PMC Articles for MedGen (Select 871266) - PMC

Nieves García-Quintáns, Silvia Sacristán, Cristina Márquez-López, Cristina Sánchez-Ramos, Fernando Martinez-de-Benito, David Siniscalco, Andrés González-Guerra, Emilio Camafeita, Marta Roche-Molina, Mariya Lytvyn, David Morera, María I. Guillen, María A. Sanguino, David Sanz-Rosa, Daniel Martín-Pérez, Ricardo Garcia, Juan A. Bernal

Nat Commun. 2023; 14: 6461. Published online 2023 Oct 13. doi: 10.1038/s41467-023-41981-5

PMCID:: PMC10575922

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Select item 105472794.

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

Benjamin J. Landis, Lindsey R. Helvaty, Gabrielle C. Geddes, Jiuann‐Huey Ivy Lin, Svetlana A. Yatsenko, Cecilia W. Lo, William L. Border, Stephanie Burns Wechsler, Chaya N. Murali, Mahshid S. Azamian, Seema R. Lalani, Robert B. Hinton, Vidu Garg, Kim L. McBride, Jennelle C. Hodge, Stephanie M. Ware

J Am Heart Assoc. 2023 Sep 19; 12(18): e029340. Published online 2023 Sep 8. doi: 10.1161/JAHA.123.029340

PMCID:: PMC10547279

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Select item 105403675.

Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report

Yuki Masuda, Yoko Nagayasu, Hikaru Murakami, Ruri Nishie, Natsuko Morita, Sosuke Hashida, Atsushi Daimon, Misa Nunode, Hiroshi Maruoka, Masae Yoo, Takumi Sano, Yutaka Odanaka, Satoe Fujiwara, Daisuke Fujita, Nobuhiko Okamoto, Masahide Ohmichi

J Med Case Rep. 2023; 17: 411. Published online 2023 Sep 29. doi: 10.1186/s13256-023-04149-9

PMCID:: PMC10540367

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Select item 104744996.

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, National Birth Defects Prevention Study, University of Washington Center for Mendelian Genomics, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad

HGG Adv. 2023 Oct 12; 4(4): 100232. Published online 2023 Aug 12. doi: 10.1016/j.xhgg.2023.100232

PMCID:: PMC10474499

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Select item 104505207.

Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly

Zhou Zhou, Xumei Huang, Xia Tang, Wen Chen, Qianlong Chen, Chaohui Zhang, Yuxin Li, Dachun Zhao, Zhe Zheng, Shengshou Hu, Jikui Wang, Iftikhar J. Kullo, Keyue Ding

HGG Adv. 2023 Oct 12; 4(4): 100227. Published online 2023 Jul 29. doi: 10.1016/j.xhgg.2023.100227

PMCID:: PMC10450520

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Select item 104457368.

CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease

Lino Doering, Alex Cornean, Thomas Thumberger, Joergen Benjaminsen, Beate Wittbrodt, Tanja Kellner, Omar T. Hammouda, Matthias Gorenflo, Joachim Wittbrodt, Jakob Gierten

Dis Model Mech. 2023 Aug 1; 16(8): dmm049811. Published online 2023 Aug 16. doi: 10.1242/dmm.049811

PMCID:: PMC10445736

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Select item 103992079.

G9a inactivation in progenitor cells with Isl1-Cre with reduced recombinase activity models aspects of Dandy-Walker complex

Lijun Chi, Ling Zhong, Dorothy Lee, Xinwen Yu, Amalia Caballero, Brian Nieman, Paul Delgado-Olguin

Biol Open. 2023 Aug 15; 12(8): bio059894. Published online 2023 Jul 28. doi: 10.1242/bio.059894

PMCID:: PMC10399207

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Select item 1038599210.

The Molecular Role of Immune Cells in Dilated Cardiomyopathy

Enping Wang, Ruofan Zhou, Tiange Li, Yimin Hua, Kaiyu Zhou, Yifei Li, Shuhua Luo, Qi An

Medicina (Kaunas) 2023 Jul; 59(7): 1246. Published online 2023 Jul 5. doi: 10.3390/medicina59071246

PMCID:: PMC10385992

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Select item 1036844811.

Body surface potential mapping detects early disease onset in plakophilin-2-pathogenic variant carriers

Manon Kloosterman, Machteld J Boonstra, Rob W Roudijk, Mimount Bourfiss, Iris van der Schaaf, Birgitta K Velthuis, Thijs M H Eijsvogels, Feddo P Kirkels, Peter M van Dam, Peter Loh

Europace. 2023 Jul; 25(7): euad197. Published online 2023 Jul 11. doi: 10.1093/europace/euad197

PMCID:: PMC10368448

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Select item 1035314012.

