Citations 3
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Johnson, Renée , Fletcher, Robert A. , Peters, Stacey , Ohanian, Monique , Soka, Magdalena , Smolnikov, Andrei , Abihider, Katherine E, Ackerman, Michael J. , Ader, Flavie , Akhtar, Mohammed , Ashley, Euan A. , Austin, Rachel , Baas, Annette F., Blouin, Jean‐Louis , Brown, Emily E. , Cannie, Douglas , Correnti, Gemma, Ferro, Matteo Dal , Dellefave‐Castillo, Lisa , Dooijes, Dennis , Dybro, Anne M. , Demri, Youssef Ed, Hachmi, Mohamed El , Escobar-López, Luis , Foye, Sarah , Gigli, Marta , López, Esther González , Goudal, Adeline , Graw, Sharon , Guipponi, Michel, Haan, Eric , Haas, Jan , Hammersley, Daniel , Hansen, Frederikke , Hey, Thomas Morris , Houweling, Arjan C. , Ingrey, A., Jabbour, Andrew , Jansweijer, Joeri A. , Jongbloed, Jan D.H. , Keogh, Anne , Deprez, Ronald H. Lekanne , Macciocca, Ivan , Mansencal, Nicolas , Mansour, Julia, Martinez‐Veira, Cristina, Medo, Kristen , Merlo, Marco , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Murphy, Anne M. , Murray, Brittney , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L. , Picard, Kermshlise, Prasad, Sanjay , Proukhnitzky, Julie , Pruny, Jean-François, Réant, Patricia , Ronan, Anne , Semsarian, Christopher , Storm, Garrett , Thomson, Kate , Thompson, Tina , Wallis, Mathew , Flagship, Australian Genomics Cardiac, Adès, Lesley C., Alankarage, Dimithu, almog, Morgan, Al-Shinnag, Mohammad , Barnett, Chris , Bodek, Simon , Boggs, Kirsten, Bray, Alessandra , Brown, Jaye, Burns, Charlotte , Cao, Michelle, Carr, Will, Casauria, Sarah , Chalinor, Heather V., Chang, Yu‐Chen , Charitou, Theodosia , Collins, Felicity, Correnti, Gemma, Cox, Kathy, Das, Debjani , Fazio, Paul De, Elzen, Nicola Den, Devery, Sophie , Dobbins, Julia , Elbracht-Leong, Stefanie, Enríquez, A. Juanico, Fatkin, Diane , Fear, Vanessa S. , Fine, Miriam, Garza, Denisse , Gongolidis, Laura, Gray, Belinda , Greer, Cassie, Haan, Eric, Haas, Mathilda, Hanna, Bernadette , Hayward, Janette, Herrera, Carmen, Hill, Adam P. , Hollingsworth, Georgie, Hollway, Georgina E. , Horton, Ari , Ingles, Jodie, Isbister, Joanne , Jane-Pantaleo, Sarah, Kelly, Andrew , King‐Smith, Sarah L., Lassman, Timo, Lipton, Jonathon, MacIntyre, Paul, Madelli, Evanthia O. , Martin, Ellenore , Medi, C., Metke, Alejandro, Morrish, A., Morwood, Jim, Mowat, David , Ng, Chai‐Ann , Nowak, Natalie , Martinez, Noelia Nunez, O'Sullivan, S. S. , Overkov, Angela, Perrin, Mark J. , Perry, Matthew , Pflaumer, Andreas , Phillips, Peta, Phuong, Thuan, Pope-Couston, Rachel, Poplawski, Nicola K., Punni, Preeti, Rajagopalan, Sulekha , Regan, Matthew, Rogers, Jonathan, Ryan, Mark , Sandaradura, Sarah A. , Schönrock, Nicole, Scuffham, Paul , Sherburn, Isabella, Sherlock, Mary-Clare, Smerdon, Carla, Smith, Janine , Smyth, Renee, Sy, Raymond W. , Tang, Dotti, Taylor, Shelby , Tchan, Michel , Trainer, Alison, Trivedi, Gunjan, Spaendonck‐Zwarts, Karin van , Vandenberg, Jamie I. , Verma, Kunal , Vidgen, Miranda E. , Vohra, Jitendra K. , Waddel-Smith, Kathryn, Weintraub, Robert G, Worgan, Lisa , Wornham, Linda, Wu, Kathy H. C. , Yeates, Laura , Zentner, Dominica, Arnott, Clare , Fokstuen, Siv , Meder, Benjamin , Giudicessi, John R. , Parikh, Victoria N. , Ware, James S. , Rooryck, Caroline , Lakdawala, Neal K. , Elliott, Perry , Charron, Philippe , Peña‐Peña, María Luisa, Mogensen, Jens , Rasmussen, Torsten B. , Seidman, Jonathan G. , Seidman, Christine E. , Riele, Anneline S.J.M. te , Pinto, Yigal