Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems-Reference-Cited by-同舟云学术

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

Published:2024-06-05 Issue:2 Volume:36 Page:121-131
ISSN:1863-5490
Container-title:Medizinische Genetik
language:en
Short-container-title:

Author:

Gregor Anne¹^ORCID,Zweier Christiane²^ORCID

Affiliation:

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

2. Department of Human Genetics Inselspital Bern Bern Switzerland

Abstract

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.

Publisher

Walter de Gruyter GmbH

Link

https://www.degruyter.com/document/doi/10.1515/medgen-2024-2020/pdf

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