ArticleAmerican journal of human genetics1999
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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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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Who cites it
33 citing papers in PubMed, 131 citations in OpenAlex.
- Nature-inspired IL-1 targeted therapy to treat chronic inflammatory diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.Immunological reviews · 2024Review
- NLRP3 inflammasome in neurodegenerative disease.Translational research : the journal of laboratory and clinical medicine · 2023Review
- NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.Frontiers in immunology · 2022Review
- Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2020Review
- Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).Clinical rheumatology · 2019Article
- Inflammasome-Dependent Cytokines at the Crossroads of Health and Autoinflammatory Disease.Cold Spring Harbor perspectives in biology · 2019Review
- Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.Mediators of inflammation · 2019Review
- Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside.Frontiers in pediatrics · 2019Review
- Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.European journal of rheumatology · 2019Article
- NLRs as Helpline in the Brain: Mechanisms and Therapeutic Implications.Molecular neurobiology · 2018Review
- [Genetics of cryopyrin-associated periodic syndrome].Zeitschrift fur Rheumatologie · 2017Review
- [Autoinflammatory syndromes : Practical approach to diagnostics and therapy].Zeitschrift fur Rheumatologie · 2016Review
- Recurrent Fevers for the Pediatric Immunologist: It's Not All Immunodeficiency.Current allergy and asthma reports · 2016Review
- IL-1 blockade in autoinflammatory syndromes.Annual review of medicine · 2014Review
- Gene hunting in autoinflammation.Clinical and translational allergy · 2013Article
- Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.Arthritis research & therapy · 2013Article
- NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.Arthritis research & therapy · 2011Article
- Interleukin-1 antagonists in the treatment of autoinflammatory syndromes, including cryopyrin-associated periodic syndrome.Open access rheumatology : research and reviews · 2011Review
- Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap).Biologics : targets & therapy · 2008Article
Corrections and comments
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Authors and funding
13 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Muckle-Wells syndrome (MWS) is a hereditary inflammatory disorder characterized by acute febrile inflammatory episodes comprising abdominal pain, arthritis, and urticaria. Progressive nerve deafness develops subsequently, and, after several years, the disease is complicated by multiorgan AA-type amyloidosis (i.e., amyloidosis derived from the inflammatory serum amyloid-associated protein) (MIM 191900) with renal involvement and end-stage renal failure. The mode of inheritance is autosomal dominant, but some sporadic cases have also been described. No specific laboratory findings have been reported. The genetic basis of MWS is unknown. Using a genomewide search strategy in three families, we identified the locus responsible for MWS, at chromosome 1q44. Our results indicate that the gene is located within a 13.9-cM region between markers D1S2811 and D1S2882, with a maximum two-point LOD score of 4. 66 (recombination fraction.00) at D1S2836 when full penetrance is assumed. Further identification of the specific gene that is responsible for MWS will therefore provide the first biological element for characterizing MWS, other than doing so on the basis of its variable clinical expression.
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