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ORIGINAL ARTICLE

Multiple novel alterations in Kit tyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder

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Pages 1045-1053 | Received 29 Dec 2006, Published online: 08 Jul 2009

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Read on this site (2)

Lawrence B. Afrin, Joseph H. Butterfield, Martin Raithel & Gerhard J. Molderings. (2016) Often seen, rarely recognized: mast cell activation disease – a guide to diagnosis and therapeutic options. Annals of Medicine 48:3, pages 190-201.
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Ozden Ozer, Yi D. Zhao, Kelly R. Ostler, Cem Akin, John Anastasi, James W. Vardiman & Lucy A. Godley. (2008) The identification and characterisation of novel KIT transcripts in aggressive mast cell malignancies and normal CD34+ cells. Leukemia & Lymphoma 49:8, pages 1567-1577.
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Articles from other publishers (61)

Èva S. Nagy, Mark Westaway, Suzanne Danieletto & Lawrence B. Afrin. (2024) Breast Implant Illness May Be Rooted in Mast Cell Activation: A Case-Controlled Retrospective Analysis. Annals of Surgery Open 5:1, pages e398.
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Lawrence B. Afrin, Tania T. Dempsey & Gerhard J. Molderings. (2023) Learned cautions regarding antibody testing in mast cell activation syndrome. Diagnosis 10:4, pages 424-431.
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Leonard B. Weinstock, Renee M. Nelson & Svetlana Blitshteyn. (2023) Neuropsychiatric Manifestations of Mast Cell Activation Syndrome and Response to Mast-Cell-Directed Treatment: A Case Series. Journal of Personalized Medicine 13:11, pages 1562.
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Dana Mihaela Mihele, Paul Andrei Nistor, Gabriela Bruma, Cristina Iulia Mitran, Madalina Irina Mitran, Carmen Elena Condrat, Mihaela Tovaru, Mircea Tampa & Simona Roxana Georgescu. (2023) Mast Cell Activation Syndrome Update—A Dermatological Perspective. Journal of Personalized Medicine 13:7, pages 1116.
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Leonard B. Weinstock, Jill B. Brook & Gerhard J. Molderings. (2022) Efficacy and toxicity of hydroxyurea in mast cell activation syndrome patients refractory to standard medical therapy: retrospective case series. Naunyn-Schmiedeberg's Archives of Pharmacology 395:11, pages 1441-1447.
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Gaber El-Saber Batiha, Hayder M. Al-kuraishy, Ali I. Al-Gareeb & Nermeen N. Welson. (2022) Pathophysiology of Post-COVID syndromes: a new perspective. Virology Journal 19:1.
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Thomas Buttgereit, Sophie Gu, Leonor Carneiro‐Leão, Annika Gutsche, Marcus Maurer & Frank Siebenhaar. (2022) Idiopathic mast cell activation syndrome is more often suspected than diagnosed—A prospective real‐life study. Allergy 77:9, pages 2794-2802.
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Lawrence B. Afrin, Tania T. Dempsey & Leonard B. Weinstock. (2022) Post-HPV-Vaccination Mast Cell Activation Syndrome: Possible Vaccine-Triggered Escalation of Undiagnosed Pre-Existing Mast Cell Disease?. Vaccines 10:1, pages 127.
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Lawrence B. Afrin. (2021) Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome . American Journal of Medical Genetics Part C: Seminars in Medical Genetics 187:4, pages 466-472.
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Leonard B. Weinstock, Jill B. Brook, Arthur S. Walters, Ashleigh Goris, Lawrence B. Afrin & Gerhard J. Molderings. (2021) Mast cell activation symptoms are prevalent in Long-COVID. International Journal of Infectious Diseases 112, pages 217-226.
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Javier I. Muñoz-González, Andrés C. García-Montero, Alberto Orfao & Iván Álvarez-Twose. (2021) Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders. Annals of Allergy, Asthma & Immunology 127:4, pages 427-434.
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Nathalie Vacheron, Tracy McClinton, Donna J. Lynch-Smith & Reba Umberger. (2021) Mast cell activation syndrome. Journal of the American Association of Nurse Practitioners 33:7, pages 545-552.
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Vanessa S. Tamlin, Cynthia D. K. Bottema, Michelle L. Campbell‐Ward, Daren Hanshaw & Anne E. Peaston. (2021) KIT mutations in mast cell tumours from cheetahs ( Acinonyx jubatus ) and domestic cats ( Felis catus ) . Veterinary and Comparative Oncology 19:2, pages 381-392.
