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Article

Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects.

Disease models & mechanisms - 1 Jun 2024

Berger Hanna, Gerstner Sarah, Horstmann Marc-Frederik, Pauli Silke, Borchers Annette

Abstract excerpt

De novo truncating variants in fibrosin-like 1 (FBRSL1), a member of the AUTS2 gene family, cause a disability syndrome, including organ malformations such as heart defects. Here, we use Xenopus laevis to investigate whether Fbrsl1 plays a role in heart development. Xenopus laevis fbrsl1 is expressed in tissues relevant for heart development, and morpholino-mediated knockdown of Fbrsl1 results in severely...

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Share to Gene Expression Regulation, Developmental
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

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Source

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Identifiers

PMID: 38501224
DOI: 10.1242/dmm.050507
PMCID: PMC11128277

Genes

FBRSL1
AUTS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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