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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. Milting H, et al. Among authors: connors s. Eur Heart J. 2015 Apr 7;36(14):872-81. doi: 10.1093/eurheartj/ehu077. Epub 2014 Mar 4. Eur Heart J. 2015. PMID: 24598986
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, et al. Among authors: connors s. Am J Hum Genet. 2008 Apr;82(4):809-21. doi: 10.1016/j.ajhg.2008.01.010. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18313022 Free PMC article.
The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5).
Hodgkinson KA, Parfrey PS, Bassett AS, Kupprion C, Drenckhahn J, Norman MW, Thierfelder L, Stuckless SN, Dicks EL, McKenna WJ, Connors SP. Hodgkinson KA, et al. Among authors: connors sp. J Am Coll Cardiol. 2005 Feb 1;45(3):400-8. doi: 10.1016/j.jacc.2004.08.068. J Am Coll Cardiol. 2005. PMID: 15680719 Free PMC article.
"There are days I wish it wasn't there, and there's days I realize I'm lucky": A qualitative study of psychological sequelae to the implantable cardioverter defibrillator as a treatment for the prevention of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.
Etchegary H, Pullman D, Connors SP, Simmonds C, Young TL, Hodgkinson KA. Etchegary H, et al. JRSM Cardiovasc Dis. 2017 Mar 8;6:2048004017698614. doi: 10.1177/2048004017698614. eCollection 2017 Jan-Dec. JRSM Cardiovasc Dis. 2017. PMID: 35186284 Free PMC article.
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. Hodgkinson KA, et al. Among authors: connors sp. Circ Arrhythm Electrophysiol. 2016 Mar;9(3):e003589. doi: 10.1161/CIRCEP.115.003589. Circ Arrhythm Electrophysiol. 2016. PMID: 26966288
Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?
Brothers C, Etchegary H, Curtis F, Simmonds C, Houston J, Young TL, Pullman D, Mariathas HH, Connors S, Hodgkinson K. Brothers C, et al. Among authors: connors s. Public Health Genomics. 2021;24(5-6):253-260. doi: 10.1159/000517265. Epub 2021 Sep 9. Public Health Genomics. 2021. PMID: 34500452 Free article.
184 results