ArticleScientific reports2014
Down syndrome-associated haematopoiesis abnormalities created by chromosome transfer and genome editing technologies.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Actively transcribed rDNA and distal junction (DJ) sequence are involved in association of NORs with nucleoli.Cellular and molecular life sciences : CMLS · 2023Article
- Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders.Scientific reports · 2022Article
- Panel of human cell lines with human/mouse artificial chromosomes.Scientific reports · 2022Article
- Highly Efficient Microcell-Mediated Transfer of HACs Containing a Genomic Region of Interest into Mammalian Cells.Current protocols · 2021Article
- N-Acetylcysteine prevents amyloid-β secretion in neurons derived from human pluripotent stem cells with trisomy 21.Scientific reports · 2021Article
- Elucidation of the Pathogenesis of Autoinflammatory Diseases Using iPS Cells.Children (Basel, Switzerland) · 2021Review
- Somatic Sex: On the Origin of Neoplasms With Chromosome Counts in Uneven Ploidy Ranges.Frontiers in cell and developmental biology · 2021Article
- Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome.Frontiers in oncology · 2021Review
- Article
- Modeling Transient Abnormal Myelopoiesis Using Induced Pluripotent Stem Cells and CRISPR/Cas9 Technology.Molecular therapy. Methods & clinical development · 2020Article
- Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells.Frontiers in cellular neuroscience · 2020Article
- Variation in human chromosome 21 ribosomal RNA genes characterized by TAR cloning and long-read sequencing.Nucleic acids research · 2018Article
- Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome.American journal of clinical pathology · 2018Article
- Combinations of chromosome transfer and genome editing for the development of cell/animal models of human disease and humanized animal models.Journal of human genetics · 2018Review
- CRISPR/Cas9-induced transgene insertion and telomere-associated truncation of a single human chromosome for chromosome engineering in CHO and A9 cells.Scientific reports · 2017Article
- Genome editing: a robust technology for human stem cells.Cellular and molecular life sciences : CMLS · 2017Review
- Site-Specific Genome Engineering in Human Pluripotent Stem Cells.International journal of molecular sciences · 2016Review
- Moving toward a higher efficiency of microcell-mediated chromosome transfer.Molecular therapy. Methods & clinical development · 2016Article
- Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus.The Journal of clinical investigation · 2015Article
- A pathway from chromosome transfer to engineering resulting in human and mouse artificial chromosomes for a variety of applications to bio-medical challenges.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2015Review
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infants with Down syndrome (DS) are at a high risk of developing transient abnormal myelopoiesis (TAM). A GATA1 mutation leading to the production of N-terminally truncated GATA1 (GATA1s) in early megakaryocyte/erythroid progenitors is linked to the onset of TAM and cooperated with the effect of trisomy 21 (Ts21). To gain insights into the underlying mechanisms of the progression to TAM in DS patients, we generated human pluripotent stem cells harbouring Ts21 and/or GATA1s by combining microcell-mediated chromosome transfer and genome editing technologies. In vitro haematopoietic differentiation assays showed that the GATA1s mutation blocked erythropoiesis irrespective of an extra chromosome 21, while Ts21 and the GATA1s mutation independently perturbed megakaryopoiesis and the combination of Ts21 and the GATA1s mutation synergistically contributed to an aberrant accumulation of skewed megakaryocytes. Thus, the DS model cells generated by these two technologies are useful in assessing how GATA1s mutation is involved in the onset of TAM in patients with DS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.