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Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
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Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

Ware, James S ; Li, Jian ; Mazaika, Erica ; Yasso, Christopher M ; DeSouza, Tiffany ; Cappola, Thomas P ; Tsai, Emily J ; Hilfiker-Kleiner, Denise ; Kamiya, Chizuko A ; Mazzarotto, Francesco ; Cook, Stuart A ; Halder, Indrani ; Prasad, Sanjay K ; Pisarcik, Jessica ; Hanley-Yanez, Karen ; Alharethi, Rami ; Damp, Julie ; Hsich, Eileen ; Elkayam, Uri ; Sheppard, Richard ; Kealey, Angela ; Alexis, Jeffrey ; Ramani, Gautam ; Safirstein, Jordan ; Boehmer, John ; Pauly, Daniel F ; Wittstein, Ilan S ; Thohan, Vinay ; Zucker, Mark J ; Liu, Peter ; Gorcsan, John ; McNamara, Dennis M ; Seidman, Christine E ; Seidman, Jonathan G ; Arany, Zoltan

The New England journal of medicine, 2016-01, Vol.374 (3), p.233-241 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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2
Folding pathway of an Ig domain is conserved on and off the ribosome
Folding pathway of an Ig domain is conserved on and off the ribosome
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Folding pathway of an Ig domain is conserved on and off the ribosome

Tian, Pengfei ; Steward, Annette ; Kudva, Renuka ; Su, Ting ; Shilling, Patrick J. ; Nickson, Adrian A. ; Hollins, Jeffrey J. ; Beckmann, Roland ; von Heijne, Gunnar ; Clarke, Jane ; Best, Robert B.

Proceedings of the National Academy of Sciences - PNAS, 2018-11, Vol.115 (48), p.E11284-E11293 [Periódico revisado por pares]

United States: National Academy of Sciences

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3
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Roberts, Angharad M ; Ware, James S ; Herman, Daniel S ; Schafer, Sebastian ; Baksi, John ; Bick, Alexander G ; Buchan, Rachel J ; Walsh, Roddy ; John, Shibu ; Wilkinson, Samuel ; Mazzarotto, Francesco ; Felkin, Leanne E ; Gong, Sungsam ; MacArthur, Jacqueline A L ; Cunningham, Fiona ; Flannick, Jason ; Gabriel, Stacey B ; Altshuler, David M ; Macdonald, Peter S ; Heinig, Matthias ; Keogh, Anne M ; Hayward, Christopher S ; Banner, Nicholas R ; Pennell, Dudley J ; O'Regan, Declan P ; San, Tan Ru ; de Marvao, Antonio ; Dawes, Timothy J W ; Gulati, Ankur ; Birks, Emma J ; Yacoub, Magdi H ; Radke, Michael ; Gotthardt, Michael ; Wilson, James G ; O'Donnell, Christopher J ; Prasad, Sanjay K ; Barton, Paul J R ; Fatkin, Diane ; Hubner, Norbert ; Seidman, Jonathan G ; Seidman, Christine E ; Cook, Stuart A

Science translational medicine, 2015-01, Vol.7 (270), p.270ra6-270ra6 [Periódico revisado por pares]

United States

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4
Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies
Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies
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Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

Yotti, Raquel ; Seidman, Christine E ; Seidman, Jonathan G

Annual review of genomics and human genetics, 2019-08, Vol.20 (1), p.129-153 [Periódico revisado por pares]

United States: Annual Reviews

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5
A Rising Titan: TTN Review and Mutation Update
A Rising Titan: TTN Review and Mutation Update
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A Rising Titan: TTN Review and Mutation Update

Chauveau, Claire ; Rowell, John ; Ferreiro, Ana

Human mutation, 2014-09, Vol.35 (9), p.1046-1059 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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6
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
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Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants

Haggerty, Christopher M ; Damrauer, Scott M ; Levin, Michael G ; Birtwell, David ; Carey, David J ; Golden, Alicia M ; Hartzel, Dustin N ; Hu, Yirui ; Judy, Renae ; Kelly, Melissa A ; Kember, Rachel L ; Lester Kirchner, H ; Leader, Joseph B ; Liang, Lusha ; McDermott-Roe, Chris ; Babu, Apoorva ; Morley, Michael ; Nealy, Zachariah ; Person, Thomas N ; Pulenthiran, Arichanah ; Small, Aeron ; Smelser, Diane T ; Stahl, Richard C ; Sturm, Amy C ; Williams, Heather ; Baras, Aris ; Margulies, Kenneth B ; Cappola, Thomas P ; Dewey, Frederick E ; Verma, Anurag ; Zhang, Xinyuang ; Correa, Adolfo ; Hall, Michael E ; Wilson, James G ; Ritchie, Marylyn D ; Rader, Daniel J ; Murray, Michael F ; Fornwalt, Brandon K ; Arany, Zoltan

