| Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish. | Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
Zink M, Seewald A, Rohrbach M, Brodehl A, Liedtke D, Williams T, Childs SJ, Gerull B., Free PMC Article | 10/1/2022 |
| A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder. | A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY., Free PMC Article | 12/4/2021 |
| Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy. | Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy.
Shinomiya H, Kato H, Kuramoto Y, Watanabe N, Tsuruda T, Arimura T, Miyashita Y, Miyasaka Y, Mashimo T, Takuwa A, Motooka D, Okuzaki D, Matsuoka K, Tsukamoto O, Hakui H, Yamada N, Lee JK, Kioka H, Kitakaze M, Takashima S, Sakata Y, Asano Y. | 11/13/2021 |
| Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy. | Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy.
Paulin FL, Hodgkinson KA, MacLaughlan S, Stuckless SN, Templeton C, Shah S, Bremner H, Roberts JD, Young TL, Parfrey PS, Connors SP. | 09/4/2021 |
| Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5. | Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
Dominguez F, Zorio E, Jimenez-Jaimez J, Salguero-Bodes R, Zwart R, Gonzalez-Lopez E, Molina P, Bermúdez-Jiménez F, Delgado JF, Braza-Boïls A, Bornstein B, Toquero J, Segovia J, Van Tintelen JP, Lara-Pezzi E, Garcia-Pavia P. | 06/19/2021 |
| Five TMEM43 mutations have been described resulting in clinical phenotype that presents significantly earlier in males, shows biventricular involvement and is characterised by a high incidence of premature Sudden Cardiac Death and severe Heart Failure in survivors. | Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.
Protonotarios A, Elliott PM. | 06/6/2020 |
| Arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations were more likely to have biventricular arrhythmogenic substrate and more inducible ventricular tachycardias. | Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations.
AbdelWahab A, Gardner M, Parkash R, Gray C, Sapp J. | 10/26/2019 |
| TMEM43 deficiency significantly affects colony formation, survival of anoikis-induced cell death, migration and invasion of cancer cells in vitro, as well as tumor progression in vivo. | TMEM43/LUMA is a key signaling component mediating EGFR-induced NF-κB activation and tumor progression.
Jiang C, Zhu Y, Zhou Z, Gumin J, Bengtsson L, Wu W, Songyang Z, Lang FF, Lin X. | 09/16/2017 |
| A very rare mutation in TMEM 43 for the development of Arrhythmogenic cardiomyopathy has a definite connection with desmosomal proteins (plakoglobin) and justifies in a highly arrhythmogenic form of the disease. | Early and late manifestation of Brugada syndrome ECG in arrhythmogenic cardiomyopathy.
Peters S. | 09/2/2017 |
| Implantable cardioverter defibrillator therapy is indicated for primary prevention in postpubertal males and in females >/= 30 years with the p.S358L TMEM43 mutation. | Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy.
Hodgkinson KA, Howes AJ, Boland P, Shen XS, Stuckless S, Young TL, Curtis F, Collier A, Parfrey PS, Connors SP. | 07/2/2016 |
| Results suggest a link between missense mutation in this protein and the risk of familial ARVC | The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S, Münnich T, Šarić T, Rasmussen TB, Jensen HK, Mogensen J, Baecker C, Romaker E, Laser KT, zu Knyphausen E, Kassner A, Gummert J, Judge DP, Connors S, Hodgkinson K, Young TL, van der Zwaag PA, van Tintelen JP, Anselmetti D. | 01/2/2016 |
| These observations suggest that expression of the p.S358L mutant of TMEM43 found in ARVC type 5 may affect localization of proteins involved in conduction, alter gap junction function and reduce conduction velocity in cardiac tissue. | TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.
Siragam V, Cui X, Masse S, Ackerley C, Aafaqi S, Strandberg L, Tropak M, Fridman MD, Nanthakumar K, Liu J, Sun Y, Su B, Wang C, Liu X, Yan Y, Mendlowitz A, Hamilton RM., Free PMC Article | 07/4/2015 |
| ARVC due to p.S358L in TMEM43 is a variant form of ARVC with extreme variability of expression. It is sex influenced: males are more frequently hospitalized and have heart failure and SCD at a younger age than females. | The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.
Hodgkinson KA, Connors SP, Merner N, Haywood A, Young TL, McKenna WJ, Gallagher B, Curtis F, Bassett AS, Parfrey PS. | 01/18/2014 |
| TMEM43 mutations occur outside of the founder population of the island of Newfoundland where it was originally described. | TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
Baskin B, Skinner JR, Sanatani S, Terespolsky D, Krahn AD, Ray PN, Scherer SW, Hamilton RM. | 12/7/2013 |
| full gene sequencing of TMEM43 in 143 ARVC probands (families) from the UK revealed three potential pathogenic variants (p.R312W, p.R28W, p.E142K). The p.R312W missense variant is a recurrent mutation due to a founder effect and is likely pathogenic. | Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
Haywood AF, Merner ND, Hodgkinson KA, Houston J, Syrris P, Booth V, Connors S, Pantazis A, Quarta G, Elliott P, McKenna W, Young TL. | 09/21/2013 |
| Ser358Leu mutant TMEM43 exhibits normal cellular localization and does not disrupt integrity and localization of other nuclear envelope and desmosomal proteins. | Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Rajkumar R, Sembrat JC, McDonough B, Seidman CE, Ahmad F., Free PMC Article | 07/21/2012 |
| The TMEM43 gene underlies a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) which may share a final common pathway with desmosome-associated ARVC. | Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH. | 12/31/2011 |
| The results of study suggested that mutant LUMAs may be associated with EDMD-related myopathy. | TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK. | 08/27/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Studies indicate that in 2007, the Newfoundland local research team discovered the causative mutation in a novel gene TMEM43 within the disease-associated founder haplotype. | Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.
Hodgkinson K, Dicks E, Connors S, Young TL, Parfrey P, Pullman D. | 03/8/2010 |
| Observational study of genetic testing. (HuGE Navigator) | Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R. | 12/2/2009 |
| LUMA (TMEM43) is a highly conserved protein located to inner nuclear membrane (INM) and interacting with A- and B-type lamins. It is particularly important for anchoring of emerin at the INM and may thus contribute to the pathogenesis of laminopathies. | LUMA interacts with emerin and influences its distribution at the inner nuclear membrane.
Bengtsson L, Otto H. | 11/4/2008 |
| In families with arrhythmogenic right ventricular cardiomyopathy, there was found a missense mutation in a highly conserved transmembrane domain of TMEM43 and was predicted to be deleterious. | Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL, Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL., Free PMC Articles: PMC2427209, PMC2427209 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL, Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL., Free PMC Articles: PMC2427209, PMC2427209 | 04/3/2008 |