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Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
BackgroundWolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is...
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Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
BackgroundWolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its...
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Deficiency of WFS1 leads to the impairment of AVP secretion under dehydration in male mice
Wolfram syndrome (WS) is mainly caused by mutations in the WFS1 gene and characterized by diabetes mellitus, optic atrophy, hearing loss, and central...
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Combined effect of pancreatic lipid content and gene variants (TCF7L2, WFS1 and 11BHSD1) on B-cell function in Middle Aged Women in a Post Hoc Analysis
BackgroundTCF7L2 rs7903146 and PNPLA3 rs738409 gene variants confer the strongest risk for type 2 diabetes mellitus (T2DM) and non-alcoholic fatty...
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A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1
BackgroundWolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and...
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Modeling disrupted synapse formation in wolfram syndrome using hESCs-derived neural cells and cerebral organoids identifies Riluzole as a therapeutic molecule
Dysregulated neurite outgrowth and synapse formation underlie many psychiatric disorders, which are also manifested by wolfram syndrome (WS). Whether...
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GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models
Aims/hypothesisWolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene. It is characterised by...
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Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome
PurposeWolfram syndrome (WS) is a rare disorder caused by mutations in WFS1 that is characterized by diabetes mellitus, optic atrophy, sensorineural...
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A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy
BackgroundWolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the...
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Wolframin is a novel regulator of tau pathology and neurodegeneration
Selective neuronal vulnerability to protein aggregation is found in many neurodegenerative diseases including Alzheimer’s disease (AD). Understanding...
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Wolfram syndrome type 1: a case series
BackgroundWolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent...
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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
BackgroundWe studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and...
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Identification of causative gene variants for patients with known monogenic diabetes using a targeted next-generation sequencing panel in a single-center study
AimsWe aimed to verify the usefulness of targeted next-generation sequencing (NGS) technology for diagnosing monogenic diabetes in a single center.
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Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
PurposeThe present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES)...
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Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq
Aims/hypothesisMonogenic diabetes is estimated to account for 1–6% of paediatric diabetes cases in primarily non-consanguineous populations, while...
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Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register
Aims/hypothesisMonogenic forms of diabetes (MODY, neonatal diabetes mellitus and syndromic forms) are rare, and affected individuals may be...
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Wolfram syndrome 1 gene regulates pathways maintaining beta-cell health and survival
Wolfram Syndrome 1 (WFS1) protein is an endoplasmic reticulum (ER) factor whose deficiency results in juvenile-onset diabetes secondary to cellular...
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Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria
PurposeHearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become...
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