ReviewGenes & diseases2022
Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.
Review in Genes & diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 21 citations in OpenAlex.
- Transcriptomic and proteomic analysis of MVK variant sites in two subtypes of porokeratosis.Journal of applied genetics · 2026Article
- A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood.Genes · 2026Article
- Epidemiology and Genetics of Rheumatic Diseases Suggest a Constant Rate of DNA Damage as Underlying Cause.Immunology · 2026Article
- Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry.Rheumatology and therapy · 2025Article
- Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.Frontiers in immunology · 2025Article
- Porokeratoses: an update on pathogenesis and treatment.International journal of dermatology · 2025Review
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.Clinical reviews in allergy & immunology · 2023Review
- Decreased Imiquimod-Induced Psoriasis-Like Skin Inflammation in a Novel MvdInflammation · 2023Article
- The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.Frontiers in immunology · 2023Review
- Isolated neurological presentations of mevalonate kinase deficiency.JIMD reports · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (
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.