These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3β. Padrón-Barthe L; Villalba-Orero M; Gómez-Salinero JM; Domínguez F; Román M; Larrasa-Alonso J; Ortiz-Sánchez P; Martínez F; López-Olañeta M; Bonzón-Kulichenko E; Vázquez J; Martí-Gómez C; Santiago DJ; Prados B; Giovinazzo G; Gómez-Gaviro MV; Priori S; Garcia-Pavia P; Lara-Pezzi E Circulation; 2019 Oct; 140(14):1188-1204. PubMed ID: 31567019 [TBL] [Abstract][Full Text] [Related]
3. The Orgil BO; Munkhsaikhan U; Pierre JF; Li N; Xu F; Alberson NR; Johnson JN; Wetzel GT; Boukens BJD; Lu L; Towbin JA; Purevjav E Am J Physiol Heart Circ Physiol; 2023 Jun; 324(6):H866-H880. PubMed ID: 37083466 [TBL] [Abstract][Full Text] [Related]
4. Altered Expression of Zink M; Seewald A; Rohrbach M; Brodehl A; Liedtke D; Williams T; Childs SJ; Gerull B Int J Mol Sci; 2022 Aug; 23(17):. PubMed ID: 36076925 [TBL] [Abstract][Full Text] [Related]
5. 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 PLoS One; 2014; 9(10):e109128. PubMed ID: 25343256 [TBL] [Abstract][Full Text] [Related]
6. 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 Eur Heart J; 2015 Apr; 36(14):872-81. PubMed ID: 24598986 [TBL] [Abstract][Full Text] [Related]
7. 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 Heart Rhythm; 2020 Jul; 17(7):1159-1166. PubMed ID: 32120009 [TBL] [Abstract][Full Text] [Related]
8. TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Zheng G; Jiang C; Li Y; Yang D; Ma Y; Zhang B; Li X; Zhang P; Hu X; Zhao X; Du J; Lin X Protein Cell; 2019 Feb; 10(2):104-119. PubMed ID: 29980933 [TBL] [Abstract][Full Text] [Related]
9. Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L. Ratnavadivel S; Szymanski de Toledo M; Rasmussen TB; Šarić T; Gummert J; Zenke M; Milting H Stem Cell Res; 2020 Oct; 48():101957. PubMed ID: 32858485 [TBL] [Abstract][Full Text] [Related]
10. Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic cardiomyopathy. Rouhi L; Cheedipudi SM; Chen SN; Fan S; Lombardi R; Chen X; Coarfa C; Robertson MJ; Gurha P; Marian AJ Cardiovasc Res; 2021 Sep; 117(11):2377-2394. PubMed ID: 33070193 [TBL] [Abstract][Full Text] [Related]
11. 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 Heart Rhythm; 2020 Jun; 17(6):945-954. PubMed ID: 32062046 [TBL] [Abstract][Full Text] [Related]
12. Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant. Lee SH; Lim G; Kim H; Suh D; Choi HK; Kim HP; Yoon HG; Park SW; Kang SM; Kwon C; Oh J; Lee SH Stem Cell Res; 2024 Aug; 78():103453. PubMed ID: 38824800 [TBL] [Abstract][Full Text] [Related]
13. 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 Public Health Genomics; 2021; 24(5-6):253-260. PubMed ID: 34500452 [TBL] [Abstract][Full Text] [Related]
14. 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 Circ Arrhythm Electrophysiol; 2016 Mar; 9(3):. PubMed ID: 26966288 [TBL] [Abstract][Full Text] [Related]
15. Systems genetics analysis defines importance of TMEM43/ Gu Q; Xu F; Orgil BO; Khuchua Z; Munkhsaikhan U; Johnson JN; Alberson NR; Pierre JF; Black DD; Dong D; Brennan JA; Cathey BM; Efimov IR; Towbin JA; Purevjav E; Lu L Physiol Genomics; 2022 Jan; 54(1):22-35. PubMed ID: 34766515 [TBL] [Abstract][Full Text] [Related]
16. Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9. Ratnavadivel S; Dammeier J; Gaertner A; de Toledo MAS; Zenke M; Gummert J; Bloch Rasmussen T; Klinke N; Jürgens K; Meyer H; Paululat A; Milting H Stem Cell Res; 2024 Apr; 76():103354. PubMed ID: 38430734 [TBL] [Abstract][Full Text] [Related]
17. 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 Hum Genet; 2013 Nov; 132(11):1245-52. PubMed ID: 23812740 [TBL] [Abstract][Full Text] [Related]
18. 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 Am J Hum Genet; 2008 Apr; 82(4):809-21. PubMed ID: 18313022 [TBL] [Abstract][Full Text] [Related]
19. 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 Eur Heart J; 2013 Apr; 34(13):1002-11. PubMed ID: 23161701 [TBL] [Abstract][Full Text] [Related]
20. A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5. Klinke N; Meyer H; Ratnavadivel S; Reinhardt M; Heinisch JJ; Malmendal A; Milting H; Paululat A Cell Mol Life Sci; 2022 Jul; 79(8):444. PubMed ID: 35869176 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]