FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200480910> ?p ?o ?g. }

• W4200480910 abstract "Background: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease that is caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2). Functional analysis of the mutated receptor is necessary to verify the impact of the mutation on receptor function and suggest some possible therapeutic strategies for specific functional defects. Methods: Family history and clinical information were collected. Whole-exome sequencing and sanger sequencing were performed to determine the potential genetic cause of diabetes insipidus. The identified variant was classified according to the American College of Medical Genetics (ACMG) criteria. Bioinformatic analysis was performed to predict the function of the identified variation. Moreover, wild-type and mutated AVPR2 vectors were constructed and transfection to HEK-293T cells. Immunofluorescence experiments were performed to investigate the expression and localization of the mutated protein and cAMP parameter assays were used to measure its activity in response to AVP. Results: The heights of the adult members affected with polyuria and polydipsia were normal, but all affected children had growth retardation. Next-generation sequencing identified a novel mutation in AVPR2 gene (c.530T > A) in this family. Bioinformatic analysis indicated that the mutation in AVPR2 changed the hydropathic characteristic of the protein and was probably deleterious. Although immunofluorescence showed that the mutated AVPR2 was normally expressed in the cell surface, the intracellular cAMP concentration stimulated by AVP was significantly lower in cells transfected with mutated AVPR2 than cells transfected with wild-type AVPR2. Based on the ACMG criteria, the novel c.530T > A variant of the AVPR2 gene was likely pathogenic and the affected family members were diagnosed as CNDI. After the confirmation of the diagnosis, the proband was treated with compound amiloride hydrochloride and rhGH, the symptoms of polyuria, polydipsia and growth retardation were all improved. Conclusion: These findings suggested that the novel mutation in AVPR2 (c.530T > A) was a true disease-causing variant with mild effects, which could be classified as a type III mutant receptor. Moreover, investigations of the function of growth hormone axis could be important for the pediatric CNDI patients with extreme short stature, and rhGH treatment might improve the final adult heights in these patients." @default.
• W4200480910 created "2021-12-31" @default.
• W4200480910 creator A5020240675 @default.
• W4200480910 creator A5020401847 @default.
• W4200480910 creator A5029085127 @default.
• W4200480910 creator A5053063428 @default.
• W4200480910 creator A5053195913 @default.
• W4200480910 creator A5060613971 @default.
• W4200480910 creator A5089639451 @default.
• W4200480910 date "2021-12-09" @default.
• W4200480910 modified "2023-10-13" @default.
• W4200480910 title "Clinical and Functional Characterization of a Novel Mutation in AVPR2 Causing Nephrogenic Diabetes Insipidus in a Four-Generation Chinese Family" @default.
• W4200480910 cites W1520583559 @default.
• W4200480910 cites W1997899268 @default.
• W4200480910 cites W2002882631 @default.
• W4200480910 cites W2013989605 @default.
• W4200480910 cites W2051978340 @default.
• W4200480910 cites W2066415434 @default.
• W4200480910 cites W2101250526 @default.
• W4200480910 cites W2107814524 @default.
• W4200480910 cites W2134056604 @default.
• W4200480910 cites W2140057203 @default.
• W4200480910 cites W2157907012 @default.
• W4200480910 cites W2158265710 @default.
• W4200480910 cites W2163925796 @default.
• W4200480910 cites W2165494030 @default.
• W4200480910 cites W2201756748 @default.
• W4200480910 cites W2285121673 @default.
• W4200480910 cites W2290376619 @default.
• W4200480910 cites W2767333788 @default.
• W4200480910 cites W2767522606 @default.
• W4200480910 cites W2788136508 @default.
• W4200480910 cites W2792630199 @default.
• W4200480910 cites W3004411761 @default.
• W4200480910 cites W3009111487 @default.
• W4200480910 cites W3036814505 @default.
• W4200480910 cites W3116386248 @default.
