FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4321016141> ?p ?o ?g. }

• W4321016141 abstract "Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which would assist clinicians in classifying the severity and prognosis of Wolfram syndrome more accurately.Patient data from the Washington University International Registry and Clinical Study for Wolfram Syndrome and patient case reports were analyzed to select for patients with two recessive mutations in the WFS1 gene. Mutations were classified as being either nonsense/frameshift variants or missense/in-frame insertion/deletion variants and statistical analysis was performed using unpaired and paired t-tests and one- and two-way ANOVA with Tukey's or Dunnett's tests.A greater number of genotype variants correlated with earlier onset and a more severe presentation of Wolfram syndrome. Secondly, non-sense and frameshift variants had more severe phenotypic presentations than missense variants, as evidenced by optic atrophy emerging significantly earlier in patients with 2 nonsense/frameshift alleles compared with 0 missense transmembrane variants. In addition, the number of transmembrane in-frame variants demonstrated a statistically significant dose-effect on age of onset of diabetes mellitus and optic atrophy.The results contribute to our current understanding of the genotype-phenotype relationship of Wolfram syndrome, suggesting that alterations in coding sequences result in significant changes in the presentation and severity of Wolfram. The impact of these findings is significant, as the results will aid clinicians in predicting more accurate prognoses and pave the way for personalized treatments for Wolfram syndrome." @default.
• W4321016141 created "2023-02-17" @default.
• W4321016141 creator A5001681207 @default.
• W4321016141 creator A5003742984 @default.
• W4321016141 creator A5005412302 @default.
• W4321016141 creator A5006017994 @default.
• W4321016141 creator A5010890152 @default.
• W4321016141 creator A5022270089 @default.
• W4321016141 creator A5032797754 @default.
• W4321016141 creator A5033152251 @default.
• W4321016141 creator A5042781142 @default.
• W4321016141 creator A5042956690 @default.
• W4321016141 creator A5049046007 @default.
• W4321016141 creator A5061149284 @default.
• W4321016141 creator A5064828274 @default.
• W4321016141 creator A5066774981 @default.
• W4321016141 creator A5067144298 @default.
• W4321016141 creator A5070517803 @default.
• W4321016141 date "2023-02-16" @default.
• W4321016141 modified "2023-10-06" @default.
• W4321016141 title "Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders" @default.
• W4321016141 cites W1979551878 @default.
• W4321016141 cites W1985648546 @default.
• W4321016141 cites W1995041255 @default.
• W4321016141 cites W1995390066 @default.
• W4321016141 cites W2033624647 @default.
• W4321016141 cites W2049103927 @default.
• W4321016141 cites W2050915787 @default.
• W4321016141 cites W2055550014 @default.
• W4321016141 cites W2076843631 @default.
• W4321016141 cites W2086293424 @default.
• W4321016141 cites W2171508739 @default.
• W4321016141 cites W2327703579 @default.
• W4321016141 cites W2337762305 @default.
• W4321016141 cites W2610391630 @default.
• W4321016141 cites W2612922689 @default.
• W4321016141 cites W2626748602 @default.
• W4321016141 cites W2810082108 @default.
• W4321016141 cites W2884056088 @default.
• W4321016141 cites W2955438150 @default.
• W4321016141 cites W2992599295 @default.
• W4321016141 cites W3006342576 @default.
• W4321016141 cites W3119182856 @default.
• W4321016141 cites W3139531323 @default.
• W4321016141 cites W3212769457 @default.
• W4321016141 cites W4223584403 @default.
• W4321016141 doi "https://doi.org/10.1101/2023.02.15.23284904" @default.
• W4321016141 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36824811" @default.
• W4321016141 hasPublicationYear "2023" @default.
• W4321016141 type Work @default.
• W4321016141 citedByCount "0" @default.
• W4321016141 crossrefType "posted-content" @default.
• W4321016141 hasAuthorship W4321016141A5001681207 @default.
• W4321016141 hasAuthorship W4321016141A5003742984 @default.
• W4321016141 hasAuthorship W4321016141A5005412302 @default.
• W4321016141 hasAuthorship W4321016141A5006017994 @default.
• W4321016141 hasAuthorship W4321016141A5010890152 @default.
• W4321016141 hasAuthorship W4321016141A5022270089 @default.
• W4321016141 hasAuthorship W4321016141A5032797754 @default.
• W4321016141 hasAuthorship W4321016141A5033152251 @default.
• W4321016141 hasAuthorship W4321016141A5042781142 @default.
• W4321016141 hasAuthorship W4321016141A5042956690 @default.
• W4321016141 hasAuthorship W4321016141A5049046007 @default.
• W4321016141 hasAuthorship W4321016141A5061149284 @default.
• W4321016141 hasAuthorship W4321016141A5064828274 @default.
• W4321016141 hasAuthorship W4321016141A5066774981 @default.
• W4321016141 hasAuthorship W4321016141A5067144298 @default.
• W4321016141 hasAuthorship W4321016141A5070517803 @default.
• W4321016141 hasBestOaLocation W43210161411 @default.
• W4321016141 hasConcept C104317684 @default.
• W4321016141 hasConcept C127716648 @default.
• W4321016141 hasConcept C135763542 @default.
• W4321016141 hasConcept C180754005 @default.
• W4321016141 hasConcept C2776756211 @default.
• W4321016141 hasConcept C2781172350 @default.
• W4321016141 hasConcept C29906990 @default.
• W4321016141 hasConcept C54355233 @default.
• W4321016141 hasConcept C62923972 @default.
• W4321016141 hasConcept C71924100 @default.
• W4321016141 hasConcept C75563809 @default.
• W4321016141 hasConcept C86803240 @default.
• W4321016141 hasConcept C96777560 @default.
• W4321016141 hasConceptScore W4321016141C104317684 @default.
• W4321016141 hasConceptScore W4321016141C127716648 @default.
• W4321016141 hasConceptScore W4321016141C135763542 @default.
• W4321016141 hasConceptScore W4321016141C180754005 @default.
• W4321016141 hasConceptScore W4321016141C2776756211 @default.
• W4321016141 hasConceptScore W4321016141C2781172350 @default.
• W4321016141 hasConceptScore W4321016141C29906990 @default.
• W4321016141 hasConceptScore W4321016141C54355233 @default.
• W4321016141 hasConceptScore W4321016141C62923972 @default.
• W4321016141 hasConceptScore W4321016141C71924100 @default.
• W4321016141 hasConceptScore W4321016141C75563809 @default.
• W4321016141 hasConceptScore W4321016141C86803240 @default.
• W4321016141 hasConceptScore W4321016141C96777560 @default.
• W4321016141 hasLocation W43210161411 @default.
• W4321016141 hasLocation W43210161412 @default.
• W4321016141 hasLocation W43210161413 @default.
• W4321016141 hasOpenAccess W4321016141 @default.
• W4321016141 hasPrimaryLocation W43210161411 @default.

• next