ArticleNPJ genomic medicine2019
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Cleavage of TOM1 by the SARS-CoV-2 main protease NSP5 prevents autophagic degradation of viral envelope.Journal of virology · 2026Article
- TOM1 family proteins: from cargo sorting to immune dysregulation and cancer.Cell communication and signaling : CCS · 2026Review
- Autophagy, endolysosomes and extracellular space in autoimmune and innate immune defects.Frontiers in immunology · 2026Review
- A TOM1 variant impairs interaction with TOLLIP, autophagosome-lysosome fusion and regulation of innate immunity.Disease models & mechanisms · 2025Article
- Structural and immunological impacts of TOLLIP nsSNPs: A computational biology approach to drug discovery and immune system modulation.PloS one · 2025Article
- DNA methylation profiling in Trisomy 21 females with and without breast cancer.Frontiers in oncology · 2023Article
- Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases.Human mutation · 2022Article
- Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.The Journal of allergy and clinical immunology · 2022Article
- Monogenic autoimmunity and infectious diseases: the double-edged sword of immune dysregulation.Current opinion in immunology · 2021Review
- Protein Trafficking or Cell Signaling: A Dilemma for the Adaptor Protein TOM1.Frontiers in cell and developmental biology · 2021Review
- CircRNA75 and CircRNA72 Function as the Sponge of MicroRNA-200 to Suppress Coelomocyte ApoptosisFrontiers in immunology · 2021Article
- Toll interacting protein protects bronchial epithelial cells from bleomycin-induced apoptosis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Genetic predisposition for multiple myeloma.Leukemia · 2020Review
- Mapping protein-protein interactions by mass spectrometry.Mass spectrometry reviewsReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in several proteins functioning as endolysosomal components cause monogenic autoimmune diseases, of which pathogenesis is linked to increased endoplasmic reticulum stress, inefficient autophagy, and defective recycling of immune receptors. We report here a heterozygous
Indexed as
Identifiers
What OpenQuestion holds
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.