Publications by authors named "Y Hoade"

Germline loss or mutation of one copy of the transcription factor GATA2 in humans leads to a range of clinical phenotypes affecting hematopoietic, lymphatic and vascular systems. GATA2 heterozygous mice show only a limited repertoire of the features observed in humans. Zebrafish have two copies of the Gata2 gene as a result of an additional round of ancestral whole genome duplication.

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Zebrafish provide a unique opportunity for drug screening in living animals, with the fast-developing, transparent embryos allowing for relatively high-throughput, microscopy-based screens. However, the limited availability of rapid, flexible imaging and analysis platforms has limited the use of zebrafish in drug screens. We have developed an easy-to-use, customisable automated screening procedure suitable for high-throughput phenotype-based screens of live zebrafish.

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Myelodysplastic syndrome (MDS) is a hematological malignancy characterized by blood cytopenias and predisposition to acute myeloid leukemia (AML). Therapies for MDS are lacking, particularly those that have an impact in the early stages of disease. We developed a model of MDS in zebrafish with knockout of Rps14, the primary mediator of the anemia associated with del(5q) MDS.

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Article Synopsis
  • - Mastocytosis is a rare blood disorder marked by an excessive number of mast cells, often linked to the KIT D816V mutation found in over 80% of patients.
  • - A genome-wide association study involving 1,035 mastocytosis patients and 17,960 healthy controls identified three significant genetic variants (SNPs) associated with the disease, which could help explain its development.
  • - Analysis revealed that one of these SNPs, rs4616402, influences the expression of a gene important for blood cell development, while the functions of the other two SNPs remain less understood, highlighting potential genetic risk factors for mastocytosis.
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