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Items: 1 to 20 of 135

1.
Comprehensive transcriptome analysis reveals MSTRG.19853.1/ssc-miR-361-3p/NPPA axis is related to hypoxic adaptation in Tibetan pigs
Pan Li, Wei Cheng, Zhandui Pubu, Peng Shang, Hao Zhang, Bo Zhang
BMC Genomics. 2025; 26: 595. Published online 2025 Jul 1. doi: 10.1186/s12864-025-11783-8
PMCID:
PMC12211723
ArticlePDF–4.1M
2.
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis
Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Pascal de Groote, Laurence Faivre, Patricia Reant, Annick Toutain, Karine Nguyen, Bertrand Isidor, Anne-Claire Brehin, Lise Legrand, Estelle Gandjbakhch, Julie Proukhnitzky, Richard Isnard, Nicolas Mansencal, Jean-François Pruny, Jean-Pierre Rabes, Bruno Francou, Catherine Caillaud, Pascale Richard, Philippe Charron
Orphanet J Rare Dis. 2025; 20: 294. Published online 2025 Jun 10. doi: 10.1186/s13023-025-03815-z
PMCID:
PMC12153184
ArticlePDF–949K
3.
Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy
Kenta Sugiura, Toru Kubo, Shunsuke Inoue, Seitaro Nomura, Takanobu Yamada, Takashige Tobita, Yuki Kuramoto, Yohei Miyashita, Yoshihiro Asano, Yuri Ochi, Kazuya Miyagawa, Yuichi Baba, Tatsuya Noguchi, Takayoshi Hirota, Naohito Yamasaki, Hiroyuki Morita, Issei Komuro, Hiroaki Kitaoka
J Am Heart Assoc. 2025 Mar 18; 14(6): e038208. Published online 2025 Mar 7. doi: 10.1161/JAHA.124.038208
PMCID:
PMC12132613
ArticlePDF–812K
4.
HCM-Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure
Jitpisute Chunthorng-Orn, Maya Noureddine, Peter W. J. Dawson, Samuel O. Lord, Jimi Ng, Luke Boyton, Katja Gehmlich, Fiyaz Mohammed, Yu-Chiang Lai
Int J Mol Sci. 2025 Apr; 26(8): 3921. Published online 2025 Apr 21. doi: 10.3390/ijms26083921
PMCID:
PMC12027535
ArticlePDF–2.9M
5.
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review
Giuseppe Reynolds, Andrea Gazzin, Diana Carli, Stefania Massuras, Simona Cardaropoli, Maria Luca, Beatrice Defilippi, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa
Int J Mol Sci. 2025 Apr; 26(8): 3515. Published online 2025 Apr 9. doi: 10.3390/ijms26083515
PMCID:
PMC12027154
ArticlePDF–1.3M
6.
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
Marie Bahout, Gianmarco Severa, Emna Kamoun, Françoise Bouhour, Antoine Pegat, Annick Toutain, Emmeline Lagrange, Fanny Duval, Celine Tard, Elisa De la Cruz, Léonard Féasson, Agnès Jacquin-Piques, Pascale Richard, Corinne Métay, Michele Cavalli, Norma Beatriz Romero, Teresinha Evangelista, Guilhem Sole, Robert Yves Carlier, Pascal Laforêt, Blandine Acket, Anthony Behin, Gorka Fernández-Eulate, Sarah Léonard-Louis, Susana Quijano-Roy, Yann Pereon, Emmanuelle Salort-Campana, Aleksandra Nadaj-Pakleza, Marion Masingue, Edoardo Malfatti, Tanya Stojkovic, Rocío Nur Villar-Quiles
J Neurol Neurosurg Psychiatry. 2024 Oct; 96(5): e334263. Published online 2024 Oct 24. doi: 10.1136/jnnp-2024-334263
PMCID:
PMC12015026
ArticlePDF–2.2M
7.