M. , Christiaans, Imke , Fatkin, Diane, Gray, Belinda , Akhtar, Mohammed M , Amin, Ahmad S , Ashley, Euan A , Atherton, John J , Austin, Rachel , Baas, Annette F , Bagnall, Richard D , Ross, Samantha Barratt , Blouin, Jean-Louis , Brown, Emily E , Bundgaard, Henning , Cannie, Douglas , Chmielewski, Przemyslaw , Crespo-Leiro, Maria Generosa , Dal Ferro, Matteo , Dellefave-Castillo, Lisa M , Dominguez, Fernando , Dybro, Anne M , Ed Demri, Youssef , El Hachmi, Mohamed , Escobar-Lopez, Luis , Foye, Sarah Jajesnica , Franaszczyk, Maria , Gigli, Marta , Goudal, Adeline , Graw, Sharon , Guipponi, Michel , Haan, Eric , Hammersley, Daniel J , Hansen, Frederikke G , Hayward, Chris , Hey, Thomas Morris , Ho, Carolyn Y , Houweling, Arjan C , Jabbour, Andrew , Jansweijer, Joeri A , Jongbloed, Jan D H , Keogh, Anne M , Larrañaga-Moreira, Jose M , Lekanne Deprez, Ronald H , Macciocca, Ivan , Macdonald, Peter S , McDonough, Barbara , McGaughran, Julie , Medo, Kristen , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Muller, Steven A , Murphy, Anne M , Oates, Emily C , Ormondroyd, Elizabeth , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L , Proukhnitzky, Julie , Reant, Patricia , Richard, Pascale , Ronan, Anne , Sedaghat-Hamedani, Farbod , Semsarian, Christopher , Storm, Garrett , Stroeks, Sophie , Taylor, Matthew R G , Thomson, Kate , Thompson, Tina , van Tintelen, J Peter , Vissing, Christoffer Rasmus , Waddell-Smith, Kathryn E , Wallis, Mathew , Marian, Ali J , Fokstuen, Siv , Giudicessi, J R , Parikh, Victoria N , Piriou, Nicolas , Rooryck, Caroline , Lakdawala, Neal K , Mestroni, Luisa , van Spaendonck-Zwarts, Karin Y , Garcia-Pavia, Pablo , Peña-Peña, Maria Luisa , Christensen, Alex Hoerby , Bilińska, Zofia T , Rasmussen, Torsten B , Seidman, Jonathan G , Seidman, Christine E , Te Riele, Anneline S J M , Ware, James S , Gray, Belinda , Vandenberg, Jamie I , Fletcher, Robert A , Amin, Ahmad S. , Bundgaard, Henning , Crespo‐Leiro, María G. , Domínguez, Fernándo , Heymans, Stéphane , Ho, Carolyn Y. , Ingles, Jodie , James, Paul A. , McGaughran, Julie , Paldino, Alessia , Poplawski, Nicola Kazia , Prasad, Sanjay K , Syrris, Petros , Taylor, Matthew R.G. , Tintelen, J. Peter van , Zentner, Dominica , Flagship, Australian Genomics Cardiac, Barnett, Chris, Blue, Gillian M. , Bogwitz, Michael R. , Boughtwood, Tiffany F. , Brion, Marie‐Jo , Bryson‐Richardson, Robert J. , Burnett, Leslie , Chapman, Gavin , Chong, Belinda , Correnti, Gemma, Cox, Kathy, Cunningham, Fiona, Davis, Jason A. , Davis, Andrew M. , Silva, M. De , Dunwoodie, Sally L. , Dwyer, Nathan , Elliott, David A. , Enriquez, Annabel, Finlay, Keri , Giannoulatou, Eleni , Greer, Cassie, Harvey, Richard Paul , Herrera, Carmen, Hill, Adam, Howting, Denise A. , Jackson, Matilda R. , Johnson, Renee, Kirk, Edwin Philip , Kummerfeld, Sarah , Lunke, Sebastian , MacIntyre, Paul, Mallawaarachchi, Amali C. , Mathew, Jacob , Mattiske, Tessa , McLean, Alison K. , McNamara, James W. , Milnes, Di , Milward, Michael, O'Sullivan, Sinead, Patel, Chirag , Quinn, Michael C. , Raju, Hariharan , Rath, Emma M. , Regan, Matthew, Ryan, Mark, Singer, Emma S. , Stark, Zornitza , Taylor, Jessica, Thorpe, Jordan , Trivedi, Gunjan , Valente, Giulia , Wilson, Meredith , Winlaw, David Scott , Zentner, Dominica, Oh, Jae Won , James, Cynthia A. , Villa, Roberto Barriales , Wahbi, Karim , Mestroni, Luisa , Sinagra, Gianfranco , Watkins, Hugh , McNally, Elizabeth M. , Charron, Philippe , Verdonschot, Job A.J.
