScore W3115014013C104317684 @default.
• W3115014013 hasConceptScore W3115014013C126322002 @default.
• W3115014013 hasConceptScore W3115014013C127716648 @default.
• W3115014013 hasConceptScore W3115014013C134018914 @default.
• W3115014013 hasConceptScore W3115014013C16671776 @default.
• W3115014013 hasConceptScore W3115014013C187212893 @default.
• W3115014013 hasConceptScore W3115014013C2776958162 @default.
• W3115014013 hasConceptScore W3115014013C2777464133 @default.
• W3115014013 hasConceptScore W3115014013C2780180277 @default.
• W3115014013 hasConceptScore W3115014013C2908647359 @default.
• W3115014013 hasConceptScore W3115014013C501734568 @default.
• W3115014013 hasConceptScore W3115014013C54355233 @default.
• W3115014013 hasConceptScore W3115014013C555293320 @default.
• W3115014013 hasConceptScore W3115014013C64618202 @default.
• W3115014013 hasConceptScore W3115014013C71924100 @default.
• W3115014013 hasConceptScore W3115014013C86803240 @default.
• W3115014013 hasConceptScore W3115014013C99454951 @default.
• W3115014013 hasLocation W31150140131 @default.
• W3115014013 hasOpenAccess W3115014013 @default.
• W3115014013 hasPrimaryLocation W31150140131 @default.
• W3115014013 hasRelatedWork W1979201629 @default.
• W3115014013 hasRelatedWork W2012210645 @default.
• W3115014013 hasRelatedWork W2070603957 @default.
• W3115014013 hasRelatedWork W2249377240 @default.
• W3115014013 hasRelatedWork W2466523479 @default.
• W3115014013 hasRelatedWork W2594493285 @default.
• W3115014013 hasRelatedWork W2896030830 @default.
• W3115014013 hasRelatedWork W3004045310 @default.
• W3115014013 hasRelatedWork W4223591108 @default.
• W3115014013 hasRelatedWork W4244358552 @default.
• W3115014013 isParatext "false" @default.
• W3115014013 isRetracted "false" @default.

• next