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Updated: Jul 15, 2025

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development
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Published on: March 5, 2017

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来自患者的iPSCs的基因组编辑确定了一种深度内基因变异,导致A型血友病的异常拼接

Takafumi Hiramoto1, Hiroshi Inaba2, Nemekhbayar Baatartsogt1

  • 1Department of Biochemistry, Jichi Medical University School of Medicine, Shimotsuke, Tochigi, Japan.

Blood advances
|October 4, 2023
PubMed
概括

研究人员在F8基因中发现了一种深层内部变异,通过异常拼接引起血友病A. 基因组编辑成功恢复了F8mRNA和FVIII因子的产生,提供了新的诊断和治疗方法.

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相关概念视频

Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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RNA Splicing01:32

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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