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Select item 89899201.

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

Michaela Yuen, Lisa Worgan, Jessika Iwanski, Christopher T. Pappas, Himanshu Joshi, Jared M. Churko, Susan Arbuckle, Edwin P. Kirk, Ying Zhu, Tony Roscioli, Carol C. Gregorio, Sandra T. Cooper

Eur J Hum Genet. 2022 Apr; 30(4): 450–457. Published online 2022 Jan 26. doi: 10.1038/s41431-022-01043-8

PMCID:: PMC8989920

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Select item 87082632.

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome

Sofia Barbosa-Gouveia, Maria E. Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L. Valverde, Judith Armstrong-Moron, Maria del Carmen Fons-Estupiña, Liesbeth T. Wintjes, Antonia Kappen, Richard J. Rodenburg, Maria L. Couce

Int J Mol Sci. 2021 Dec; 22(24): 13484. Published online 2021 Dec 15. doi: 10.3390/ijms222413484

PMCID:: PMC8708263

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Select item 80597453.

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

Jingwen Tao, Jialin Duan, Xiu Pi, Hong Wang, Sheng Li

J Clin Lab Anal. 2021 Apr; 35(4): e23736. Published online 2021 Feb 24. doi: 10.1002/jcla.23736

PMCID:: PMC8059745

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Select item 80263984.

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, Mehrnoush Toufan Tabrizi, Alex Yui Bong Wan, Reza Maroofian, Mohammad Yazdchi, Michael Leon Enrique Garcia, Hamid Galehdari, Camila Hesse, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, Hayley Goullée, Nigel Laing, Yalda Jamshidi, Homa Tajsharghi

Genet Med. 2021; 23(4): 787–792. Published online 2020 Dec 8. doi: 10.1038/s41436-020-01028-2

PMCID:: PMC8026398

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Select item 74498755.

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

Ryouhei Komaki, Yasumasa Hashimoto, Madoka Mori-Yoshimura, Yasushi Oya, Hotake Takizawa, Narihiro Minami, Ichizo Nishino, Yoshitsugu Aoki, Yuji Takahashi

J Hum Genet. 2020; 65(10): 903–909. Published online 2020 Jun 5. doi: 10.1038/s10038-020-0788-9

PMCID:: PMC7449875

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Select item 60240706.

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia

Jin Tang, Xueqin Song, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang

Medicine (Baltimore) 2018 Jun; 97(24): e11074. Published online 2018 Jun 15. doi: 10.1097/MD.0000000000011074

PMCID:: PMC6024070

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Select item 99076777.

A spectrum of clinical severity of recessive titinopathies in prenatal

Yiming Qi, Xueqi Ji, Hongke Ding, Yunan Wang, Xin Liu, Yan Zhang, Aihua Yin

Front Genet. 2022; 13: 1064474. Published online 2023 Jan 25. doi: 10.3389/fgene.2022.1064474

PMCID:: PMC9907677

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Select item 96025498.

Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family

Farbod Sedaghat-Hamedani, Sabine Rebs, Elham Kayvanpour, Chenchen Zhu, Ali Amr, Marion Müller, Jan Haas, Jingyan Wu, Lars M. Steinmetz, Philipp Ehlermann, Katrin Streckfuss-Bömeke, Norbert Frey, Benjamin Meder

Int J Mol Sci. 2022 Oct; 23(20): 12230. Published online 2022 Oct 13. doi: 10.3390/ijms232012230

PMCID:: PMC9602549

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Select item 87670279.

Novel Mutations in β-MYH7 Gene in Indian Patients With Dilated Cardiomyopathy

Deepa Selvi Rani, Archana Vijaya Kumar, Pratibha Nallari, Katakam Sampathkumar, Perundurai S. Dhandapany, Calambur Narasimhan, Andiappan Rathinavel, Kumarasamy Thangaraj

CJC Open. 2022 Jan; 4(1): 1–11. Published online 2021 Aug 8. doi: 10.1016/j.cjco.2021.07.020

PMCID:: PMC8767027

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Select item 731982810.

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging

Shawn Lyo, Jeremy Miles, Jay Meisner, Mark Guelfguat

Eur Heart J Case Rep. 2020 Jun; 4(3): 1–6. Published online 2020 May 3. doi: 10.1093/ehjcr/ytaa078

PMCID:: PMC7319828

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Select item 534333811.

A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome

M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus, V Kučinskas

Balkan J Med Genet. 2016 Dec 1; 19(2): 95–100. Published online 2016 Dec 31. doi: 10.1515/bjmg-2016-0043

PMCID:: PMC5343338

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Select item 643744512.

Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy

Akihiko Hodatsu, Noboru Fujino, Yuki Uyama, Osamu Tsukamoto, Atsuko Imai‐Okazaki, Satoru Yamazaki, Osamu Seguchi, Tetsuo Konno, Kenshi Hayashi, Masa‐aki Kawashiri, Yoshihiro Asano, Masafumi Kitakaze, Seiji Takashima, Masakazu Yamagishi

ESC Heart Fail. 2019 Apr; 6(2): 406–415. Published online 2019 Jan 28. doi: 10.1002/ehf2.12410

PMCID:: PMC6437445

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Select item 566611313.

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

Upasana Tayal, Simon Newsome, Rachel Buchan, Nicola Whiffin, Brian Halliday, Amrit Lota, Angharad Roberts, A. John Baksi, Inga Voges, Will Midwinter, Alijca Wilk, Risha Govind, Roddy Walsh, Piers Daubeney, Julian W.E. Jarman, Resham Baruah, Michael Frenneaux, Paul J. Barton, Dudley Pennell, James S. Ware, Sanjay K. Prasad, Stuart A. Cook

J Am Coll Cardiol. 2017 Oct 31; 70(18): 2264–2274. doi: 10.1016/j.jacc.2017.08.063

PMCID:: PMC5666113

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Select item 507453214.

A Human Phospholamban Promoter Polymorphism in Dilated Cardiomyopathy Alters Transcriptional Regulation by Glucocorticoids

Kobra Haghighi, Guoli Chen, Yoji Sato, Guo-Chang Fan, Suiwen He, Fotis Kolokathis, Luke Pater, Ioannis Paraskevaidis, W. Keith. Jones, Gerald W. Dorn, II, Dimitrios Th. Kremastinos, Evangelia G. Kranias

Hum Mutat. Author manuscript; available in PMC 2016 Oct 21.

Published in final edited form as: Hum Mutat. 2008 May; 29(5): 640–647. doi: 10.1002/humu.20692

PMCID:: PMC5074532

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Select item 256451115.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co‐chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome‐like condition

K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge

J Med Genet. 2006 May; 43(5): 385–393. Published online 2005 Aug 3. doi: 10.1136/jmg.2005.036657

PMCID:: PMC2564511

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Select item 1021867016.

Modeling Duchenne Muscular Dystrophy Cardiomyopathy with Patients’ Induced Pluripotent Stem-Cell-Derived Cardiomyocytes

Binyamin Eisen, Ofer Binah

Int J Mol Sci. 2023 May; 24(10): 8657. Published online 2023 May 12. doi: 10.3390/ijms24108657

PMCID:: PMC10218670

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Select item 1021823517.

An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs

Eva Furrow, Nicole Tate, Katie Minor, Shannon Martinson, Shannon Larrabee, Marjukka Anttila, Meg Sleeper, Paula Henthorn

Genes (Basel) 2023 May; 14(5): 988. Published online 2023 Apr 27. doi: 10.3390/genes14050988

PMCID:: PMC10218235

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Select item 1021815118.

NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported

Laura Torres-Juan, Yolanda Rico, Elena Fortuny, Jaume Pons, Rafael Ramos, Fernando Santos-Simarro, Víctor Asensio, Iciar Martinez, Damian Heine-Suñer

Int J Mol Sci. 2023 May; 24(10): 8644. Published online 2023 May 12. doi: 10.3390/ijms24108644

PMCID:: PMC10218151

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Select item 1021137419.

Dual loss of regulator of G protein signaling 2 and 5 exacerbates ventricular myocyte arrhythmias and disrupts the fine-tuning of G_i/o signaling

Shelby A. Dahlen, Tyler F. Bernadyn, Alethia J. Dixon, Bo Sun, Jingsheng Xia, Elizabeth A. Owens, Patrick Osei-Owusu

J Mol Cell Cardiol. Author manuscript; available in PMC 2023 May 25.

Published in final edited form as: J Mol Cell Cardiol. 2022 Sep; 170: 34–46. Published online 2022 Jun 2. doi: 10.1016/j.yjmcc.2022.05.009

PMCID:: PMC10211374

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Select item 1020420020.

Targeting unfolded protein response reverts ER stress and ER Ca²⁺ homeostasis in cardiomyocytes expressing the pathogenic variant of Lamin A/C R321X

Giusy Pietrafesa, Roberta De Zio, Simona Ida Scorza, Maria Francesca Armentano, Martino Pepe, Cinzia Forleo, Giuseppe Procino, Andrea Gerbino, Maria Svelto, Monica Carmosino

J Transl Med. 2023; 21: 340. Published online 2023 May 22. doi: 10.1186/s12967-023-04170-y