Associated Papers
Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy.
Matos J et al.
Radiology. Cardiothoracic Imaging, 2023
38166344 (PubMed )
Supplement: ryct230155suppa1.pdf
Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.
Gu Q et al.
Physiological Genomics, 2022
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Jang MW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation.
Doñate Puertas R et al.
Biomed Research International, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
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
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
Begay RL et al.
Jacc. Basic to Translational Science, 2016
28008423 (PubMed )
Supplement: mmc1.pdf
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H et al.
European Heart Journal, 2015
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
Baskin B et al.
Human Genetics, 2013
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
Haywood AF et al.
European Heart Journal, 2013
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