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A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
TLDR
A clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2) gene in most (> 80%) polycythaemia vera patients leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity and induces erythrocytosis in a mouse model. Expand
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
TLDR
A clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2) gene in most (> 80%) polycythaemia vera patients leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity and induces erythrocytosis in a mouse model. Expand
NB4, a maturation inducible cell line with t(15;17) marker isolated from a human acute promyelocytic leukemia (M3).
TLDR
In vitro and in vivo studies suggest that all-trans retinoic acid (RA) treatment restores cell maturation, and the first permanent cell line with t(15;17), derived from the marrow of a patient with APL in relapse is isolated. Expand
A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia.
TLDR
TEL-induced oligomerization of TEL-JAK2 resulted in the constitutive activation of its tyrosine kinase activity and conferred cytokine-independent proliferation to the interleukin-3-dependent Ba/F3 hematopoietic cell line. Expand
High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
TLDR
It is reported that fusion of TEL to AML1 is specifically observed in at least 16% of the childhood B-lineage acute lymphoblastic leukemia investigated, none of which had been previously identified as harboring t(12;21). Expand
Identification of BTG2, an antiproliferative p53–dependent component of the DNA damage cellular response pathway
TLDR
It is shown that BTG2 expression is induced through a p53-depen-dent mechanism and thatBTG2 function may be relevant to cell cycle control and cellular response to DNA damage. Expand
A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia
TLDR
FISH identified a cryptic t(5;14)(q35;q32) in T acute lymphoblastic leukemia (ALL), whereas it was not observed in B ALL samples, and the Hox11L2 gene was found to be transcriptionally activated as a result of the translocation. Expand
The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion.
TLDR
This translocation fused two genes, tel and AML1, that have previously been described in chromosomal translocations specific for myeloid malignancies, that belong to an increasing number of human genes that are involved in a variety of hematopoietic malignant disorders and can be rearranged with numerous partners. Expand
Structure, localization and transcriptional properties of two classes of retinoic acid receptor alpha fusion proteins in acute promyelocytic leukemia (APL): structural similarities with a new family
TLDR
The characterization of Myl and of the reciprocal MylRAR (PMLRAR) and RARMyl (RARPML) fusion transcripts which are found in two classes of APL patients suggest that MyLRAR may interfere in a dominant manner with both MyL and RAR functions. Expand
The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia.
TLDR
Data indicate that the JAK2V617F allele is present in acute and chronic myeloidmalignancies but not in lymphoid malignancies. Expand
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