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A case of glioneuronal tumour with ATRX alteration, kinase fusion and anaplastic features showing rapid ependymal and leptomeningeal dissemination.
Neuropathol Appl Neurobiol
August 2024
Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer.
Arch Pathol Lab Med
February 2025
From the Department of Medical and Molecular Genetics (Booth, Smith, Stohler, Vance), Center for Computational Biology and Bioinformatics, Department of Medical and Molecular Genetics (Gao, Liu), and the Department of Pathology and Laboratory Medicine (Vance), Indiana University School of Medicine, Indianapolis.
Context.—: Pediatric B-cell acute lymphoblastic leukemia is genetically and phenotypically heterogeneous, with a genetic landscape including chromosomal translocations that disrupt ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1).
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Dasatinib for chronic myelomonocytic leukemia with ZMIZ1-ABL1 fusion gene: a case report.
Int J Hematol
June 2023
Department of Hematology, the 940th Hospital of Joint Logistics Support Force of the Chinese People's Liberation Army, 333 South Binhe Middle Road, Lanzhou, 730050, China.
The fusion gene ZMIZ1-ABL1 is rare, with only one known case reported in lymphatic system malignancies, and none reported in a myeloid tumor. Here, we report the case of a patient with chronic myelomonocytic leukemia with the ZMIZ1-ABL1 fusion gene. Elevated leukocytes and splenomegaly were the main manifestations.
View Article and Find Full Text PDFSystematic Discovery of FBXW7-Binding Phosphodegrons Highlights Mitogen-Activated Protein Kinases as Important Regulators of Intracellular Protein Levels.
Int J Mol Sci
March 2022
Biomolecular Interactions Research Group, Research Center for Natural Sciences, Institute of Organic Chemistry, H-1117 Budapest, Hungary.
A FBXW7 is an F-box E3 ubiquitin-ligase affecting cell growth by controlling protein degradation. Mechanistically, its effect on its substrates depends on the phosphorylation of degron motifs, but the abundance of these phosphodegrons has not been systematically explored. We used a ratiometric protein degradation assay geared towards the identification of FBXW7-binding degron motifs phosphorylated by mitogen-activated protein kinases (MAPKs).
View Article and Find Full Text PDFA de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
Neurogenetics
October 2015
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, 44340, México.
We report a girl with intellectual disability (ID), neuropsychiatric alterations, and a de novo balanced t(10;19)(q22.3;q13.33) translocation.
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