Matches in SemOpenAlex for { <https://semopenalex.org/work/W3217621161> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W3217621161 endingPage "92" @default.
- W3217621161 startingPage "77" @default.
- W3217621161 abstract "Mutations in the WFS1 gene have been reported in Wolfram syndrome (WFS), a rare and autosomal recessive disorder defined by early onset of diabetes mellitus and progressive optic and hearing impairment. Only few data are available concerning the association between clinical and molecular aspects of the WFS. We present a consanguineous family with a patient presenting an early onset of WFS and severe manifestations. Sequencing of WFS1 gene was performed for all the family members to search for responsible mutation and bioinformatics tools were conducted to predict its effect on structure and function of the protein. We have detected a novel frameshift mutation in the proband at homozygous state and at the heterozygous state in the parents who have no WFS manifestations. In silico analysis predicted the pathogenicity of the mutation and could lead to a complete loss of its function. Thus, 3D modeling showed that the mutation abolishes the interaction of the CaM binding region to the N-terminal of WFS1 and then impairs the WFS1-CaM complex formation. Genotype-phenotype correlation study shows that the novel mutation predisposes to early onset of diabetes and severe symptoms observed in the proband. We also report the effect of the frameshift mutation on the CaM-WFS1 impaired binding, and we discuss its possible consequence in pancreatic β-cells dysfunction and its role in the early onset of diabetes. In conclusion, the combination of impaired functions of WFS1 including unproper interaction of the CaM, Ca2+ uptake, mitochondrial dysfunction, and apoptosis under the ER stress could be involved in the severe phenotype and early onset of WFS of our patient." @default.
- W3217621161 created "2021-12-06" @default.
- W3217621161 creator A5002694857 @default.
- W3217621161 creator A5005364329 @default.
- W3217621161 creator A5014131580 @default.
- W3217621161 creator A5031438381 @default.
- W3217621161 creator A5046741953 @default.
- W3217621161 creator A5049291834 @default.
- W3217621161 creator A5051069724 @default.
- W3217621161 creator A5069440910 @default.
- W3217621161 creator A5078697324 @default.
- W3217621161 date "2021-01-01" @default.
- W3217621161 modified "2023-10-02" @default.
- W3217621161 title "Severe Wolfram Syndrome Caused by a Novel Frameshift Mutation in <i>WFS1</i> Gene: Effect on the WFS1/CaM Interaction and Phenotype-Genotype Correlation" @default.
- W3217621161 doi "https://doi.org/10.4236/ojgen.2021.114008" @default.
- W3217621161 hasPublicationYear "2021" @default.
- W3217621161 type Work @default.
- W3217621161 sameAs 3217621161 @default.
- W3217621161 citedByCount "0" @default.
- W3217621161 crossrefType "journal-article" @default.
- W3217621161 hasAuthorship W3217621161A5002694857 @default.
- W3217621161 hasAuthorship W3217621161A5005364329 @default.
- W3217621161 hasAuthorship W3217621161A5014131580 @default.
- W3217621161 hasAuthorship W3217621161A5031438381 @default.
- W3217621161 hasAuthorship W3217621161A5046741953 @default.
- W3217621161 hasAuthorship W3217621161A5049291834 @default.
- W3217621161 hasAuthorship W3217621161A5051069724 @default.
- W3217621161 hasAuthorship W3217621161A5069440910 @default.
- W3217621161 hasAuthorship W3217621161A5078697324 @default.
- W3217621161 hasBestOaLocation W32176211611 @default.
- W3217621161 hasConcept C104317684 @default.
- W3217621161 hasConcept C127716648 @default.
- W3217621161 hasConcept C188997412 @default.
- W3217621161 hasConcept C200844832 @default.
- W3217621161 hasConcept C2776756211 @default.
- W3217621161 hasConcept C29906990 @default.
- W3217621161 hasConcept C501734568 @default.
- W3217621161 hasConcept C54355233 @default.
- W3217621161 hasConcept C71924100 @default.
- W3217621161 hasConcept C86803240 @default.
- W3217621161 hasConceptScore W3217621161C104317684 @default.
- W3217621161 hasConceptScore W3217621161C127716648 @default.
- W3217621161 hasConceptScore W3217621161C188997412 @default.
- W3217621161 hasConceptScore W3217621161C200844832 @default.
- W3217621161 hasConceptScore W3217621161C2776756211 @default.
- W3217621161 hasConceptScore W3217621161C29906990 @default.
- W3217621161 hasConceptScore W3217621161C501734568 @default.
- W3217621161 hasConceptScore W3217621161C54355233 @default.
- W3217621161 hasConceptScore W3217621161C71924100 @default.
- W3217621161 hasConceptScore W3217621161C86803240 @default.
- W3217621161 hasIssue "04" @default.
- W3217621161 hasLocation W32176211611 @default.
- W3217621161 hasOpenAccess W3217621161 @default.
- W3217621161 hasPrimaryLocation W32176211611 @default.
- W3217621161 hasRelatedWork W2375758404 @default.
- W3217621161 hasRelatedWork W2377037724 @default.
- W3217621161 hasRelatedWork W24577188 @default.
- W3217621161 hasRelatedWork W2787928727 @default.
- W3217621161 hasRelatedWork W2931132270 @default.
- W3217621161 hasRelatedWork W2947178064 @default.
- W3217621161 hasRelatedWork W3201076994 @default.
- W3217621161 hasRelatedWork W3217621161 @default.
- W3217621161 hasRelatedWork W4281651212 @default.
- W3217621161 hasRelatedWork W4295196958 @default.
- W3217621161 hasVolume "11" @default.
- W3217621161 isParatext "false" @default.
- W3217621161 isRetracted "false" @default.
- W3217621161 magId "3217621161" @default.
- W3217621161 workType "article" @default.