ArticleImmunogenetics2010
Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects.
Article in Immunogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 57 citations in OpenAlex.
- Breast Implant Illness May Be Rooted in Mast Cell Activation: A Case-Controlled Retrospective Analysis.Annals of surgery open : perspectives of surgical history, education, and clinical approaches · 2024Article
- Hyper/neuroinflammation in COVID-19 and suicide etiopathogenesis: Hypothesis for a nefarious collision?Neuroscience and biobehavioral reviews · 2022Review
- Article
- Covid-19 hyperinflammation and post-Covid-19 illness may be rooted in mast cell activation syndrome.International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2020Article
- Nonclonal Mast Cell Activation Syndrome: A Growing Body of Evidence.Immunology and allergy clinics of North America · 2018Review
- Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.Immunogenetics · 2017Article
- Risk of solid cancer in patients with mast cell activation syndrome: Results from Germany and USA.F1000Research · 2017Article
- Pharmacological treatment options for mast cell activation disease.Naunyn-Schmiedeberg's archives of pharmacology · 2016Review
- Mast Cell-Mediated Mechanisms of Nociception.International journal of molecular sciences · 2015Review
- Mast cell activation syndrome as a significant comorbidity in sickle cell disease.The American journal of the medical sciences · 2014Article
- Prostaglandin D2-supplemented "functional eicosanoid testing and typing" assay with peripheral blood leukocytes as a new tool in the diagnosis of systemic mast cell activation disease: an explorative diagnostic study.Journal of translational medicine · 2014Article
- Anaphylaxis as a clinical manifestation of clonal mast cell disorders.Current allergy and asthma reports · 2014Review
- Evidence for contribution of epigenetic mechanisms in the pathogenesis of systemic mast cell activation disease.Immunogenetics · 2014Article
- Utility of hydroxyurea in mast cell activation syndrome.Experimental hematology & oncology · 2013Article
- A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2013Article
- Immunology and clinical manifestations of non-clonal mast cell activation syndrome.Current allergy and asthma reports · 2013Review
- Article
- Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.Immunology · 2012Review
- Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options.Journal of hematology & oncology · 2011Review
- A 60-year-old woman with recurrent episodes of flushing, urticaria, and angioedema.Allergy and asthma proceedingsArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic mast cell activation syndrome is a mast cell disorder characterized by an unregulated increased activation of mast cells leading to a pathologically enhanced release of mediators. Mutations in tyrosine kinase kit which crucially determines mast cell activity have been suggested as a necessary condition for the development of a clinically symptomatic mast cell disease. At the level of mRNA in mast cell progenitor cells of 20 patients with systemic mast cell activation syndrome and of 20 gender- and age-matched healthy volunteers, the tyrosine kinase kit was investigated for genetic alterations by means of RT-PCR and direct sequencing of the amplificates. In mast cells of 13 out of these 20 patients, multiple predominantly novel potential functionally activating point mutations or complex alterations of the mRNA sequence encoding the tyrosine kinase kit were detected. In contrast, in 19 of the 20 healthy subjects, no functionally relevant alterations of c-kit transcripts were detected. The present findings support the idea that the systemic mast cell activation syndrome is a clonal disease most commonly associated with variable activating mutations in the tyrosine kinase kit.
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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.