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Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.
Gregor, Anne; Zweier, Christiane.
Afiliación
  • Gregor A; University of Bern Department of Human Genetics Inselspital Bern 3010 Bern Switzerland.
  • Zweier C; Department of Human Genetics Inselspital Bern 3010 Bern Switzerland.
Med Genet ; 36(2): 121-131, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38854643
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Med Genet Año: 2024 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Med Genet Año: 2024 Tipo del documento: Article