FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W98721963> ?p ?o ?g. }

• W98721963 endingPage "30" @default.
• W98721963 startingPage "124" @default.
• W98721963 abstract "NEUROD1 is a tissue-specific basic helix loop helix (bHLH) protein involved in the development and maintenance of the endocrine pancreas and neuronal elements. Loss of NEUROD1 causes ataxia, cerebellar hypoplasia, sensorineural deafness, and severe retinal dystrophy in mice. Heterozygous loss-of-function mutations in NEUROD1 have previously been described as a cause of maturity-onset diabetes of the young (MODY) and late-onset diabetes. To date, homozygous loss-of-function NEUROD1 mutations have only been detected in two patients. Both mutations caused permanent neonatal diabetes and severe neurologic defects, including visual impairment. However, a detailed ophthalmological phenotype of this novel syndrome has not yet been reported. Our aim was to characterize the ophthalmological phenotype associated with the previously reported homozygous c.427_428CT mutation in the NEUROD1 gene.The female patient was investigated on multiple occasions between 2009 (age 14) and 2014 (age 19), including visual acuity testing, automated perimetry, funduscopy, anterior-segment imaging, optical coherence tomography of the posterior pole, standard full-field electroretinography, and fundus-autofluorescence imaging.The patient had nyctalopia, blurry vision, and visual field constriction from early childhood. Her best corrected visual acuity ranged between 20/25 and 15/25 during the investigation period. Perimetry showed concentric constriction of the visual field, sparing only the central 30 degrees in both eyes. The anterior segment did not show any morphological changes. Optical coherence tomography revealed total absence of the photoreceptor layer of the retina outside the fovea, where a discoid remnant of cone photoreceptors could be detected. Neither setting of the standard full-field electroretinography could detect any electrical response from the retina. Color fundus photos presented peripheral chorioretinal atrophy and central RPE mottling. A hyperreflective parafoveal ring was detected on fundus autofluorescent photos, a characteristic sign of hereditary retinal dystrophies.To the best of our knowledge, this is the first report on the ophthalmological phenotype associating with a homozygous NEUROD1 null mutation in humans. Our results indicate that the loss of NEUROD1 has similar functional and anatomic consequences in the human retina as those described in mice. The present description can help the diagnosis of future cases and provide clues on the rate of disease progression." @default.
• W98721963 created "2016-06-24" @default.
• W98721963 creator A5017388851 @default.
• W98721963 creator A5025485538 @default.
• W98721963 creator A5025730906 @default.
• W98721963 creator A5035757812 @default.
• W98721963 creator A5045868295 @default.
• W98721963 creator A5069730982 @default.
• W98721963 creator A5072413631 @default.
• W98721963 creator A5079053871 @default.
• W98721963 date "2015-01-01" @default.
• W98721963 modified "2023-10-16" @default.
• W98721963 title "Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene." @default.
• W98721963 cites W1541138555 @default.
• W98721963 cites W1607294450 @default.
• W98721963 cites W1614679068 @default.
• W98721963 cites W1846704321 @default.
• W98721963 cites W1972676659 @default.
• W98721963 cites W1974917136 @default.
• W98721963 cites W1978174158 @default.
• W98721963 cites W1985273050 @default.
• W98721963 cites W1989472692 @default.
• W98721963 cites W1989931447 @default.
• W98721963 cites W1997665947 @default.
• W98721963 cites W2001232102 @default.
• W98721963 cites W2007969062 @default.
• W98721963 cites W2012231968 @default.
• W98721963 cites W2025531536 @default.
• W98721963 cites W2062004225 @default.
• W98721963 cites W2065420973 @default.
• W98721963 cites W2079355553 @default.
• W98721963 cites W2089032369 @default.
• W98721963 cites W2092528080 @default.
• W98721963 cites W2096832769 @default.
• W98721963 cites W2099035230 @default.
• W98721963 cites W2105828663 @default.
• W98721963 cites W2122804136 @default.
• W98721963 cites W2128418445 @default.
• W98721963 cites W2142486892 @default.
• W98721963 cites W2147635933 @default.
• W98721963 cites W2160538256 @default.
• W98721963 cites W62821925 @default.
• W98721963 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4323689" @default.
• W98721963 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25684977" @default.
• W98721963 hasPublicationYear "2015" @default.
• W98721963 type Work @default.
• W98721963 sameAs 98721963 @default.
• W98721963 citedByCount "1" @default.
• W98721963 countsByYear W987219632023 @default.
• W98721963 crossrefType "journal-article" @default.
• W98721963 hasAuthorship W98721963A5017388851 @default.
• W98721963 hasAuthorship W98721963A5025485538 @default.
• W98721963 hasAuthorship W98721963A5025730906 @default.
• W98721963 hasAuthorship W98721963A5035757812 @default.
• W98721963 hasAuthorship W98721963A5045868295 @default.
• W98721963 hasAuthorship W98721963A5069730982 @default.
• W98721963 hasAuthorship W98721963A5072413631 @default.
• W98721963 hasAuthorship W98721963A5079053871 @default.
• W98721963 hasConcept C105702510 @default.
• W98721963 hasConcept C118487528 @default.
• W98721963 hasConcept C169760540 @default.
• W98721963 hasConcept C2776391266 @default.
• W98721963 hasConcept C2777093970 @default.
• W98721963 hasConcept C2778257484 @default.
• W98721963 hasConcept C2779113765 @default.
• W98721963 hasConcept C2780327212 @default.
• W98721963 hasConcept C2780827179 @default.
• W98721963 hasConcept C2781040256 @default.
• W98721963 hasConcept C71924100 @default.
• W98721963 hasConcept C86803240 @default.
• W98721963 hasConceptScore W98721963C105702510 @default.
• W98721963 hasConceptScore W98721963C118487528 @default.
• W98721963 hasConceptScore W98721963C169760540 @default.
• W98721963 hasConceptScore W98721963C2776391266 @default.
• W98721963 hasConceptScore W98721963C2777093970 @default.
• W98721963 hasConceptScore W98721963C2778257484 @default.
• W98721963 hasConceptScore W98721963C2779113765 @default.
• W98721963 hasConceptScore W98721963C2780327212 @default.
• W98721963 hasConceptScore W98721963C2780827179 @default.
• W98721963 hasConceptScore W98721963C2781040256 @default.
• W98721963 hasConceptScore W98721963C71924100 @default.
• W98721963 hasConceptScore W98721963C86803240 @default.
• W98721963 hasLocation W987219631 @default.
• W98721963 hasOpenAccess W98721963 @default.
• W98721963 hasPrimaryLocation W987219631 @default.
• W98721963 hasRelatedWork W2052745407 @default.
• W98721963 hasRelatedWork W2058977615 @default.
• W98721963 hasRelatedWork W2072352422 @default.
• W98721963 hasRelatedWork W2280558486 @default.
• W98721963 hasRelatedWork W2418941538 @default.
• W98721963 hasRelatedWork W2781645075 @default.
• W98721963 hasRelatedWork W3014513769 @default.
• W98721963 hasRelatedWork W3029458273 @default.
• W98721963 hasRelatedWork W3139816046 @default.
• W98721963 hasRelatedWork W3183278986 @default.
• W98721963 hasVolume "21" @default.
• W98721963 isParatext "false" @default.
• W98721963 isRetracted "false" @default.

• next