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Updated: Jun 30, 2026

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综合的基因组分析揭示了ASXL1突变髓状瘤的分子子集

Steven M Johnson1, James Haberberger2, Jonathan Galeotti1

  • 1Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA.

Leukemia & lymphoma
|November 3, 2023
PubMed
概括

这项研究揭示了ASXL1-突变骨髓性疾病中的关键基因突变模式. 特定的共同突变,如ASXL1/SRSF2,影响疾病特征,并表明骨髓性恶性瘤中不同的生物途径.

关键词:
骨髓性白血病和肌肉失调症是什么分子遗传学分子遗传学骨髓扩散性疾病 骨髓扩散性疾病这种新生病 neoplasia.

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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Common myeloid progenitors (CMPs) are oligopotent cells that can differentiate into granulocytes and macrophages. Granulocytes and macrophages are essential for protecting the body against bacterial, viral, or fungal infections. They migrate from the bone marrow into the circulating blood to reach specific tissue sites where they differentiate and help in immune surveillance. However, they survive only for a few days and must be continuously made available to the organism to maintain a robust...