Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis

scientific article published on 08 April 2019

Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.EBIOM.2019.03.089
P932PMC publication ID6557764
P698PubMed publication ID30975542

P50authorJoakim S DahlinQ59677319
Maria EkoffQ79984795
Mattias MattssonQ85925915
Rose-Marie AminiQ89897297
Elin RönnbergQ91095166
Jennine GrootensQ91886703
Johanna UngerstedtQ92343190
Gunnar NilssonQ42715569
P2093author name stringMichel Arock
Monika Klimkowska
Stina Söderlund
P2860cites workMast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes.Q54447022
Deciphering the differentiation trajectory from hematopoietic stem cells to mast cellsQ58751494
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 patientsQ61818977
Coexistence of LMPP-like and GMP-like Leukemia Stem Cells in Acute Myeloid LeukemiaQ64008436
Immunoperoxidase and enzyme-histochemical demonstration of human skin tryptase in cutaneous mast cells in normal and mastocytoma skinQ70410812
Eosinophils are derived from the neoplastic clone in patients with systemic mastocytosis and eosinophiliaQ73668248
Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit geneQ74389155
Multilineage involvement and erythropoietin-"independent" erythroid progenitor cells in a patient with systemic mastocytosisQ77603880
Identification of a hierarchy of multipotent hematopoietic progenitors in human cord bloodQ24656265
KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on MastocytosisQ26830207
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemiaQ27853375
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 disorderQ33784323
Prospective isolation of human clonogenic common myeloid progenitorsQ34154606
Restricted dendritic cell and monocyte progenitors in human cord blood and bone marrowQ35161508
Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assayQ35757696
Development of human mast cells from umbilical cord blood cells by recombinant human and murine c-kit ligandQ36070756
Lin- CD34hi CD117int/hi FcεRI+ cells in human blood constitute a rare population of mast cell progenitorsQ36517272
Dendritic cell ontogeny: a human dendritic cell lineage of myeloid originQ36822416
Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteriaQ36835061
Mast cell progenitors: origin, development and migration to tissuesQ38193606
The immunophenotype of mast cells and its utility in the diagnostic work-up of systemic mastocytosisQ38266219
Mastocytosis: 2016 updated WHO classification and novel emerging treatment conceptsQ38777126
CD52 is a molecular target in advanced systemic mastocytosis.Q39001575
A new human mast cell line expressing a functional IgE receptor converts to tumorigenic growth by KIT D816V transfectionQ39010730
Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosisQ39615506
Functional and phenotypic studies of two variants of a human mast cell line with a distinct set of mutations in the c-kit proto-oncogeneQ40678754
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event.Q41612115
Recombinant human stem cell factor stimulates differentiation of mast cells from dispersed human fetal liver cellsQ42814084
Effect of IL-3 and stem cell factor on the appearance of human basophils and mast cells from CD34+ pluripotent progenitor cellsQ42823748
Analysis of the lineage relationship between mast cells and basophils using the c-kit D816V mutation as a biologic signatureQ44438236
KIT signaling is dispensable for human mast cell progenitor developmentQ45085248
Revision of the human hematopoietic tree: granulocyte subtypes derive from distinct hematopoietic lineages.Q45899964
Immunophenotypic analysis of mast cells in mastocytosis: When and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA).Q48013095
Characterization of CD34+ hematopoietic cells in systemic mastocytosis: potential role in disease dissemination.Q50056845
Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment.Q50676184
Induction of differentiation of human mast cells from bone marrow and peripheral blood mononuclear cells by recombinant human stem cell factor/kit-ligand in long-term cultureQ50789055
Detection of the KIT D816V mutation in peripheral blood of systemic mastocytosis: diagnostic implications.Q50900052
Detection of circulating mast cells in advanced systemic mastocytosis.Q51530011
Revised map of the human progenitor hierarchy shows the origin of macrophages and dendritic cells in early lymphoid development.Q51906537
Immunophenotyping in systemic mastocytosis diagnosis: 'CD25 positive' alone is more informative than the 'CD25 and/or CD2' WHO criterion.Q53093872
Mast cells in systemic mastocytosis have distinctly brighter CD45 expression by flow cytometry.Q54284130
P921main subjectsystemic mastocytosisQ3851644
P304page(s)150-158
P577publication date2019-04-08
P1433published inEBioMedicineQ24912341
P1476titleSingle-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis
P478volume43

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cites work (P2860)
Q91886707CD203c distinguishes the erythroid and mast cell-basophil differentiation trajectories among human FcεRI+ bone marrow progenitors
Q91952781The genetics of human hematopoiesis and its disruption in disease

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