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

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI:10.1515/medgen-2024-2020

Anne Gregor, Christiane Zweier

引用次数: 0

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.

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在不同系统中模拟综合征疾病的表型、变异和病理机制。

在这篇综述中，我们介绍了常用于研究综合症的不同模式生物和系统。我们阐明了疾病建模的不同用例、潜在的病理机制以及某些变异的具体影响。我们还强调了不同系统的优势和局限性。讨论的模型包括芽殖酵母、线虫、果蝇、青蛙、斑马鱼、小鼠和基于人类细胞的系统。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Medizinische Genetik GENETICS & HEREDITY-

自引率

9.10%

发文量

期刊介绍： medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.

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