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Ankyrin-B dysfuncti...
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy
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- Roberts, Jason D. (author)
- Western Univ, Canada; UCSF, CA USA
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- Murphy, Nathaniel P. (author)
- Ohio State Univ, OH 43210 USA
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- Hamilton, Robert M. (author)
- Hosp Sick Children, Canada; Univ Toronto, Canada
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- Lubbers, Ellen R. (author)
- Ohio State Univ, OH 43210 USA
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- James, Cynthia A. (author)
- Johns Hopkins Univ, MD USA
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- Kline, Crystal F. (author)
- Ohio State Univ, OH 43210 USA
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- Gollob, Michael H. (author)
- Univ Toronto, Canada
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- Krahn, Andrew D. (author)
- Univ British Columbia, Canada
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- Sturm, Amy C. (author)
- Geisinger, PA USA
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- Musa, Hassan (author)
- Ohio State Univ, OH 43210 USA
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- El-Refaey, Mona (author)
- Ohio State Univ, OH 43210 USA
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- Koenig, Sara (author)
- Ohio State Univ, OH 43210 USA
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- Åström, Meriam (author)
- Linköpings universitet,Avdelningen för kardiovaskulär medicin,Medicinska fakulteten,Region Östergötland, Fysiologiska kliniken US
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- Hoorntje, Edgar T. (author)
- Netherlands Heart Inst, Netherlands; Univ Groningen, Netherlands
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- Graw, Sharon L. (author)
- Univ Colorado Denver, CO USA
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- Davies, Robert W. (author)
- Hosp Sick Children, Canada; Hosp Sick Children, Canada
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- Rafiq, Muhammad Arshad (author)
- Hosp Sick Children, Canada; Hosp Sick Children, Canada; Univ Toronto, Canada; COMSATS Univ, Pakistan
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- Koopmann, Tamara T. (author)
- Hosp Sick Children, Canada; Univ Toronto, Canada
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- Aafaqi, Shabana (author)
- Hosp Sick Children, Canada; Univ Toronto, Canada
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- Fatah, Meena (author)
- Hosp Sick Children, Canada; Univ Toronto, Canada
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- Chiasson, David A. (author)
- Hosp Sick Children, Canada
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- Taylor, Matthew R. G. (author)
- Univ Colorado Denver, CO USA; Univ Colorado Denver, CO USA
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- Simmons, Samantha L. (author)
- Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA
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- Han, Mei (author)
- Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA
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- van Opbergen, Chantal J. M. (author)
- Univ Utrecht, Netherlands
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- Wold, Loren E. (author)
- Ohio State Univ, OH 43210 USA
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- Sinagra, Gianfranco (author)
- ASUITS Univ Trieste, Italy
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- Mittal, Kirti (author)
- Hosp Sick Children, Canada; Univ Toronto, Canada
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- Tichnell, Crystal (author)
- Johns Hopkins Univ, MD USA
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- Murray, Brittney (author)
- Johns Hopkins Univ, MD USA
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- Codima, Alberto (author)
- Univ Sao Paulo, Brazil
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- Nazer, Babak (author)
- Oregon Hlth and Sci Univ, OR 97201 USA
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- Nguyen, Duy T. (author)
- Univ Colorado, CO USA
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- Marcus, Frank I. (author)
- Univ Arizona, AZ USA
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- Sobriera, Nara (author)
- Johns Hopkins Univ, MD USA
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- Lodder, Elisabeth M. (author)
- Univ Amsterdam, Netherlands
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- van den Berg, Maarten P. (author)
- Univ Groningen, Netherlands
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- Spears, Danna A. (author)
- Univ Toronto, Canada
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- Robinson, John F. (author)
- Western Univ, Canada
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- Ursell, Philip C. (author)
- UCSF, CA USA
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- Gréen, Anna (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
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- Skanes, Allan C. (author)
- Western Univ, Canada
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- Tang, Anthony S. (author)
- Western Univ, Canada
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- Gardner, Martin J. (author)
- Dalhousie Univ, Canada
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- Hegele, Robert A. (author)
- Western Univ, Canada
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- van Veen, Toon A. B. (author)
- Univ Utrecht, Netherlands
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- Wilde, Arthur A. M. (author)
- Univ Amsterdam, Netherlands
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- Healey, Jeff S. (author)
- McMaster Univ, Canada
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- Janssen, Paul M. L. (author)
- Ohio State Univ, OH 43210 USA
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- Mestroni, Luisa (author)
- Univ Colorado Denver, CO USA
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- van Tintelen, J. Peter (author)
- Univ Groningen, Netherlands; Univ Amsterdam, Netherlands; UMCU, Netherlands