• W4200480910 cites W3136631435 @default.
• W4200480910 cites W4235736168 @default.
• W4200480910 doi "https://doi.org/10.3389/fped.2021.790194" @default.
• W4200480910 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34956990" @default.
• W4200480910 hasPublicationYear "2021" @default.
• W4200480910 type Work @default.
• W4200480910 citedByCount "3" @default.
• W4200480910 countsByYear W42004809102022 @default.
• W4200480910 countsByYear W42004809102023 @default.
• W4200480910 crossrefType "journal-article" @default.
• W4200480910 hasAuthorship W4200480910A5020240675 @default.
• W4200480910 hasAuthorship W4200480910A5020401847 @default.
• W4200480910 hasAuthorship W4200480910A5029085127 @default.
• W4200480910 hasAuthorship W4200480910A5053063428 @default.
• W4200480910 hasAuthorship W4200480910A5053195913 @default.
• W4200480910 hasAuthorship W4200480910A5060613971 @default.
• W4200480910 hasAuthorship W4200480910A5089639451 @default.
• W4200480910 hasBestOaLocation W42004809101 @default.
• W4200480910 hasConcept C104317684 @default.
• W4200480910 hasConcept C126322002 @default.
• W4200480910 hasConcept C127413603 @default.
• W4200480910 hasConcept C170493617 @default.
• W4200480910 hasConcept C174510640 @default.
• W4200480910 hasConcept C201289731 @default.
• W4200480910 hasConcept C20352681 @default.
• W4200480910 hasConcept C2775845273 @default.
• W4200480910 hasConcept C2776370428 @default.
• W4200480910 hasConcept C2776885963 @default.
• W4200480910 hasConcept C2777464133 @default.
• W4200480910 hasConcept C501734568 @default.
• W4200480910 hasConcept C54009773 @default.
• W4200480910 hasConcept C54355233 @default.
• W4200480910 hasConcept C71924100 @default.
• W4200480910 hasConcept C76818968 @default.
• W4200480910 hasConcept C78519656 @default.
• W4200480910 hasConcept C85562759 @default.
• W4200480910 hasConcept C86803240 @default.
• W4200480910 hasConceptScore W4200480910C104317684 @default.
• W4200480910 hasConceptScore W4200480910C126322002 @default.
• W4200480910 hasConceptScore W4200480910C127413603 @default.
• W4200480910 hasConceptScore W4200480910C170493617 @default.
• W4200480910 hasConceptScore W4200480910C174510640 @default.
• W4200480910 hasConceptScore W4200480910C201289731 @default.
• W4200480910 hasConceptScore W4200480910C20352681 @default.
• W4200480910 hasConceptScore W4200480910C2775845273 @default.
• W4200480910 hasConceptScore W4200480910C2776370428 @default.
• W4200480910 hasConceptScore W4200480910C2776885963 @default.
• W4200480910 hasConceptScore W4200480910C2777464133 @default.
• W4200480910 hasConceptScore W4200480910C501734568 @default.
• W4200480910 hasConceptScore W4200480910C54009773 @default.
• W4200480910 hasConceptScore W4200480910C54355233 @default.
• W4200480910 hasConceptScore W4200480910C71924100 @default.
• W4200480910 hasConceptScore W4200480910C76818968 @default.
• W4200480910 hasConceptScore W4200480910C78519656 @default.
• W4200480910 hasConceptScore W4200480910C85562759 @default.
• W4200480910 hasConceptScore W4200480910C86803240 @default.
• W4200480910 hasLocation W42004809101 @default.
• W4200480910 hasLocation W42004809102 @default.
• W4200480910 hasLocation W42004809103 @default.
• W4200480910 hasLocation W42004809104 @default.
• W4200480910 hasOpenAccess W4200480910 @default.
• W4200480910 hasPrimaryLocation W42004809101 @default.
• W4200480910 hasRelatedWork W1973117335 @default.

• next