ReviewImmunology2012
Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.
Review in Immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
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.
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Who cites it
25 citing papers in PubMed, 45 citations in OpenAlex.
- Mast Cells in the Developing Brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Review
- Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome.Current issues in molecular biology · 2024Article
- A fully human anti-c-Kit monoclonal antibody 2G4 inhibits proliferation and degranulation of human mast cells.Molecular and cellular biochemistry · 2023Article
- The role of human mast cells in allergy and asthma.Bioengineered · 2022Review
- Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.American journal of human genetics · 2021Article
- 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
- Comparative aspects of mast cell neoplasia in animals and the role of KIT in prognosis and treatment.Veterinary medicine and science · 2020Review
- Role of ADTRP (Androgen-Dependent Tissue Factor Pathway Inhibitor Regulating Protein) in Vascular Development and Function.Journal of the American Heart Association · 2018Article
- Mast cell deposition and activation may be a new explanation for epiploic appendagitis.BMJ case reports · 2018Article
- A β-Glucan-Based Dietary Fiber Reduces Mast Cell-Induced Hyperpermeability in Ileum From Patients With Crohn's Disease and Control Subjects.Inflammatory bowel diseases · 2017Article
- Genomic profiling of canine mast cell tumors identifies DNA copy number aberrations associated with KIT mutations and high histological grade.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2017Article
- Characterization of Mast Cell Activation Syndrome.The American journal of the medical sciences · 2017Article
- Risk of solid cancer in patients with mast cell activation syndrome: Results from Germany and USA.F1000Research · 2017Article
- Case Report: Treatment of systemic mastocytosis with sunitinib.F1000Research · 2017Article
- Pharmacological treatment options for mast cell activation disease.Naunyn-Schmiedeberg's archives of pharmacology · 2016Review
- Mast Cell Clonal Disorders: Classification, Diagnosis and Management.Current treatment options in allergy · 2016Review
- Determination of plasma heparin level improves identification of systemic mast cell activation disease.PloS one · 2015Article
- Advances in anti-IgE therapy.BioMed research international · 2015Review
- Mast cell activation syndrome as a significant comorbidity in sickle cell disease.The American journal of the medical sciences · 2014Article
- An overview of the effects of anti-IgE therapies.Medical science monitor : international medical journal of experimental and clinical research · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite increasing understanding of its pathophysiology, the aetiology of systemic mast cell activation disease (MCAD) remains largely unknown. Research has shown that somatic mutations in kinases are necessary for the establishment of a clonal mast cell population, in particular mutations in the tyrosine kinase Kit and in enzymes and receptors with crucial involvement in the regulation of mast cell activity. However, other, as yet undetermined, abnormalities are necessary for the manifestation of clinical disease. The present article reviews molecular genetic research into the identification of disease-associated genes and their mutational alterations. The authors also present novel data on familial systemic MCAD and review the associated literature. Finally, the importance of understanding the molecular basis of inherited mutations in terms of diagnostics and therapy is emphasized.
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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.