Associated Papers
Cardiomyopathy-associated and basic residue mutations in myopalladin alter actin binding, bundling, and structural stability.
Arachchige AR et al.
Protein Science : a Publication of the Protein Society, 2026
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
40076866 (PubMed )
Supplement: ijms-26-02244-s001.zip › ijms-3484719-supplementary.xlsx › data_1
Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients.
Mester B et al.
Life (basel, Switzerland), 2025
40003559 (PubMed )
Supplement: life-15-00150-s001.zip › Supplementary_Material_S1.pdf
Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.
Bertucci F et al.
Journal of Translational Medicine, 2024
39465437 (PubMed )
Supplement: 12967_2024_5790_MOESM2_ESM.xlsx › Table_S2
Mutational landscape of inflammatory breast cancer.
Bertucci F et al.
Journal of Translational Medicine, 2024
38637846 (PubMed )
Supplement: 12967_2024_5198_MOESM2_ESM.xlsx › Table_S2
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
Meyer T et al.
European Journal of Human Genetics : Ejhg, 2013
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