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Lawrence B. Afrin, Mary B. Ackerley, Linda S. Bluestein, Joseph H. Brewer, Jill B. Brook, Ariana D. Buchanan, Jill R. Cuni, William P. Davey, Tania T. Dempsey, Shanda R. Dorff, Martin S. Dubravec, Alena G. Guggenheim, Kimberly J. Hindman, Bruce Hoffman, David L. Kaufman, Stephanie J. Kratzer, Theodore M. Lee, Mindy S. Marantz, Andrew J. Maxwell, Kelly K. McCann, Dwight L. McKee, Laurie Menk Otto, Laura A. Pace, Dahra D. Perkins, Laurie Radovsky, Mary S. Raleigh, Sonia A. Rapaport, Emma J. Reinhold, Mark L. Renneker, William A. Robinson, Aaron M. Roland, E. Scott Rosenbloom, Peter C. Rowe, Ilene S. Ruhoy, David S. Saperstein, David A. Schlosser, Jill R. Schofield, Janet E. Settle, Leonard B. Weinstock, Martina Wengenroth, Mark Westaway, Shijun Cindy Xi & Gerhard J. Molderings. (2021) Diagnosis of mast cell activation syndrome: a global “consensus-2”. Diagnosis 8:2, pages 137-152.
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Leonard B. Weinstock, Laura A. Pace, Ali Rezaie, Lawrence B. Afrin & Gerhard J. Molderings. (2020) Mast Cell Activation Syndrome: A Primer for the Gastroenterologist. Digestive Diseases and Sciences 66:4, pages 965-982.
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Elena-Simona Boldeanu, Mădălina Avram & Lucian Rezmeriţă. (2021) Mast cell activation syndrome — clinical presentation and diagnostic criteria. Alergologia 1:5, pages 7.
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Lawrence B. Afrin, Leonard B. Weinstock & Gerhard J. Molderings. (2020) Covid-19 hyperinflammation and post-Covid-19 illness may be rooted in mast cell activation syndrome. International Journal of Infectious Diseases 100, pages 327-332.
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Andréia Neves Comodo-Navarro, Mariana Fernandes, Denise Barcelos, Fernando Cintra Lopes Carapeto, Daiane Pereira Guimarães, Lais de Sousa MoraesJanete CeruttiEdna Sadayo Miazato Iwamura & Gilles Landman. (2020) Intratumor Heterogeneity of KIT Gene Mutations in Acral Lentiginous Melanoma. The American Journal of Dermatopathology 42:4, pages 265-271.
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Leonard B. WeinstockArthur S. WaltersJill B. BrookZahid KaleemLawrence B. AfrinGerhard J. Molderings. (2020) Restless legs syndrome is associated with mast cell activation syndrome. Journal of Clinical Sleep Medicine 16:3, pages 401-408.
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Jill R. Schofield & Lawrence B. Afrin. (2019) Recognition and Management of Medication Excipient Reactivity in Patients With Mast Cell Activation Syndrome. The American Journal of the Medical Sciences 357:6, pages 507-511.
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Dong Chen & Tracy I. George. 2018. Hematopathology. Hematopathology 617 641.e4 .
Janine Altmüller, Britta Haenisch, Amit Kawalia, Markus Menzen, Markus M. Nöthen, Heide Fier & Gerhard J. Molderings. (2017) Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics 69:6, pages 359-369.
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Gerhard J. Molderings, Thomas Zienkiewicz, Jürgen Homann, Markus Menzen & Lawrence B. Afrin. (2017) Risk of solid cancer in patients with mast cell activation syndrome: Results from Germany and USA. F1000Research 6, pages 1889.
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Harvinder Virk, Greer Arthur & Peter Bradding. (2016) Mast cells and their activation in lung disease. Translational Research 174, pages 60-76.
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Lawrence B. Afrin. (2016) Mast cell activation disease and the modern epidemic of chronic inflammatory disease. Translational Research 174, pages 33-59.
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Gerhard J. Molderings. (2016) Transgenerational transmission of systemic mast cell activation disease—genetic and epigenetic features. Translational Research 174, pages 86-97.
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Ulrich W. Kolck, Britta Haenisch & Gerhard J. Molderings. (2016) Cardiovascular symptoms in patients with systemic mast cell activation disease. Translational Research 174, pages 23-32.e1.
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Gerhard J. Molderings, Britta Haenisch, Stefan Brettner, Jürgen Homann, Markus Menzen, Franz Ludwig Dumoulin, Jens Panse, Joseph Butterfield & Lawrence B. Afrin. (2016) Pharmacological treatment options for mast cell activation disease. Naunyn-Schmiedeberg's Archives of Pharmacology 389:7, pages 671-694.
