RESEARCH PAPERS – Genetics and Pathogenesis

Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders

Muñoz-González JI, García-Montero AC, Orfao A, Álvarez-Twose I. PATHOGENIC AND DIAGNOSTIC RELEVANCE OF KIT IN PRIMARY MAST CELL ACTIVATION DISORDERS [published online ahead of print, 2021 Jul 20]. Ann Allergy Asthma Immunol. 2021;S1081-1206(21)00513-5. doi:10.1016/j.anai.2021.07.014

18.09.2021

Effect of Dietary Fiber and Metabolites on Mast Cell Activation and Mast Cell-Associated Diseases

Folkerts J, Stadhouders R, Redegeld FA, et al. Effect of Dietary Fiber and Metabolites on Mast Cell Activation and Mast Cell-Associated Diseases. Front Immunol. 2018;9:1067. Published 2018 May 29. doi:10.3389/fimmu.2018.01067

17.09.2021

Cellular Energetics of Mast Cell Development and Activation

Mendoza RP, Fudge DH, Brown JM. Cellular Energetics of Mast Cell Development and Activation. Cells. 2021;10(3):524. Published 2021 Mar 2. doi:10.3390/cells10030524

17.09.2021

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing

Altmüller J, Haenisch B, Kawalia A, et al. Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics. 2017;69(6):359-369. doi:10.1007/s00251-017-0981-y

17.09.2021

The Circadian Clock Drives Mast Cell Functions in Allergic Reactions

Christ P, Sowa AS, Froy O, Lorentz A. The Circadian Clock Drives Mast Cell Functions in Allergic Reactions. Front Immunol. 2018;9:1526. Published 2018 Jul 6. doi:10.3389/fimmu.2018.01526

15.09.2021

Epigenetic and transcriptional control of mast cell responses.

Monticelli S, Leoni C. Epigenetic and transcriptional control of mast cell responses. F1000Res. 2017;6:2064. Published 2017 Nov 29. doi:10.12688/f1000research.12384.1

15.09.2021

Drug-Induced Pseudoallergy: A Review of the Causes and Mechanisms

Zhang B, Li Q, Shi C, Zhang X. Drug-Induced Pseudoallergy: A Review of the Causes and Mechanisms. Pharmacology. 2018;101(1-2):104-110. doi:10.1159/000479878

15.09.2021

Mast Cell Activation Disease and Microbiotic Interactions

Afrin LB, Khoruts A. Mast Cell Activation Disease and Microbiotic Interactions. Clin Ther. 2015;37(5):941-953. doi:10.1016/j.clinthera.2015.02.008

15.09.2021

Beyond IgE: Alternative Mast Cell Activation Across Different Disease States

Lyons DO, Pullen NA. Beyond IgE: Alternative Mast Cell Activation Across Different Disease States. Int J Mol Sci. 2020;21(4):1498. Published 2020 Feb 22. doi:10.3390/ijms21041498

15.09.2021

Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects.

Molderings GJ, Meis K, Kolck UW et al. Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. Immunogenetics. 2010 Dec;62(11-12):721-7.

21.11.2016

NIH Video, scientists uncover genetic explanation for frustrating syndrome

Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms.Most, but not all, people who experience these diverse symptoms have elevated levels of tryptase

17.10.2016

Elevated basal serum tryptase identifies a multisystem disorder

JJ Lyons et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nature Genetics DOI: 10.1038/ng.3696 (2016).

01.10.2016

Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features

Molderings GJ. Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features. Transl Res. 2016 Aug;174:86-97

10.08.2016

The genetic basis of mast cell activation disease - looking through a glass darkly

Molderings GJ. The genetic basis of mast cell activation disease - looking through a glass darkly. Crit Rev Oncol Hematol. 2015 Feb;93(2):75-89.

10.02.2015

Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

Lyons JJ, Sun G, Stone KD, et al. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J Allergy Clin Immunol. 2014 May;133(5):1471-4 .

15.05.2014

Evidence for contribution of epigenetic mechanisms in the pathogenesis of systemic mast cell activation disease

Haenisch B, Fröhlich H, Herms S, Molderings GJ. Evidence for contribution of epigenetic mechanisms in the pathogenesis of systemic mast cell activation disease. Immunogenetics. 2014 May;66(5):287-97.

10.05.2014

Familial Occurrence of Systemic Mast Cell Activation Disease

Molderings GJ, Haenisch B, Bogdanow M et al. Familial Occurrence of Systemic Mast Cell Activation Disease. PLoS One. 2013 Sep 30;8(9):e76241.

30.09.2013

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Haenisch B, Nöthen MM, Molderings GJ . Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology. 2012 Nov;137(3):197-205.

01.11.2012

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