A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

By C. James, V. Ugo, J. L. Couédic, Judith Staerk, F. Delhommeau, C. Lacout, L. Garçon, H. Raslova, R. Berger, A. Bennaceur-Griscelli and 4 more. Nature, 2005

3,352 citations recorded by the source corpus.

Subfields: Genetics, Hematology

View Paper: https://www.semanticscholar.org/paper/6a8ad6e6b16e59b9e0118d061ff7671880a1dd65

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In Genetics

1. J. O’Shea

Citations in the corpus

• The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. (2009, background): “In the case of t(8;21)(q22;q22); RUNX1-RUNX1T1, most published reports indicate a higher relapse rate and lower OS when mutated KIT is present, whereas its impact in the presence of the inv(16)(p13.”
• Mechanisms and consequences of Jak-STAT signaling in the immune system (2017, background): “STAT-binding inhibitory peptides (8), small-molecule STAT inhibitors (9),”
• Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. (2014, neutral): “Neutrophils (10(9)/L) average (range) 9 (2-36) 6 (3-16) 8 (3-21)”
• MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. (2006, neutral): “All patients 1182 735 252 13 447 335 7 MMM 290 198 106 (54) 8 (4) 92 46 (50) 5 (5) De novo NA 159 75 8 NA NA 4 After ET NA 10 8 0 NA NA 1 After PV NA 29 23 0 NA NA n/a ET 318 167 76 (46) 2 (1) 151 106 (70) 2 (1) PV 242 38 38 (100) 0 204 183 (90) 0 AML 126 126 29 (23) 3 (2) 0 n/a n/a With antecedent ”
• Targeting cancer stem cell pathways for cancer therapy (2020, background): “317, 318 Moreover, studies have also found aberrant activation of STATs in human cancers, such as head and neck cancer, 319 endometrial cancer, 320 breast cancer, diffuse large B cell lymphoma, 321 HCC, 322 colorectal cancer, glioma, 323 and colon cancer.”
• JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis. (2012, neutral): “Grade 1 50 (34) 6 (4) 29 (20) 12 (8) 3 (2)”