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Anupam Aich, Lawrence Afrin & Kalpna Gupta. (2015) Mast Cell-Mediated Mechanisms of Nociception. International Journal of Molecular Sciences 16:12, pages 29069-29092.
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Lawrence B. Afrin, Dieter Pöhlau, Martin Raithel, Britta Haenisch, Franz L. Dumoulin, Juergen Homann, Uwe M. Mauer, Sabrina Harzer & Gerhard J. Molderings. (2015) Mast cell activation disease: An underappreciated cause of neurologic and psychiatric symptoms and diseases. Brain, Behavior, and Immunity 50, pages 314-321.
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Lawrence B. Afrin & Alexander Khoruts. (2015) Mast Cell Activation Disease and Microbiotic Interactions. Clinical Therapeutics 37:5, pages 941-953.
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Gerhard J. Molderings. (2015) The genetic basis of mast cell activation disease - looking through a glass darkly. Critical Reviews in Oncology/Hematology 93:2, pages 75-89.
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Lawrence B. Afrin. (2014) Mast Cell Activation Syndrome as a Significant Comorbidity in Sickle Cell Disease. The American Journal of the Medical Sciences 348:6, pages 460-464.
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A. Matito, I. Alvarez-Twose, J. M. Morgado, L. Sánchez-Muñoz, A. Orfao & L. Escribano. (2014) Anaphylaxis as a Clinical Manifestation of Clonal Mast Cell Disorders. Current Allergy and Asthma Reports 14:8.
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Glenn Cruse, Dean D. Metcalfe & Ana Olivera. (2014) Functional Deregulation of KIT. Immunology and Allergy Clinics of North America 34:2, pages 219-237.
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Britta Haenisch, Holger Fröhlich, Stefan Herms & Gerhard J. Molderings. (2014) Evidence for contribution of epigenetic mechanisms in the pathogenesis of systemic mast cell activation disease. Immunogenetics 66:5, pages 287-297.
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Lawrence B Afrin. (2013) Utility of hydroxyurea in mast cell activation syndrome. Experimental Hematology & Oncology 2:1.
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Bengt Phung, Eiríkur Steingrímsson & Lars Rönnstrand. (2013) Differential activity of c-KIT splice forms is controlled by extracellular peptide insert length. Cellular Signalling 25:11, pages 2231-2238.
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Eunice Ching Chan, Yun Bai, Geethani Bandara, Olga Simakova, Erica Brittain, Linda Scott, Kimberly D. Dyer, Amy D. Klion, Irina Maric, Alasdair M. Gilfillan, Dean D. Metcalfe & Todd M. Wilson. (2013) KIT GNNK splice variants: Expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells. Experimental Hematology 41:10, pages 870-881.e2.
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Gerhard J. Molderings, Britta Haenisch, Manuela Bogdanow, Rolf Fimmers & Markus M. Nöthen. (2013) Familial Occurrence of Systemic Mast Cell Activation Disease. PLoS ONE 8:9, pages e76241.
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B. Haenisch, S. Herms & G. J. Molderings. (2013) The transcriptome of the human mast cell leukemia cells HMC-1.2: an approach to identify specific changes in the gene expression profile in KitD816V systemic mastocytosis. Immunologic Research 56:1, pages 155-162.
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Britta Haenisch, Michael Huber, Thomas Wilhelm, Michael Steffens & Gerhard J. Molderings. (2013) Investigation into mechanisms mediating the inhibitory effect of 1,4-benzodiazepines on mast cells by gene expression profiling. Life Sciences 92:6-7, pages 345-351.
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Juan-Carlos Cardet, Mariana C. Castells & Matthew J. Hamilton. (2012) Immunology and Clinical Manifestations of Non-Clonal Mast Cell Activation Syndrome. Current Allergy and Asthma Reports 13:1, pages 10-18.
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Kristina Hoffmann, Rosa Altarcheh Xifró, Julia Lisa Hartweg, Petra Spitzlei, Kirsten Meis, Gerhard J. Molderings & Ivar von Kügelgen. (2013) Inhibitory effects of benzodiazepines on the adenosine A2B receptor mediated secretion of interleukin-8 in human mast cells. European Journal of Pharmacology 700:1-3, pages 152-158.
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Britta Haenisch, Markus M. Nöthen & Gerhard J. Molderings. (2012) Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology 137:3, pages 197-205.
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Johan Lennartsson & Lars Rönnstrand. (2012) Stem Cell Factor Receptor/c-Kit: From Basic Science to Clinical Implications. Physiological Reviews 92:4, pages 1619-1649.
