ArticleMolecular neurobiology2019
Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.
Article in Molecular neurobiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Comorbid autoimmune diseases do not influence long-term disability progression in multiple sclerosis.Acta neurologica Belgica · 2026Article
- GNGT1 is a potential prognostic and immunologic biomarker in gastric cancer.Scientific reports · 2025Article
- Identifying the NEAT1/miR-26b-5p/S100A2 axis as a regulator in Parkinson's disease based on the ferroptosis-related genes.PloS one · 2024Article
- Acute uveitis caused by abnormal glucose and lipid metabolism: a case report.BMC ophthalmology · 2023Article
- LeMeDISCO is a computational method for large-scale prediction & molecular interpretation of disease comorbidity.Communications biology · 2022Article
- Uveitis prior to clinical presentation of Multiple Sclerosis (MS) is associated with better MS prognosis.PloS one · 2022Article
- Identified GNGT1 and NMU as Combined Diagnosis Biomarker of Non-Small-Cell Lung Cancer Utilizing Bioinformatics and Logistic Regression.Disease markers · 2021Article
- Intermediate uveitis associated with MS: Diagnosis, clinical features, pathogenic mechanisms, and recommendations for management.Neurology(R) neuroimmunology & neuroinflammation · 2021Review
- Integrating the Ribonucleic Acid Sequencing Data From Various Studies for Exploring the Multiple Sclerosis-Related Long Noncoding Ribonucleic Acids and Their Functions.Frontiers in genetics · 2019Article
- Targeting alpha-4 integrin with natalizumab for intermediate uveitis associated with multiple sclerosis.Multiple sclerosis journal - experimental, translational and clinicalArticle
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uveitis, defined as inflammation of the uveal tract of the eye, is a leading cause of blindness and visual impairment throughout the world. The etiology of uveitis is complex, and autoimmunity plays a major role in its pathogenesis. Intermediate uveitis (IU), a subtype of ocular inflammation, has been associated with systemic autoimmune disorders, specifically with multiple sclerosis (MS). This article reports a rare three-generation family with several members affected by IU (four siblings) and comorbid MS (two siblings fulfilling MS diagnostic criteria and a third sibling presenting some neurological symptoms). Based on the clinical findings, we captured and sequenced whole exomes of seven pedigree members (affected and unaffected). Using a recessive model of transmission with full penetrance, we applied genetic linkage analysis to define minimal critical regions (MCRs) in suggestive or nominal regions of linkage. In these MCRs, we defined functional (some pathogenic), novel, and rare mutations that segregated as homozygous in affected and heterozygous in unaffected family members. The genes harboring these mutations, including DGKI, TNFRSF10A, GNGT1, CPAMD8, and BAFF, which are expressed in both eye and brain tissues and/or are related to autoimmune diseases, provide new avenues to evaluate the inherited causes of these devastating autoimmune conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.