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Select item 106150051.

Regional quantification of cardiac metabolism with hyperpolarized [1-¹³C]-pyruvate MRI evaluated in an oral glucose challenge

Peder E. Z. Larson, Shuyu Tang, Xiaoxi Liu, Avantika Sinha, Nicholas Dwork, Sanjay Sivalokanathan, Jing Liu, Robert Bok, Karen G. Ordovas, James Slater, Jeremy W. Gordon, M. Roselle Abraham

Version 1. medRxiv. Preprint. 2023 Oct 19. doi: 10.1101/2023.10.16.23297052

Published in:: J Cardiovasc Magn Reson. 2023; 25: 77.

PMCID:: PMC10615005

Article PDF–2.9M

Select item 84366612.

A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant

Ummuhan Oncul, Engin Kose, Fatma Tuba Eminoglu

Mol Syndromol. 2021 Aug; 12(5): 294–299. Published online 2021 Jul 19. doi: 10.1159/000515928

PMCID:: PMC8436661

Article PDF–546K

Select item 82091623.

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent

Paul Lacaze, Robert Sebra, Moeen Riaz, Jodie Ingles, Jane Tiller, Bryony A. Thompson, Paul A. James, Diane Fatkin, Christopher Semsarian, Christopher M. Reid, Andrew M. Tonkin, Ingrid Winship, Eric Schadt, John J. McNeil

NPJ Genom Med. 2021; 6: 51. Published online 2021 Jun 16. doi: 10.1038/s41525-021-00211-x

PMCID:: PMC8209162

Article PDF–609K

Select item 69781744.

Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13

Nicolas Nardi, François Proulx, Catherine Brunel-Guiton, Luc L. Oligny, Nelson Piché, Grant A. Mitchell, Jean Sébastien Joyal

J Pediatr Intensive Care. 2020 Mar; 9(1): 54–59. Published online 2019 Oct 10. doi: 10.1055/s-0039-1697620

PMCID:: PMC6978174

Article PDF–319K

Select item 61496045.

The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction

Mitsuhiro Fujino, Etsuko Tsuda, Keiichi Hirono, Masanori Nakata, Fukiko Ichida, Yukiko Hata, Naoki Nishida, Kenichi Kurosaki

J Cardiol Cases. 2018 Jul; 18(1): 33–36. Published online 2018 Jul 1. doi: 10.1016/j.jccase.2018.04.001

PMCID:: PMC6149604

Article PDF–701K

Select item 57191616.

The endoplasmic reticulum stress-autophagy pathway is involved in apelin-13-induced cardiomyocyte hypertrophy in vitro

Feng Xie, Di Wu, Shi-fang Huang, Jian-gang Cao, He-ning Li, Lu He, Mei-qing Liu, Lan-fang Li, Lin-xi Chen

Acta Pharmacol Sin. 2017 Dec; 38(12): 1589–1600. Published online 2017 Jul 27. doi: 10.1038/aps.2017.97

PMCID:: PMC5719161

Article PDF–3.6M

Select item 28590047.

Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg→ Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg→ His, in exon 14 of the MYH7 gene: A case report

Radovan Haluza, Štěpánka Halouzková, Martin Bunček, Ondřej Šmíd, Jiří Kvasnička

Exp Clin Cardiol. 2001 Winter; 6(4): 223–227.

PMCID:: PMC2859004

Article PDF–147K

Select item 109464748.

Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial

Charlotte Burns, Laura Yeates, Joanna Sweeting, Christopher Semsarian, Jodie Ingles

J Genet Couns. 2023 Apr; 32(2): 425–434. Published online 2022 Nov 17. doi: 10.1002/jgc4.1651

PMCID:: PMC10946474

Article PDF–1.0M

Select item 108620859.

Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation

Martin Rees, Roksana Nikoopour, Alexander Alexandrovich, Mark Pfuhl, Luis R. Lopes, Mohammed M. Akhtar, Petros Syrris, Perry Elliott, Gerry Carr-White, Mathias Gautel

J Struct Biol. 2023 Sep; 215(3): 108009. doi: 10.1016/j.jsb.2023.108009

PMCID:: PMC10862085

Article

Select item 1076418610.

Harel-Yoon综合征一家系临床表型及ATAD3A基因变异分析

郑祎, 于欣雨, 张婷, 胡凌微, 周朵, 黄新文

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 738–743. Chinese. Published online 2023 Dec 7. doi: 10.3724/zdxbyxb-2023-0421

PMCID:: PMC10764186

Article PDF–1.7M

Select item 1074352811.

Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study

Nicoleta-Monica Popa-Fotea, Nicoleta Oprescu, Alexandru Scafa-Udriste, Miruna Mihaela Micheu

Int J Mol Sci. 2023 Dec; 24(24): 17244. Published online 2023 Dec 8. doi: 10.3390/ijms242417244

PMCID:: PMC10743528

Article PDF–312K

Select item 1054005712.

