SynthesisEndocrine2010
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Synthesis in Endocrine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A.Inflammation · 2025Article
- Associations Between Diabetes Mellitus and Neurodegenerative Diseases.International journal of molecular sciences · 2025Review
- A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.Frontiers in endocrinology · 2025Article
- Review
- Case Report: A novel mutation inFrontiers in genetics · 2023Article
- Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.American journal of ophthalmology case reports · 2022Article
- Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.International journal of environmental research and public health · 2021Review
- 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.BMC endocrine disorders · 2021Article
- Missense Variant of Endoplasmic Reticulum Region ofBioMed research international · 2021Article
- Article
- Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.Journal of translational medicine · 2019Review
- Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation inFrontiers in endocrinology · 2018Article
- Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.Scientific reports · 2015Article
- A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.Journal of diabetes & metabolism · 2015Article
- Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.PloS one · 2014Article
- OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wolfram syndrome is a rare hereditary disease characterized by diabetes mellitus and optic atrophy. The outcome of this disease is always poor. WFS1 gene mutation is the main cause of this disease. A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and cataract was diagnosed with Wolfram syndrome. Mutations in open reading frame (ORF) of WFS1 gene was analyzed by sequencing. Mutations in WFS1 gene was also summarized by a systematic review in Pubmed and Chinese biological and medical database. Sequencing of WFS1 gene in this patient showed a new mutation, 1962G>A, and two other non-sense mutations, 2433A>G and 2565G>A. Systematic review included 219 patients in total and identified 172 WFS1 gene mutations, most of which were located in Exon 8. These mutations in WFS1 gene might be useful in prenatal diagnosis of Wolfram syndrome.
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