Gregor, Anne; Zweier, Christiane (2024). Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems. Medizinische Genetik, 36(2), pp. 121-131. de Gruyter 10.1515/medgen-2024-2020
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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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics |
UniBE Contributor: |
Gregor, Anne, Zweier, Christiane Gertrud |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1863-5490 |
Publisher: |
de Gruyter |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
12 Jun 2024 13:34 |
Last Modified: |
12 Jun 2024 13:48 |
Publisher DOI: |
10.1515/medgen-2024-2020 |
PubMed ID: |
38854643 |
Uncontrolled Keywords: |
Drosophila melanogaster disease modeling hiPSC-based models rodent models zebrafish |
BORIS DOI: |
10.48350/197728 |
URI: |
https://boris.unibe.ch/id/eprint/197728 |