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Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome.
- J. Cools, D. DeAngelo, D. Gilliland
- Medicine, BiologyThe New England journal of medicine
- 27 March 2003
The acquisition of a T674I resistance mutation at the time of relapse demonstrates that FIP1L1-PDGFRalpha is the target of imatinib, and data indicate that the deletion of genetic material may result in gain-of-function fusion proteins.
Gene prioritization through genomic data fusion
A bioinformatics approach, together with a freely accessible, interactive and flexible software termed Endeavour, to prioritize candidate genes underlying biological processes or diseases, based on their similarity to known genes involved in these phenomena, offers an alternative integrative method for gene discovery.
Allele-specific copy number analysis of tumors
- P. Van Loo, Silje H. Nordgard, V. Kristensen
- BiologyProceedings of the National Academy of Sciences
- 13 September 2010
A genome-wide map of allelic skewness in breast cancer is constructed, indicating loci where one allele is preferentially lost, whereas the other allele isPreferentially gained, and it is hypothesized that these alternative alleles have a different influence on breast carcinoma development.
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
- H. Van Esch, M. Bauters, G. Froyen
- Biology, MedicineAmerican journal of human genetics
- 1 September 2005
It is demonstrated that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype, which justifies quantitative screening of MECP2 in this group of patients.
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia.
JAK2 plays a central role in non-protein tyrosine kinase receptor signaling pathways, which could explain its involvement in malignancies of different hematologic lineages and in Drosophila no member of the JAK family has yet been implicated in tumorigenesis.
T cell antigen receptor stimulation induces MALT1 paracaspase–mediated cleavage of the NF-κB inhibitor A20
It is shown that T cell antigen receptor stimulation induced recruitment of the NF-κB inhibitor A20 into a complex of MALT1 and the adaptor protein Bcl-10, leading to MALT 1-mediated processing of A20, and Malt1 cleaved human A20 after arginine 439 and impaired its NF-kkB-inhibitory function.
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype
G germline loss-of-function mutations in SPRED1 in a newly identified autosomal dominant human disorder are reported, the first report of mutations in the SPRY (SPROUTY)/SPRED family of genes in human disease.
Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia
The extrachromosomal (episomal) amplification of ABL1 in 5 of 90 individuals with T-ALL, an aberration that is not detectable by conventional cytogenetics, is described and a previously undescribed mechanism for activation of tyrosine kinases in cancer: the formation of episomes resulting in a fusion between NUP214 and A BL1 is identified.
The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomas.
It is shown that the API2 gene, encoding an inhibitor of apoptosis also known as c-IAP2, HIAP1, and MIHC, and a novel gene on 18q21 characterized by several Ig-like C2-type domains, named MLT, are recurrently rearranged in the t(11;18).