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- Calkins, Hugh (author)
- Johns Hopkins Univ, MD USA
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- Judge, Daniel P. (author)
- Johns Hopkins Univ, MD USA; Med Univ South Carolina, SC 29425 USA
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- Hund, Thomas J. (author)
- Ohio State Univ, OH 43210 USA
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- Scheinman, Melvin M. (author)
- UCSF, CA USA
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- Mohler, Peter J. (author)
- Ohio State Univ, OH 43210 USA
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(creator_code:org_t)
- AMER SOC CLINICAL INVESTIGATION INC, 2019
- 2019
- English.
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In: Journal of Clinical Investigation. - : AMER SOC CLINICAL INVESTIGATION INC. - 0021-9738 .- 1558-8238. ; 129:8, s. 3171-3184
- Related links:
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https://liu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on cardiac tissue analysis, an ANK2 mouse model was found to develop dramatic structural abnormalities reflective of human ACM, including biventricular dilation, reduced ejection fraction, cardiac fibrosis, and premature death. Desmosomal structure and function appeared preserved in diseased human and murine specimens in the presence of markedly abnormal beta-catenin expression and patterning, leading to identification of a previously unknown interaction between ankyrin-B and beta-catenin. A pharmacological activator of the WNT/beta-catenin pathway, SB-216763, successfully prevented and partially reversed the murine ACM phenotypes. Our findings introduce what we believe to be a new pathway for ACM, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and beta-catenin, and evidence for targeted activation of the WNT/beta-catenin pathway as a potential treatment for this disease.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Roberts, Jason D ...
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Murphy, Nathanie ...
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Hamilton, Robert ...
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Lubbers, Ellen R ...
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James, Cynthia A ...
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Kline, Crystal F ...
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show more...
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Gollob, Michael ...
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Krahn, Andrew D.
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Sturm, Amy C.
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Musa, Hassan
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El-Refaey, Mona
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Koenig, Sara
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Åström, Meriam
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Hoorntje, Edgar ...
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Graw, Sharon L.
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Davies, Robert W ...
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Rafiq, Muhammad ...
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Koopmann, Tamara ...
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Aafaqi, Shabana
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Fatah, Meena
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Chiasson, David ...
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Taylor, Matthew ...
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Simmons, Samanth ...
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Han, Mei
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van Opbergen, Ch ...
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Wold, Loren E.
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Sinagra, Gianfra ...
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Mittal, Kirti
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Tichnell, Crysta ...
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Murray, Brittney
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Codima, Alberto
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Nazer, Babak
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Nguyen, Duy T.
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Marcus, Frank I.
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Sobriera, Nara
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Lodder, Elisabet ...
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van den Berg, Ma ...
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Spears, Danna A.
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Robinson, John F ...
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Ursell, Philip C ...
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Gréen, Anna
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Skanes, Allan C.
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Tang, Anthony S.
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Gardner, Martin ...
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Hegele, Robert A ...
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van Veen, Toon A ...
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Wilde, Arthur A. ...
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Healey, Jeff S.
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Janssen, Paul M. ...
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Mestroni, Luisa
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van Tintelen, J. ...
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Calkins, Hugh
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Judge, Daniel P.
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Hund, Thomas J.
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Scheinman, Melvi ...
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Mohler, Peter J.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
- Articles in the publication
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Journal of Clini ...
- By the university
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Linköping University