Hypertrophic Cardiomyopathy-Associated CRYABR123W Activates Calcineurin, Reduces Calcium Sequestration, and Alters the CRYAB Interactome and the Proteomic Response to Pathological Hypertrophy
Andres Thorkelsson, Chun Chou, Audrey Tripp, Samia A. Ali, Jonas Galper, Michael T. Chin
Int J Mol Sci. 2025 Mar; 26(6): 2383. Published online 2025 Mar 7. doi: 10.3390/ijms26062383
PMCID:
PMC11941971
ArticlePDF–8.0M
8.
Cardiac MRI Strain as an Early Indicator of Myocardial Dysfunction in Hypertrophic Cardiomyopathy
Siqin Liu, Oumaima Laghzali, Shahriar Shalikar, Mara-Camelia Rusu, Lucie Carrier, Thoralf Niendorf, Min-Chi Ku
Int J Mol Sci. 2025 Feb; 26(4): 1407. Published online 2025 Feb 7. doi: 10.3390/ijms26041407
PMCID:
PMC11855820
ArticlePDF–20M
9.
Whole exome sequence reveals genetic profiles of primary cardiomyopathy and genotype-phenotype association in Chinese population
Rui-lin Liu, Yi-feng Yang, Ke Gong, Lei Wang, Yao Yao, Li Xie
BMC Genomics. 2025; 26: 150. Published online 2025 Feb 17. doi: 10.1186/s12864-025-11323-4
PMCID:
PMC11834636
ArticlePDF–1.5M
10.
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene
Concetta Valentina Tropeano, Chiara La Morgia, Alessandro Achilli, Luisa Iommarini, Gaia Tioli, Leonardo Caporali, Anna Olivieri, Maria Lucia Valentino, Rocco Liguori, Piero Barboni, Andrea Martinuzzi, Caterina Tonon, Raffaele Lodi, Antonio Torroni, Valerio Carelli, Anna Maria Ghelli
Int J Mol Sci. 2025 Feb; 26(3): 1116. Published online 2025 Jan 27. doi: 10.3390/ijms26031116
PMCID:
PMC11817157
ArticlePDF–2.3M
11.
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines
Emanuele Monda, Aaron Prosnitz, Rossella Aiello, Michele Lioncino, Gabrielle Norrish, Martina Caiazza, Fabrizio Drago, Meaghan Beattie, Marco Tartaglia, Maria Giovanna Russo, Steven D. Colan, Giulio Calcagni, Bruce D. Gelb, Juan Pablo Kaski, Amy E. Roberts, Giuseppe Limongelli
Circ Genom Precis Med. Author manuscript; available in PMC 2025 Feb 4.
Published in final edited form as: Circ Genom Precis Med. 2023 Aug; 16(4): 350–358. Published online 2023 May 18. doi: 10.1161/CIRCGEN.122.003861
PMCID:
PMC11791648
ArticlePDF–537K
12.
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review
Martina Magistrati, Luisa Zupin, Eleonora Lamantea, Enrico Baruffini, Daniele Ghezzi, Andrea Legati, Fulvio Celsi, Flora Maria Murru, Valeria Capaci, Maurizio Pinamonti, Rossana Bussani, Marco Carrozzi, Cristina Dallabona, Massimo Zeviani, Maria Teresa Bonati
Int J Mol Sci. 2025 Jan; 26(2): 846. Published online 2025 Jan 20. doi: 10.3390/ijms26020846
PMCID:
PMC11765995
ArticlePDF–3.3M
13.
Natural history and clinical outcomes of patients with hypertrophic cardiomyopathy from thin filament mutations
Tatiana Saul, Quan M. Bui, Alessia Argiro, Lucas Keyt, Iacopo Olivotto, Eric Adler
ESC Heart Fail. 2024 Dec; 11(6): 3501–3510. Published online 2024 May 21. doi: 10.1002/ehf2.14848
PMCID:
PMC11631233
ArticlePDF–1.1M
14.
