Associated Papers
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
38666070 (PubMed )
Supplement: 44161_2023_346_MOESM1_ESM.pdf
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing.
Ghasemi S et al.
Bmc Medical Genomics, 2022
Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosis.
Al-Yacoub N et al.
Communications Biology, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Proteasome dysfunction in cardiomyopathies.
Gilda JE et al.
The Journal of Physiology, 2017
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
Al-Hassnan ZN et al.
Bmc Medical Genetics, 2016
FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.
Al-Yacoub N et al.
Genome Biology, 2016
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