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| http://dx.doi.org/10.5045/br.2018.53.2.102 | DOI Listing |
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Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.
Blood
June 2024
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Transient abnormal myelopoiesis (TAM) is a common complication in newborns with Down syndrome (DS). It commonly progresses to myeloid leukemia (ML-DS) after spontaneous regression. In contrast to the favorable prognosis of primary ML-DS, patients with refractory/relapsed ML-DS have poor outcomes.
View Article and Find Full Text PDFThe abundance of the short GATA1 isoform affects megakaryocyte differentiation and leukemic predisposition in mice.
Exp Hematol Oncol
February 2024
Department of Molecular Hematology, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
Transcription factor GATA1 controls the delicate balance between proliferation, differentiation and apoptosis in both the erythroid and megakaryocytic lineages. In addition to full-length GATA1, there is an GATA1 isoform, GATA1s, that lacks the amino-terminal transactivation domain. Somatic GATA1 mutations that lead to the exclusive production of GATA1s appear to be necessary and sufficient for the development of a preleukemic condition called transient myeloproliferative disorder (TMD) in Down syndrome newborns.
View Article and Find Full Text PDFGeneration of CHOPi-008-B, a euploid iPSC line from a patient with Trisomy 21 and a GATA1 mutation.
Stem Cell Res
October 2023
Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Transient myeloproliferative disorder (TMD) is a pre-leukemic condition that occurs only in neonates with Trisomy 21 (T21), and is attributed to a genetic interaction between the third copy of chromosome 21 (HSA21) and a mutation in the transcription factor GATA1 that results in a truncated protein (GATA1s). We generated a euploid iPSC line with a GATA1s mutation that is isogenic to a previously published pair of T21 lines with and without a GATA1 mutation. The line was characterized for pluripotency, differentiation potential, and genomic stability.
View Article and Find Full Text PDFGeneration of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation.
Stem Cell Res
June 2023
Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.
Trisomy 21 (T21), or Down Syndrome (DS), is a common chromosomal disorder resulting from a third copy of chromosome 21 (HSA21). Transient myeloproliferative disorder (TMD) is a pre-leukemic condition that occurs only in neonates with DS and is characterized by a mutation in the transcription factor GATA1 that results in a truncated protein (GATA1s). We generated a pair of isogenic T21 lines derived from a patient with TMD that differ only in GATA1 status.
View Article and Find Full Text PDFt(1;7;22)(p13;q21;q13) is a novel 3-way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report.
Mol Clin Oncol
March 2023
Department of Pediatric Hematology and Oncology, University Hospitals Leuven, 3000 Leuven, Belgium.
Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL.
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