Associated Papers
Transmembrane Protein 43: Molecular and Pathogenetic Implications in Arrhythmogenic Cardiomyopathy and Various Other Diseases.
Orgil BO et al.
International Journal of Molecular Sciences, 2025
Overexpression of Wild-Type TMEM43 Improves Cardiac Function in Arrhythmogenic Right Ventricular Cardiomyopathy Type 5.
Lalaguna L et al.
Circulation Research, 2025
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation Journal, 2023
37653714 (PubMed )
Supplement: kcj-53-693-s007.xls › kcj-53-693-s007
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins
Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
Zink M et al.
International Journal of Molecular Sciences, 2022
Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.
Gu Q et al.
Physiological Genomics, 2022
Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure.
Saito T et al.
Esc Heart Failure, 2021
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
Sun Y et al.
Journal of Neurology, 2019
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
Liang WC et al.
Annals of Neurology, 2011
Select a paper to view details