Genotype–Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype
Tamara N. Kimball, Pamela Rivero‐García, Eduardo R. Argaiz, Jorge Eduardo Gaytan‐Arocha, Norma Ofelia Uribe Uribe, Juan José Morales Suárez
Mol Genet Genomic Med. 2024 Dec; 12(12): e70039. Published online 2024 Dec 2. doi: 10.1002/mgg3.70039
PMCID:
PMC11610007
ArticlePDF–1.0M
15.
Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms
Rui Dong, Xin Zhou, Haiyan Zhang, Bingyi Shi, Guohua Liu, Yi Liu
Hum Genomics. 2024; 18: 118. Published online 2024 Oct 29. doi: 10.1186/s40246-024-00683-9
PMCID:
PMC11520881
ArticlePDF–2.2M
16.
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry
Juan Pablo Kaski, Gabrielle Norrish, Juan Ramon Gimeno Blanes, Philippe Charron, Perry Elliott, Luigi Tavazzi, Michal Tendera, Cécile Laroche, Aldo P Maggioni, Anwar Baban, Diala Khraiche, Lidia Ziolkowska, Giuseppe Limongelli, Tiina Ojala, Matthias Gorenflo, Aris Anastasakis, Shaimaa Mostafa, Alida L P Caforio, the EORP Paediatric Cardiomyopathy Registry Investigators
Eur Heart J. 2024 Apr 21; 45(16): 1443–1454. Published online 2024 Mar 1. doi: 10.1093/eurheartj/ehae109
PMCID:
PMC11448693
ArticlePDF–531K
17.
Exercise Hemodynamics and Mitochondrial Oxidative Capacity in Disease Stages of Wild‐Type Transthyretin Amyloid Cardiomyopathy
Bertil Ladefoged, Anders Dahl Pedersen, Jacob Seefeldt, Bent Roni Ranghøj Nielsen, Hans Eiskjær, Emil Lichscheidt, Tor Clemmensen, Julian David Gillmore, Steen Hvitfeldt Poulsen
J Am Heart Assoc. 2024 Jul 2; 13(13): e034213. Published online 2024 Jun 27. doi: 10.1161/JAHA.124.034213
PMCID:
PMC11255680
ArticlePDF–2.2M
18.
Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases
Wipada Woravatin, Rattanasak Wongkomonched, Wichittra Tassaneeyakul, Mark Stoneking, Pattarapong Makarawate, Wibhu Kutanan
PLoS One. 2024; 19(7): e0307036. Published online 2024 Jul 11. doi: 10.1371/journal.pone.0307036
PMCID:
PMC11239017
ArticlePDF–1.4M
19.
Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias
Joyce C. Ohiri, Lisa Dellefave‐Castillo, Garima Tomar, Lisa Wilsbacher, Lubna Choudhury, David Y. Barefield, Dominic Fullenkamp, Anthony M. Gacita, Tanner O. Monroe, Lorenzo Pesce, Malorie Blancard, Lauren Vaught, Alfred L. George, Jr, Alexis R. Demonbreun, Megan J. Puckelwartz, Elizabeth M. McNally
J Am Heart Assoc. 2024 May 21; 13(10): e030467. Published online 2024 May 18. doi: 10.1161/JAHA.123.030467
PMCID:
PMC11179814
ArticlePDF–3.7M
20.
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy
Jiri Bonaventura, Ethan J. Rowin, Raymond H. Chan, Michael T. Chin, Veronika Puchnerova, Eva Polakova, Milan Macek, Jr, Pavel Votypka, Rebecca Batorsky, Gayani Perera, Benjamin Koethe, Josef Veselka, Barry J. Maron, Martin S. Maron
J Am Heart Assoc. 2024 May 21; 13(10): e033565. Published online 2024 May 17. doi: 10.1161/JAHA.123.033565
PMCID:
PMC11179794
ArticlePDF–1.3M

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