ArticlePLoS genetics2019
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 36 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.
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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
36 citing papers in PubMed.
- Article
- Alpha-dystroglycan receptor signaling likely influences basement membrane laminin α2 mediated pathology in the stria vascularis of Alport mice.Hearing research · 2025Article
- Early establishment and life course stability of sex biases in the human brain transcriptome.Cell genomics · 2025Article
- Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.Scientific reports · 2025Article
- Blurred by a "Puff of Smoke"-A Case-Based Review on the Challenging Recognition of Coexisting CNS Demyelinating Disease and Moyamoya Angiopathy.International journal of molecular sciences · 2025Review
- Transcriptomic alterations in cortical astrocytes following the development of post-traumatic epilepsy.Scientific reports · 2024Article
- Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.Human mutation · 2024Article
- Review
- Methyl-CpG-Binding Protein 2 Emerges as a Central Player in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders.Cellular and molecular neurobiology · 2023Review
- Prognostic Genomic Markers of Pathological Stage in Oral Squamous Cell Carcinoma.Head and neck pathology · 2023Article
- C1q and central nervous system disorders.Frontiers in immunology · 2023Review
- Alpha-T-catenin is expressed in peripheral nerves as a constituent of Schwann cell adherens junctions.Biology open · 2022Article
- Investigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation.Scientific reports · 2022Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Review
- The innate immune receptor Nlrp12 suppresses autoimmunity to the retina.Journal of neuroinflammation · 2022Article
- Steroid Receptor Coactivator 3 Regulates Synaptic Plasticity and Hippocampus-dependent Memory.Neuroscience bulletin · 2021Article
- Two Rare Variants inGenes · 2021Article
- Expression and clinical significance of IL7R, NFATc2, and RNF213 in familial and sporadic multiple sclerosis.Scientific reports · 2021Observational
- Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part I. Targeting a metabolic model rather than autoimmunity.Metabolic brain disease · 2021Review
Corrections and comments
- Expression of concern · 2019-10-11Concerns/Issues about Data · Concerns/Issues about Results and/or Conclusions · Investigation by Journal/Publisher · Objections by Third Party · · see also: https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008437
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Authors and funding
33 authors.
Funding
Abstract
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms have been described. We performed whole-exome sequencing analysis in 132 patients from 34 multi-incident families, which nominated likely pathogenic variants for MS in 12 genes of the innate immune system that regulate the transcription and activation of inflammatory mediators. Rare missense or nonsense variants were identified in genes of the fibrinolysis and complement pathways (PLAU, MASP1, C2), inflammasome assembly (NLRP12), Wnt signaling (UBR2, CTNNA3, NFATC2, RNF213), nuclear receptor complexes (NCOA3), and cation channels and exchangers (KCNG4, SLC24A6, SLC8B1). These genes suggest a disruption of interconnected immunological and pro-inflammatory pathways as the initial event in the pathophysiology of familial MS, and provide the molecular and biological rationale for the chronic inflammation, demyelination and neurodegeneration observed in MS patients.
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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.