Results 121 to 130 of about 18,051 (238)

Loss of cardiac microRNA-mediated regulation leads to dilated cardiomyopathy and heart failure [PDF]

, 2009
Rationale: Heart failure is a deadly and devastating disease that places immense costs on an aging society. To develop therapies aimed at rescuing the failing heart, it is important to understand the molecular mechanisms underlying cardiomyocyte ...
Bauer, Michael, Blelloch, Robert, Chiang, H. Rosaria, Gupta, Sumeet, Jaenisch, Rudolf, Krieger, Monty, Liao, Ronglih, Lodish, Harvey F., Medvid, Rostislav, Rao, Prakash K., Reinhardt, Ferenc, Toyama, Yumiko   +11 more
core   +1 more source

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Genetics in Medicine, 2018
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for
M. Kelly, C. Caleshu, A. Morales, J. Buchan, Zena T. Wolf, S. Harrison, S. Cook, Mitchell W Dillon, John Garcia, Eden V. Haverfield, J. Jongbloed, D. Macaya, A. Manrai, Kate M. Orland, G. Richard, Katherine G Spoonamore, Matthew Thomas, K. Thomson, L. Vincent, R. Walsh, H. Watkins, N. Whiffin, J. Ingles, J. P. van Tintelen, C. Semsarian, J. Ware, R. Hershberger, B. Funke   +27 more
semanticscholar   +1 more source

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report

Pediatric Investigation, EarlyView.
Haoxuan Li, Yufei Xie, Qun Wu, Xiaomin Duan, Fangyun Wang, Xin Zhang, Jing Wang   +6 more
wiley   +1 more source

The Grey Zone Project: Risk‐Based Classification of ABCD1 Variants in X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Newborn screening (NBS) for X‐linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline‐elevated C26:0‐lysophosphatidylcholine (LPC(26:0 ...
Troy C. Lund, Kelly Miettunen, Yorrick R. J. Jaspers, Caroline Bergner, Joshua L. Bonkowsky, Fabio Bruschi, Julie S. Cohen, Inge M. E. Dijkstra, Florian S. Eichler, Eric J. Mallack, Gajja S. Salomons, Robert Thompson, Davide Tonduti, Keith P. van Haren, Mirjam M. C. Wamelink, Ayelet Zerem, Marc Engelen, Stephan Kemp   +17 more
wiley   +1 more source

Transcriptional and functional effects of mavacamten in multiple porcine and human models with hypertrophic cardiomyopathy

British Journal of Pharmacology, Volume 183, Issue 5, Page 1122-1139, March 2026.
Abstract Background and Purpose Mavacamten (MAVA) is a novel small molecule inhibitor of cardiac myosin, mitigating cardiomyocyte hypercontractility in patients with hypertrophic obstructive cardiomyopathy (HOCM). Despite its recent approval for clinical use, the transcriptional and functional impacts of MAVA remain not well understood.
Elisa Kiselev, Wilson Agyapong, Bjarne Jürgens, Elisa Mohr, Shambhabi Chatterjee, Hannah J. Hunkler, Jawad Salman, Giuseppe Cipriano, Marco Bentele, Junqing Liu, Jonas Specht, Kaja S. Menge, Florian J. G. Waleczek, Jonas A. Haas, Anselm A. Derda, Kristina Sonnenschein, Anika Gietz, Susanne Neumüller, Angelika Pfanne, Oliver Beetz, Michael Pflaum, Bettina Wiegmann, Yiangos Psaras, Christopher Toepfer, Robert Zweigerdt, Ante Radocaj, Theresia Kraft, Andre Zeug, Evgeni Ponimaskin, Wilhelm Korte, Alexander Horke, Arjang Ruhparwar, Maximilian Fuchs, Ke Xiao, Christian Bär, Natalie Weber, Thomas Thum   +36 more
wiley   +1 more source

Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion. [PDF]

, 2018
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive ...
Adamuz, C, Behr, ER, Homfray, T, Malhotra, A, Monserrat, L, Papadakis, M, Sharma, S, Sheikh, N, Wilson, M   +8 more
core   +2 more sources

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

Advanced Science, Volume 13, Issue 8, 9 February 2026.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen, Houcheng Li, Jinyan Teng, Zhen Wang, Xiaolu Qu, Zhe Chen, Xiaodian Cai, Haonan Zeng, Zhonghao Bai, Jinghui Li, Xiangchun Pan, Leyan Yan, Fei Wang, Lin Lin, Yonglun Luo, Goutam Sahana, Mogens Sandø Lund, Maria Ballester, Daniel Crespo‐Piazuelo, Peter Karlskov‐Mortensen, Merete Fredholm, Alex Clop, Marcel Amills, Crystal Loving, Christopher K. Tuggle, Ole Madsen, Jiaqi Li, Zhe Zhang, George E. Liu, Jicai Jiang, Lingzhao Fang, Guoqiang Yi   +31 more
wiley   +1 more source

A novel paternally-inherited MYH7 gene variant in brothers with left ventricular non-compaction

IHJ Cardiovascular Case Reports, 2018
We report the cases of two Caucasian brothers who both have the same paternally-inherited heterozygous MYH7 gene variant, R1832H. The defect was detected by whole exome sequence analysis.
Lily M. Moore, Sarosh P. Batlivala
doaj   +1 more source

Investigation of mutations in exons 19-23 MYH7 gene in hypertrophic cardiomyopathy patients using PCR-SSCP/HA technique in Chaharmahal va Bakhtiari province [PDF]

, 2013
زمینه و هدف: کاردیومایوپاتی هایپرتروفی (HCM) رایج ترین نوع از بیماری های قلبی است که 2/0 درصد از جمعیت جهان را تحت تأثیر قرار داده و همچنین رایج ترین علت مرگ قلبی ناگهانی در جوانان زیر 35 سال است.
Abolhasani, Marziyeh., Bagheri, Nader., Hashemzadeh-Chaleshtori, Morteza., Heydari, Somayeh., Heydari, Soraya., Khaledifar, Arsalan., Pourahmad-Jaktaji, Razieh., Reisi, Somayeh   +7 more
core  

Promoting Autophagy Mitigates Stress‐Induced Remodeling in Patient iPSC‐CMs with the Phospholamban R9C Mutation

Advanced Science, Volume 13, Issue 7, 3 February 2026.
The Phospholamban (PLN) R9C mutation reduces SERCA2a binding, increasing calcium recycling and baseline contractility. However, the excess of free PLN promotes pentamer formation, limiting phosphorylation and blunting β‐adrenergic signaling. Under cardiac stress, enhanced functional demands overwhelm proteostasis in PLN R9C cells, leading to misfolded ...
Qi Yu, Yawei Shen, Robert J. Barndt, Karim Sallam, Ying Tang, Cameron E. Brown, Xiao Li, Stephen Y. Chan, Joseph C. Wu, Qing Liu, Haodi Wu   +10 more
wiley   +1 more source