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

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)

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

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