Review papers The role of KIT gene mutations in pathogenesis of pediatric mastocytosis
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[1] J. Yin,et al. A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family , 2014, Clinical and experimental dermatology.
[2] A. Bellizzi,et al. Identification of KIT activating mutations in paediatric solitary mastocytoma , 2014, Histopathology.
[3] C. Bindslev‐Jensen,et al. KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. , 2013, The Journal of allergy and clinical immunology.
[4] A. Balcerska,et al. Systemic mastocytosis in children - therapeutic problems. , 2013, Medycyna wieku rozwojowego.
[5] A. Bracher,et al. A c-kit mutation in exon 18 in familial mastocytosis. , 2013, The Journal of investigative dermatology.
[6] P. Dubreuil,et al. Imatinib mesylate in the treatment of diffuse cutaneous mastocytosis. , 2013, The Journal of pediatrics.
[7] N. Nakamura,et al. Systemic mastocytosis associated with t(8;21) acute myeloid leukemia in a child: Detection of the D816A mutation of KIT , 2012, Pediatric blood & cancer.
[8] B. Nedoszytko,et al. Mastocytosis in children and adults: clinical disease heterogeneity , 2012, Archives of medical science : AMS.
[9] A. Pardanani. Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management , 2012, American journal of hematology.
[10] W. Biernat,et al. Diffuse cutaneous mastocytosis: analysis of 10 cases and a brief review of the literature , 2011, Journal of the European Academy of Dermatology and Venereology : JEADV.
[11] A. Diem,et al. Diffuse Cutaneous Mastocytosis Masquerading as Epidermolysis Bullosa , 2011, Pediatric dermatology.
[12] C. Akin,et al. Tyrosine kinase inhibitors in the treatment of systemic mastocytosis. , 2011, Leukemia research.
[13] D. Metcalfe,et al. Diagnosis and Treatment of Cutaneous Mastocytosis in Children , 2011, American journal of clinical dermatology.
[14] A. Piskorz,et al. Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. , 2011, Experimental hematology.
[15] S. Friedlander. Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations , 2011 .
[16] F. Bertucci,et al. Pediatric mastocytosis-associated KIT extracellular domain mutations exhibit different functional and signaling properties compared with KIT-phosphotransferase domain mutations. , 2010, Blood.
[17] P. Valent,et al. Pathogenesis, classification and treatment of mastocytosis: state of the art in 2010 and future perspectives , 2010, Expert review of hematology.
[18] S. Pasmans,et al. Clinical Aspects of Diffuse Cutaneous Mastocytosis in Children: Two Variants , 2009, Dermatology.
[19] C. Urban,et al. Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation. , 2008, Blood.
[20] Olivier Hermine,et al. Phenotypic and Genotypic Characteristics of Mastocytosis According to the Age of Onset , 2008, PloS one.
[21] J. Vardiman,et al. The identification and characterisation of novel KIT transcripts in aggressive mast cell malignancies and normal CD34+ cells , 2008, Leukemia & lymphoma.
[22] D. Fabbro,et al. Synergistic growth-inhibitory effects of two tyrosine kinase inhibitors, dasatinib and PKC412, on neoplastic mast cells expressing the D816V-mutated oncogenic variant of KIT , 2007, Haematologica.
[23] A. Órfão,et al. Recent advances in the understanding of mastocytosis: the role of KIT mutations * , 2007, British journal of haematology.
[24] S. Hirota,et al. Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation , 2007, Laboratory Investigation.
[25] R. V. van Schaik,et al. C-kit Asp-816-Val Mutation Analysis in Patients with Mastocytosis , 2006, Dermatology.
[26] A. Órfão,et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. , 2006, Blood.
[27] C. Akin. Molecular diagnosis of mast cell disorders: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. , 2006, The Journal of molecular diagnostics : JMD.
[28] T. Lister,et al. A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. , 2006, Leukemia research.
[29] D. Fabbro,et al. PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816V-mutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2CdA) and evaluation of cooperative drug effects. , 2006, Blood.
[30] E. Wardelmann,et al. Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. , 2005, Gastroenterology.
[31] Koichiro Nakamura,et al. c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. , 2005, The Journal of molecular diagnostics : JMD.
[32] K. Sotlar,et al. Mastocytosis: Pathology, genetics, and current options for therapy , 2005, Leukemia & lymphoma.
[33] A. Burden,et al. A germline mutation in KIT in familial diffuse cutaneous mastocytosis , 2004, Journal of Medical Genetics.
[34] Cem Akin,et al. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. , 2004, Blood.
[35] B. Longley,et al. Effects of tyrosine kinase inhibitor STI571 on human mast cells bearing wild-type or mutated c-kit. , 2003, Experimental hematology.
[36] C. Bueso-Ramos,et al. Systemic mastocytosis with associated clonal hematological non‐mast‐cell lineage disease: Analysis of clinicopathologic features and activating c‐kit mutations , 2003, American journal of hematology.
[37] U. Lass,et al. One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. , 2003, The American journal of pathology.
[38] Shan Zeng,et al. The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. , 2002, Blood.
[39] C. Capella,et al. Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa , 2001, Cancer.
[40] D. Metcalfe,et al. Mastocytosis: molecular mechanisms and clinical disease heterogeneity. , 2001, Leukemia research.
[41] P. Valent,et al. Mutation analysis of C‐KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis , 2001, British journal of haematology.
[42] D. Heitjan,et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[43] N. Sepp,et al. Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behavior. , 1998, The Journal of investigative dermatology.
[44] W. Vainchenker,et al. A new c‐kit mutation in a case of aggressive mast cell disease , 1997, British journal of haematology.
[45] Y. Suzuki,et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[46] L. Ashman,et al. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. , 1993, The Journal of clinical investigation.