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Updated: Jun 6, 2026

Isolation, Enrichment, and Maintenance of Medulloblastoma Stem Cells
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带有ELP1病原体变异的髓母细胞瘤:在有限的年龄窗口中具有受限光谱的弱透综合征

Léa Guerrini-Rousseau1,2, Julien Masliah-Planchon3, Mathilde Filser3

  • 1Molecular Predictors and New Targets in Oncology, Inserm U981 Team "Genomics and Oncogenesis of Pediatric Brain Tumors," Gustave Roussy, Université Paris-Saclay, Villejuif, France.

Neuro-oncology advances
|July 4, 2024
PubMed
概括

在ELP1的致病变体与Sonic Hedgehog脑膜母细胞瘤 (SHH-MB) 有关. 对于SHH-MB患者来说,ELP1的遗传查可能是有益的,考虑到透率低和儿童特定的风险.

关键词:
在 ELP1 里,你会看到 ELP1 的位置.癌症倾向综合征是癌症倾向的综合征.脑髓母细胞瘤是什么意思病原性变异是一种病原性变异.

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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,...