European Heart Journal | July 18, 2025 | Volume: 46 | Issue: 48 | Pages: 5240-5257
Abstract Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv. Methods An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM. Results A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTNtv-positive subjects were 21-fold more likely to develop DCM [OR, 21.21; 95% confidence interval (CI), 14.80–30.39]. Disease onset was earlier in males, but was similar for TTNtv of different types and locations. The presence of clinical risk factors was associated with earlier DCM onset (OR, 3.41; 95% CI, 2.06–5.64), with a prior history of atrial fibrillation having a two-fold increased odds of DCM (OR, 2.05; 95% CI, 1.27–3.32). The prevalence of clinical risk factors increased with age; however, the strength of the DCM association was greatest for young-onset (<30 years) disease (OR, 4.75; 95% CI, 2.35–9.60). Administration of beta-adrenergic receptor or renin-angiotensin system-blocking drugs prior to overt DCM was associated with 87% reduced odds of DCM (OR, .13; 95% CI, .08–.23). Conclusions Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
Butters, Alexandra , Thomson, Kate , Harrington, Franki, Henden, Natasha , McGuire, Karen, Byrne, Alicia B. , Bryen, Samantha J. , McGurk, Kathryn A. , Leask, Megan, Ackerman, Michael J. , Caleshu, Colleen , Day, Sharlene M. , Dunn, Kyla , Nowak, Natalie , Parikh, Victoria N. , Ronan, Anne , Semsarian, Christopher , Tiemensma, Marianne , Ware, James S. , Siggs, Owen M. , Ingles, Jodie , Bryen, Samantha , Ware, James S , MacArthur, Daniel G , Siggs, Owen M , Bagnall, Richard D , Ingles, Jodie , Thomson, Kate , Harrington, Francesca , Atherton, John J , Bos, J. Martijn , Hayes, Ian, Juang, Jyh‐Ming Jimmy , McGaughran, Julie , Tardiff, Jil C. , Merriman, Tony Raymond , Skinner, Jonathan R. , MacArthur, Daniel G.
European Heart Journal | March 5, 2025 | Volume: 46 | Issue: 15 | Pages: 1446-1449
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A
Phillips-Krawczak, Christine, Singla, Amika , Starokadomskyy, Petro , Deng, Zhi-Hui , Osborne, Douglas G. , Li, Haiying , Dick, Christopher J., Gomez, Timothy S., Koenecke, Megan M, Zhang, Jin‐San , Dai, Haiming , Sifuentes-Dominguez, Luis , Geng, Linda N. , Hein, Marco Y. , Wallis, Mathew , McGaughran, Julie , Gécz, Jozef , Sluis, Bart van de , Billadeau, Daniel D. , Burstein, Ezra , Kaufmann, Scott H. , van de Sluis, Bart , Burstein, Ezra , McGaughran, Julie , Wallis, Mathew , Dai, Haiming , Geng, Linda N.
Molecular Biology of the Cell | October 30, 2014 | Volume: 26 | Issue: 1 | Pages: 91-103
COMMD1 deficiency results in defective copper homeostasis, but the mechanism for this has remained elusive. Here we report that COMMD1 is directly linked to early endosomes through its interaction with a protein complex containing CCDC22, CCDC93, and C16orf62. This COMMD/CCDC22/CCDC93 (CCC) complex interacts with the multisubunit WASH complex, an evolutionarily conserved system, which is required for endosomal deposition of F-actin and cargo trafficking in conjunction with the retromer. Interactions between the WASH complex subunit FAM21, and the carboxyl-terminal ends of CCDC22 and CCDC93 are responsible for CCC complex recruitment to endosomes. We show that depletion of CCC complex components leads to lack of copper-dependent movement of the copper transporter ATP7A from endosomes, resulting in intracellular copper accumulation and modest alterations in copper homeostasis in humans with CCDC22 mutations. This work provides a mechanistic explanation for the role of COMMD1 in copper homeostasis and uncovers additional genes involved in the regulation of copper transporter recycling.