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Updated: May 10, 2025

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies
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Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies

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一个多功能小鼠Col4a1等位基因揭示了戈尔德综合征的潜在基因治疗参数

Mao Mao1, Yoshihiro Ishikawa1, Cassandre Labelle-Dumais1

  • 1Department of Ophthalmology, University of California San Francisco, San Francisco, CA, USA.

The Journal of cell biology
|April 25, 2025
PubMed
概括

这项研究引入了一种新的小鼠模型,用于在底层膜中跟踪IV型原α1 (COL4A1). 该模型揭示了脑血管中COL4A1的循环,为戈尔德综合征治疗提供了洞察力.

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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells12:04

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相关概念视频

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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