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Updated: Sep 15, 2025

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RetiGene是一份针对遗传性视网膜疾病 (IRDs) 的综合基因图谱

Mathieu Quinodoz1,2,3, Elifnaz Celik1,2, Dhryata Kamdar1,2

  • 1Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, 4031, Switzerland.

bioRxiv : the preprint server for biology
|July 15, 2025
PubMed
概括

遗传性视网膜疾病 (IRD) 是一种罕见的遗传性疾病,导致视力丧失. 新的基因图谱RetiGene通过整合各种数据来帮助诊断和研究,以便在IRD中更好地发现基因和进行功能研究.

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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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