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在不同系统中对综合征性疾病的表型、变异和病理机制进行建模。

Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.

作者信息

Gregor Anne, Zweier Christiane

机构信息

University of Bern Department of Human Genetics Inselspital Bern 3010 Bern Switzerland.

Department of Human Genetics Inselspital Bern 3010 Bern Switzerland.

出版信息

Med Genet. 2024 Jun 6;36(2):121-131. doi: 10.1515/medgen-2024-2020. eCollection 2024 Jun.

DOI:10.1515/medgen-2024-2020
PMID:38854643
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11154186/
Abstract

In this review we describe different model organisms and systems that are commonly used to study syndromic disorders. Different use cases in modeling diseases, underlying pathomechanisms and specific effects of certain variants are elucidated. We also highlight advantages and limitations of different systems. Models discussed include budding yeast, the nematode worm, the fruit fly, the frog, zebrafish, mice and human cell-based systems.

摘要

在本综述中，我们描述了常用于研究综合征性疾病的不同模式生物和系统。阐述了疾病建模、潜在病理机制以及某些变异的特定效应方面的不同用例。我们还强调了不同系统的优缺点。所讨论的模型包括芽殖酵母、线虫、果蝇、青蛙、斑马鱼、小鼠以及基于人类细胞的系统。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288d/11154186/2f746ce94563/j_medgen-2024-2020_cv_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288d/11154186/1971f8969efc/j_medgen-2024-2020_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288d/11154186/88fe48b9505b/j_medgen-2024-2020_cv_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288d/11154186/2f746ce94563/j_medgen-2024-2020_cv_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288d/11154186/1971f8969efc/j_medgen-2024-2020_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288d/11154186/88fe48b9505b/j_medgen-2024-2020_cv_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/288d/11154186/2f746ce94563/j_medgen-2024-2020_cv_001.jpg

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Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004.
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Rodent Models of Huntington's Disease: An Overview.亨廷顿舞蹈症的啮齿动物模型：综述
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