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Items: 10

1.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
Luis R Lopes, Soledad Garcia-Hernández, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martí, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Cañamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y T Kwok, Jacob B Smith, Enzo R Porrello, Mohammed M Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A Elliott, Lorenzo Monserrat, Perry M Elliott
Eur Heart J. 2021 Aug 21; 42(32): 3063–3073. Published online 2021 Jul 15. doi: 10.1093/eurheartj/ehab424
PMCID:
PMC8380059
AbstractArticlePDF–1.7M
2.
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants
John Jorholt, Yulia Formicheva, Tatyana Vershinina, Artem Kiselev, Alexey Muravyev, Elena Demchenko, Petr Fedotov, Anna Zlotina, Anton Rygkov, Elena Vasichkina, Thomas Sejersen, Anna Kostareva
Genes (Basel) 2020 Oct; 11(10): 1201. Published online 2020 Oct 15. doi: 10.3390/genes11101201
PMCID:
PMC7602582
AbstractArticlePDF–12M
3.
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
Ulrike Esslinger, Sophie Garnier, Agathe Korniat, Carole Proust, Georgios Kararigas, Martina Müller-Nurasyid, Jean-Philippe Empana, Michael P. Morley, Claire Perret, Klaus Stark, Alexander G. Bick, Sanjay K. Prasad, Jennifer Kriebel, Jin Li, Laurence Tiret, Konstantin Strauch, Declan P. O'Regan, Kenneth B. Marguiles, Jonathan G. Seidman, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Christian Hengstenberg, Michel Komajda, Hakon Hakonarson, Richard Isnard, Eloisa Arbustini, Harald Grallert, Stuart A. Cook, Christine E. Seidman, Vera Regitz-Zagrosek, Thomas P. Cappola, Philippe Charron, François Cambien, Eric Villard
PLoS One. 2017; 12(3): e0172995. Published online 2017 Mar 15. doi: 10.1371/journal.pone.0172995
Correction in:
PLoS One. 2020; 15(2): e0229472.
PMCID:
PMC5351854
AbstractArticlePDF–1.6M
4.
Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere
Radhika Agarwal, Hiroko Wakimoto, Joao A. Paulo, Qi Zhang, Daniel Reichart, Christopher Toepfer, Arun Sharma, Angela C. Tai, Mingyue Lun, Joshua Gorham, Steven R. DePalma, Steven P. Gygi, J.G. Seidman, Christine E. Seidman
Circulation. 2022 Nov 29; 146(22): 1674–1693. Published online 2022 Nov 2. doi: 10.1161/CIRCULATIONAHA.122.059688
PMCID:
PMC9698156
AbstractArticlePDF–2.9M
5.
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy, A Classic Single Gene Disorder
Lili Li, Matthew Neil Bainbridge, Yanli Tan, James T. Willerson, Ali J. Marian
Circ Res. Author manuscript; available in PMC 2018 Mar 31.
Published in final edited form as: Circ Res. 2017 Mar 31; 120(7): 1084–1090. Published online 2017 Feb 21. doi: 10.1161/CIRCRESAHA.116.310559
PMCID:
PMC5380229
AbstractArticlePDF–614K
6.
Genome-wide association analysis of age-at-onset in Alzheimer’s disease
M. Ilyas Kamboh, M. Michael Barmada, F. Yesim Demirci, Ryan L. Minster, Minerva M. Carrasquillo, V. Shane Pankratz, Steven G. Younkin, Andrew J. Saykin, The Alzheimer’s Disease Neuroimaging Initiative, Robert A. Sweet, Eleanor Feingold, Steven T. DeKosky, Oscar L. Lopez
Mol Psychiatry. Author manuscript; available in PMC 2013 Jun 1.
Published in final edited form as: Mol Psychiatry. 2012 Dec; 17(12): 1340–1346. Published online 2011 Oct 18. doi: 10.1038/mp.2011.135
PMCID:
PMC3262952
AbstractArticlePDF–645K
7.
Genome‐wide association study of chemotherapeutic agent‐induced severe neutropenia/leucopenia for patients in Biobank Japan
Siew‐Kee Low, Suyoun Chung, Atsushi Takahashi, Hitoshi Zembutsu, Taisei Mushiroda, Michiaki Kubo, Yusuke Nakamura
Cancer Sci. 2013 Aug; 104(8): 1074–1082. Published online 2013 Jun 10. doi: 10.1111/cas.12186
PMCID:
PMC7657179
AbstractArticlePDF–225K
8.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
9.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K
10.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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