A novel mutation in the TTN gene resulted in left ventricular noncompaction: a case report and literature review

Shipeng Tian, Hao Liang, Xiaolei Li, Boce Cao, Lu Feng, Lili Wang

BMC Cardiovasc Disord. 2023; 23: 352. Published online 2023 Jul 17. doi: 10.1186/s12872-023-03382-w

PMCID:: PMC10353140

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Select item 1035299013.

Left Ventricular Noncompaction: A Distinct Cardiomyopathy or a Trait Shared by Different Cardiac Diseases?

Eloisa Arbustini, Frank Weidemann, Jennifer L. Hall

J Am Coll Cardiol. Author manuscript; available in PMC 2023 Jul 18.

Published in final edited form as: J Am Coll Cardiol. 2014 Oct 28; 64(17): 1840–1850. Published online 2014 Oct 21. doi: 10.1016/j.jacc.2014.08.030

PMCID:: PMC10352990

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Select item 1034787314.

CD44 regulates Epac1-mediated β-adrenergic-receptor-induced Ca²⁺-handling abnormalities: implication in cardiac arrhythmias

Yi-Hsin Chan, Feng-Chun Tsai, Gwo-Jyh Chang, Ying-Ju Lai, Shang-Hung Chang, Wei-Jan Chen, Yung-Hsin Yeh

J Biomed Sci. 2023; 30: 55. Published online 2023 Jul 14. doi: 10.1186/s12929-023-00944-0

PMCID:: PMC10347873

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Select item 1029657215.

Blood Biomarkers in Takotsubo Syndrome Point to an Emerging Role for Inflammaging in Endothelial Pathophysiology

Michiaki Nagai, Sergey Shityakov, Manuel Smetak, Hannah Jill Hunkler, Christian Bär, Nicolas Schlegel, Thomas Thum, Carola Yvette Förster

Biomolecules. 2023 Jun; 13(6): 995. Published online 2023 Jun 15. doi: 10.3390/biom13060995

PMCID:: PMC10296572

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Select item 1028414016.

Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1

Wei Shi, Angel P. Scialdone, James I. Emerson, Liu Mei, Lauren K. Wasson, Haley A. Davies, Christine E. Seidman, Jonathan G. Seidman, Jeanette G. Cook, Frank L. Conlon

Circ Res. 2023 Jun 23; 133(1): 48–67. Published online 2023 May 31. doi: 10.1161/CIRCRESAHA.122.322223

PMCID:: PMC10284140

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Select item 1022861817.

CineECG analysis provides new insights into Familial ST-segment Depression Syndrome

Rasmus Frosted, Christian Paludan-Müller, Oliver Bundgaard Vad, Morten Salling Olesen, Henning Bundgaard, Peter van Dam, Alex Hørby Christensen

Europace. 2023 May; 25(5): euad116. Published online 2023 May 4. doi: 10.1093/europace/euad116

PMCID:: PMC10228618

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Select item 1019260318.

Remodeled connexin 43 hemichannels alter cardiac excitability and promote arrhythmias

Mauricio A. Lillo, Manuel Muñoz, Paula Rhana, Kelli Gaul-Muller, Jonathan Quan, Natalia Shirokova, Lai-Hua Xie, Luis Fernando Santana, Diego Fraidenraich, Jorge E. Contreras

J Gen Physiol. 2023 Jul 3; 155(7): e202213150. Published online 2023 May 16. doi: 10.1085/jgp.202213150

PMCID:: PMC10192603

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Select item 1018337019.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P. Adam, Amber Begtrup, Debora R. Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, Maria J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol J. Saunders, Rhonda Schnur, Matej Skorvanek, Susan L. Sell, Anne Slavotinek, Bonnie R. Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

Am J Hum Genet. 2023 May 4; 110(5): 809–825. Published online 2023 Apr 18. doi: 10.1016/j.ajhg.2023.03.014

PMCID:: PMC10183370

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Select item 1014872720.

ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest

Lizhu Lin, Antonella Pinto, Lu Wang, Kazumi Fukatsu, Yan Yin, Simon D Bamforth, Marianne E Bronner, Sylvia M Evans, Shuyi Nie, Robert H Anderson, Alexey V Terskikh, Paul D Grossfeld

Hum Mol Genet. 2022 Dec 15; 31(24): 4217–4227. Published online 2022 Jul 28. doi: 10.1093/hmg/ddac174

PMCID:: PMC10148727

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