Circulation (New York, N.Y.), 2019-07, Vol.140 (1), p.42-54 [Periódico revisado por pares]

United States: by the American College of Cardiology Foundation and the American Heart Association, Inc

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7
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
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Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations

Fomin, Andrey ; Gärtner, Anna ; Cyganek, Lukas ; Tiburcy, Malte ; Tuleta, Izabela ; Wellers, Luisa ; Folsche, Lina ; Hobbach, Anastasia J ; von Frieling-Salewsky, Marion ; Unger, Andreas ; Hucke, Anna ; Koser, Franziska ; Kassner, Astrid ; Sielemann, Katharina ; Streckfuß-Bömeke, Katrin ; Hasenfuss, Gerd ; Goedel, Alexander ; Laugwitz, Karl-Ludwig ; Moretti, Alessandra ; Gummert, Jan F ; Dos Remedios, Cristobal G ; Reinecke, Holger ; Knöll, Ralph ; van Heesch, Sebastiaan ; Hubner, Norbert ; Zimmermann, Wolfram H ; Milting, Hendrik ; Linke, Wolfgang A

Science translational medicine, 2021-11, Vol.13 (618), p.eabd3079 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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8
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation
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Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

Choi, Seung Hoan ; Weng, Lu-Chen ; Roselli, Carolina ; Lin, Honghuang ; Haggerty, Christopher M ; Shoemaker, M. Benjamin ; Barnard, John ; Arking, Dan E ; Chasman, Daniel I ; Albert, Christine M ; Chaffin, Mark ; Tucker, Nathan R ; Smith, Jonathan D ; Gupta, Namrata ; Gabriel, Stacey ; Margolin, Lauren ; Shea, Marisa A ; Shaffer, Christian M ; Yoneda, Zachary T ; Boerwinkle, Eric ; Smith, Nicholas L ; Silverman, Edwin K ; Redline, Susan ; Vasan, Ramachandran S ; Burchard, Esteban G ; Gogarten, Stephanie M ; Laurie, Cecelia ; Blackwell, Thomas W ; Abecasis, Gonçalo ; Carey, David J ; Fornwalt, Brandon K ; Smelser, Diane T ; Baras, Aris ; Dewey, Frederick E ; Jaquish, Cashell E ; Papanicolaou, George J ; Sotoodehnia, Nona ; Van Wagoner, David R ; Psaty, Bruce M ; Kathiresan, Sekar ; Darbar, Dawood ; Alonso, Alvaro ; Heckbert, Susan R ; Chung, Mina K ; Roden, Dan M ; Benjamin, Emelia J ; Murray, Michael F ; Lunetta, Kathryn L ; Lubitz, Steven A ; Ellinor, Patrick T

JAMA : the journal of the American Medical Association, 2018-12, Vol.320 (22), p.2354-2364 [Periódico revisado por pares]

United States: American Medical Association

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9
RBM20 Regulates Circular RNA Production From the Titin Gene
RBM20 Regulates Circular RNA Production From the Titin Gene
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RBM20 Regulates Circular RNA Production From the Titin Gene

Khan, Mohsin A.F ; Reckman, Yolan J ; Aufiero, Simona ; van den Hoogenhof, Maarten M.G ; van der Made, Ingeborg ; Beqqali, Abdelaziz ; Koolbergen, Dave R ; Rasmussen, Torsten B ; van der Velden, Jolanda ; Creemers, Esther E ; Pinto, Yigal M

Circulation research, 2016-10, Vol.119 (9), p.996-1003 [Periódico revisado por pares]

United States: American Heart Association, Inc

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10
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
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Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Ahlberg, Gustav ; Refsgaard, Lena ; Lundegaard, Pia R ; Andreasen, Laura ; Ranthe, Mattis F ; Linscheid, Nora ; Nielsen, Jonas B ; Melbye, Mads ; Haunsø, Stig ; Sajadieh, Ahmad ; Camp, Lu ; Olesen, Søren-Peter ; Rasmussen, Simon ; Lundby, Alicia ; Ellinor, Patrick T ; Holst, Anders G ; Svendsen, Jesper H ; Olesen, Morten S

Nature communications, 2018-10, Vol.9 (1), p.4316-11, Article 4316 [Periódico revisado por pares]

England: Nature Publishing Group

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