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Charles M Rudin, Steffen Durinck, Eric W Stawiski, John T Poirier, Zora Modrusan, David S Shames, Emily A Bergbower, Yinghui Guan, James Shin, Joseph Guillory, Celina Sanchez Rivers, Catherine K Foo, Deepali Bhatt, Jeremy Stinson, Florian Gnad, Peter M Haverty, Robert Gentleman, Subhra Chaudhuri, Vasantharajan Janakiraman, Bijay S Jaiswal, Chaitali Parikh, Wenlin Yuan, Zemin Zhang, Hartmut Koeppen, Thomas D Wu, Howard M Stern, Robert L Yauch, Kenneth E Huffman, Diego D Paskulin, Peter B Illei, Marileila Varella-Garcia, Adi F Gazdar, Frederic J de Sauvage, Richard Bourgon, John D Minna, Malcolm V Brock & Somasekar Seshagiri. (2012) Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. Nature Genetics 44:10, pages 1111-1116.
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Dong Chen & Chin-Yang Li. 2012. Hematopathology. Hematopathology 588 611 .
Gerhard J Molderings, Stefan Brettner, Jürgen Homann & Lawrence B Afrin. (2011) Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. Journal of Hematology & Oncology 4:1.
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Britta Haenisch, Heinz Bönisch, Sven Cichon, Jean-Pierre Allam, Natalija Novak & Gerhard J. Molderings. (2011) Effects of exogenous agmatine in human leukemia HMC-1 and HL-60 cells on proliferation, polyamine metabolism and cell cycle. Leukemia Research 35:9, pages 1248-1253.
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Gerhard J. Molderings, Martin Raithel, Felix Kratz, Marc Azemar, Britta Haenisch, Sabrina Harzer & Jürgen Homann. (2011) Omalizumab Treatment of Systemic Mast Cell Activation Disease: Experiences from Four Cases. Internal Medicine 50:6, pages 611-615.
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Cem Akin, Peter Valent & Dean D. Metcalfe. (2010) Mast cell activation syndrome: Proposed diagnostic criteria. Journal of Allergy and Clinical Immunology 126:6, pages 1099-1104.e4.
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Gerhard J. Molderings, Kirsten Meis, Ulrich W. Kolck, Jürgen Homann & Thomas Frieling. (2010) Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. Immunogenetics 62:11-12, pages 721-727.
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Robert P. Erickson. (2010) Somatic gene mutation and human disease other than cancer: An update. Mutation Research/Reviews in Mutation Research 705:2, pages 96-106.
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Jürgen Homann, Ulrich W. Kolck, Andreas Ehnes, Thomas Frieling, Martin Raithel & Gerhard J. Molderings. (2010) Die systemische Mastozytose – Standortbestimmung einer internistischen ErkrankungSystemic Mastocytosis – Definition of an Internal Disease. Medizinische Klinik 105:8, pages 544-553.
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Lawrence B. Afrin. (2010) Mast cell activation disorder masquerading as pure red cell aplasia. International Journal of Hematology 91:5, pages 907-908.
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Bruce Gottlieb, Lenore K. Beitel, Carlos Alvarado & Mark A. Trifiro. (2010) Selection and mutation in the “new” genetics: an emerging hypothesis. Human Genetics 127:5, pages 491-501.
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Gerhard J. Molderings, Gerold Solleder, Ulrich W. Kolck, Jürgen Homann, Detlev Schröder, Ivar von Kügelgen & Roland Vorreuther. (2009) Ureteral stones due to systemic mastocytosis: diagnostic and therapeutic characteristics. Urological Research 37:4, pages 227-229.
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Bruce Gottlieb, Lorraine E. Chalifour, Benjamin Mitmaker, Nathan Sheiner, Daniel Obrand, Cherrie Abraham, Melissa Meilleur, Tomoko Sugahara, Ghassan Bkaily & Morris Schweitzer. (2009) BAK1 gene variation and abdominal aortic aneurysms. Human Mutation 30:7, pages 1043-1047.
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Kirsten Alfter, Ivar Von Kügelgen, Britta Haenisch, Thomas Frieling, Alexandra Hülsdonk, Ulrike Haars, Arndt Rolfs, Gerhard Noe, Ulrich W. Kolck, Jürgen Homann & Gerhard J. Molderings. (2009) New aspects of liver abnormalities as part of the systemic mast cell activation syndrome. Liver International 29:2, pages 181-186.
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William S. Oetting. (2008) Large scale DNA sequencing: new challenges emerge-the 2007 Human Genome Variation Society scientific meeting. Human Mutation 29:5, pages 765-768.
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