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy

Teresa Coelho, Wilson Marques, Jr, Noel R. Dasgupta, Chi-Chao Chao, Yeşim Parman, Marcondes Cavalcante França, Jr, Yuh-Cherng Guo, Jonas Wixner, Long-Sun Ro, Cristian R. Calandra, Pedro A. Kowacs, John L. Berk, Laura Obici, Fabio A. Barroso, Markus Weiler, Isabel Conceição, Shiangtung W. Jung, Gustavo Buchele, Michela Brambatti, Jersey Chen, Steven G. Hughes, Eugene Schneider, Nicholas J. Viney, Ahmad Masri, Morie R. Gertz, Yukio Ando, Julian D. Gillmore, Sami Khella, P. James B. Dyck, Márcia Waddington Cruz

JAMA. 2023 Oct 17; 330(15): 1448–1458. Published online 2023 Sep 28. doi: 10.1001/jama.2023.18688

PMCID:: PMC10540057

Article

Select item 1051622013.

Eosinophilic infiltration as the initial trace of acute mixed cellular and antibody mediated rejection in a heart transplant patient with concomitant immense epitope-associated HLA-antibody production: a case report

Marie Skougaard, Steen Bærentzen, Hans Eiskjær, Pernille Koefoed-Nielsen

Front Immunol. 2023; 14: 1207373. Published online 2023 Sep 8. doi: 10.3389/fimmu.2023.1207373

PMCID:: PMC10516220

Article PDF–7.2M

Select item 1011144614.

SARC Gene Mutation Is Associated With Myocardial Fibrosis Measured by Histopathology and Cardiac Magnetic Resonance in Patients With Hypertrophic Cardiomyopathy

Manyun Huang, Jian Zhang, Changpeng Song, Shuiyun Wang, Zhou Zhou, Hongyue Wang, Shihua Zhao, Kunlun Yin, Li Li, Shujuan Yang, Xinxin Zheng, Jie Lu, Xiaohong Huang

J Am Heart Assoc. 2023 Mar 7; 12(5): e028293. Published online 2023 Feb 21. doi: 10.1161/JAHA.122.028293

PMCID:: PMC10111446

Article PDF–1.1M

Select item 1005329015.

Lumican accumulates with fibrillar collagen in fibrosis in hypertrophic cardiomyopathy

Chloe Rixon, Kristine Andreassen, Xin Shen, Pugazendhi Murugan Erusappan, Vibeke Marie Almaas, Sheryl Palmero, Christen Peder Dahl, Thor Ueland, Ivar Sjaastad, William Edward Louch, Mathis Korseberg Stokke, Theis Tønnessen, Geir Christensen, Ida Gjervold Lunde

ESC Heart Fail. 2023 Apr; 10(2): 858–871. Published online 2022 Nov 29. doi: 10.1002/ehf2.14234

PMCID:: PMC10053290

Article PDF–8.2M

Select item 994616916.

Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy

Nay Aung, Luis R. Lopes, Stefan van Duijvenboden, Andrew R. Harper, Anuj Goel, Christopher Grace, Carolyn Y. Ho, William S. Weintraub, Christopher M. Kramer, Stefan Neubauer, Hugh C. Watkins, Steffen E. Petersen, Patricia B. Munroe

Circ Genom Precis Med. 2023 Feb; 16(1): e003716. Published online 2023 Jan 4. doi: 10.1161/CIRCGEN.122.003716

PMCID:: PMC9946169

Article PDF–684K

Select item 955332917.

Identification of the Immune Status of Hypertrophic Cardiomyopathy by Integrated Analysis of Bulk- and Single-Cell RNA Sequencing Data

Wei Zhao, Tianyu Wu, Jian Zhan, Zishuang Dong

Comput Math Methods Med. 2022; 2022: 7153491. Published online 2022 Oct 4. doi: 10.1155/2022/7153491

Retraction in:: Comput Math Methods Med. 2023; 2023: 9865861.

PMCID:: PMC9553329

Article

Select item 951462318.

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service

Objoon Trachoo, Teerapat Yingchoncharoen, Tawai Ngernsritrakul, Nareenart Iemwimangsa, Bhakbhoom Panthan, Sommon Klumsathian, Sasima Srisukh, Anucha Mukdadilok, Sithakom Phusanti, Angkana Charoenyingwattana, Takol Chareonsirisuthigul, Wasun Chantratita, Tarinee Tangcharoen

PLoS One. 2022; 17(9): e0267770. Published online 2022 Sep 27. doi: 10.1371/journal.pone.0267770

PMCID:: PMC9514623

Article PDF–1.0M

Select item 936530519.

Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance

Roy Huurman, Nikki van der Velde, Arend F L Schinkel, H Carlijne Hassing, Ricardo P J Budde, Marjon A van Slegtenhorst, Judith M A Verhagen, Alexander Hirsch, Michelle Michels

Eur Heart J Cardiovasc Imaging. 2022 Sep; 23(9): 1144–1154. Published online 2022 Jun 7. doi: 10.1093/ehjci/jeac099

PMCID:: PMC9365305

Article PDF–985K

Select item 930829720.

Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling

Sofija Vučković, Rafeeh Dinani, Edgar E. Nollet, Diederik W. D. Kuster, Jan Willem Buikema, Riekelt H. Houtkooper, Miranda Nabben, Jolanda van der Velden, Birgit Goversen

Stem Cell Res Ther. 2022; 13: 332. Published online 2022 Jul 23. doi: 10.1186/s13287-022-03021-9

PMCID:: PMC9308297

Article PDF–3.3M

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