PMC Links for GEO Profiles (Select 89869689) - PMC

Select item 96981561.

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

Abstract Article PDF–2.9M

Select item 83800592.

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

Abstract Article PDF–1.7M

Select item 76571793.

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

Abstract Article PDF–225K

Select item 76025824.

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

Abstract Article PDF–12M

Select item 61666825.

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

Abstract Article PDF–3.8M

Select item 53802296.

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

Abstract Article PDF–614K

Select item 53518547.

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

Abstract Article PDF–1.6M

Select item 32629528.

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

Abstract Article PDF–645K

Select item 31780599.

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

Abstract Article PDF–1.0M

Select item 13924110.

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

Abstract Article PDF–118K

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