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2023 16
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2026 13

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Page 1
Lamin A/C deficiency-mediated ROS elevation contributes to pathogenic phenotypes of dilated cardiomyopathy in iPSC model.
Qiu H, Sun Y, Wang X, Gong T, Su J, Shen J, Zhou J, Xia J, Wang H, Meng X, Fu G, Zhang D, Jiang C, Liang P. Qiu H, et al. Nat Commun. 2024 Aug 14;15(1):7000. doi: 10.1038/s41467-024-51318-5. Nat Commun. 2024. PMID: 39143095 Free PMC article.
Elevated reactive oxygen species (ROS) then activates the Ca(2+)/calmodulin-dependent protein kinase II (CaMKII)-ryanodine receptor 2 (RYR2) pathway and aggravates the accumulation of SUN1 in mutant iPSC-CMs, contributing to arrhythmias and NE deformat …
Elevated reactive oxygen species (ROS) then activates the Ca(2+)/calmodulin-dependent protein kinase II (CaMKII)-ryanodine recepto …
Maturation of human cardiac organoids enables complex disease modeling and drug discovery.
Pocock MW, Reid JD, Robinson HR, Charitakis N, Krycer JR, Foster SR, Fitzsimmons RL, Lor M, Devilée LAC, Batho CAP, Tuano N, Howden SE, Vlahos K, Watt KI, Piers AT, Bibby K, McNamara JW, Sutton R, Iaprintsev V, Mathew J, Voges HK, Fortuna PRJ, Bass-Stringer S, Vivien C, Rae J, Parton RG, Firulli AB, Lisowski L, Huckstep H, Humphrey SJ, Lal S, Konstantinov IE, Weintraub RG, Elliott DA, Ramialison M, Porrello ER, Mills RJ, Hudson JE. Pocock MW, et al. Nat Cardiovasc Res. 2025 Jul;4(7):821-840. doi: 10.1038/s44161-025-00669-3. Epub 2025 Jun 25. Nat Cardiovasc Res. 2025. PMID: 40562874 Free PMC article.
Specifically, transient activation of 5' AMP-activated protein kinase and estrogen-related receptor enhanced cardiomyocyte maturation, inducing expression of mature sarcomeric and oxidative phosphorylation proteins, and increasing metabolic capacity. hCOs generated using the dire …
Specifically, transient activation of 5' AMP-activated protein kinase and estrogen-related receptor enhanced cardiomyocyte maturation, induc …
Calmodulin Mutations in Human Disease.
Hussey JW, Limpitikul WB, Dick IE. Hussey JW, et al. Channels (Austin). 2023 Dec;17(1):2165278. doi: 10.1080/19336950.2023.2165278. Channels (Austin). 2023. PMID: 36629534 Free PMC article. Review.
Research into disease-associated CaM variants has identified several proteins modulated by CaM that are likely to underlie the pathogenesis of these calmodulinopathies, including the cardiac L-type Ca(2+) channel (LTCC) Ca(V)1.2, and the sarcoplasmic reticulum Ca(2+) release chan …
Research into disease-associated CaM variants has identified several proteins modulated by CaM that are likely to underlie the pathogenesis …
Structural basis for ryanodine receptor type 2 leak in heart failure and arrhythmogenic disorders.
Miotto MC, Reiken S, Wronska A, Yuan Q, Dridi H, Liu Y, Weninger G, Tchagou C, Marks AR. Miotto MC, et al. Nat Commun. 2024 Sep 15;15(1):8080. doi: 10.1038/s41467-024-51791-y. Nat Commun. 2024. PMID: 39278969 Free PMC article.
Here, we solved the cryogenic electron microscopy structures of ryanodine receptor 2 variants linked either to heart failure or inherited sudden cardiac death. ...We propose a structural-physiological mechanism whereby the ryanodine receptor …
Here, we solved the cryogenic electron microscopy structures of ryanodine receptor 2 variants linked either to heart fa …
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target.
Duan H, Ren J, Wei S, Yang Z, Li C, Wang Z, Li M, Wei Z, Liu Y, Wang X, Lan H, Zeng Z, Xie M, Xie Y, Wu S, Hu W, Guo C, Zhang X, Liang L, Yu C, Mou Y, Jiang Y, Li H, Sugarman E, Deek RA, Chen Z, Li T, Chen Y, Yao M, Chen L, Liu L, Zhang G, Mou Y. Duan H, et al. Genome Med. 2024 Nov 26;16(1):138. doi: 10.1186/s13073-024-01410-8. Genome Med. 2024. PMID: 39593114 Free PMC article.
We also observed that mutations in a subset of genes were almost always shared by both primary lung cancers and LC-BrM lesions, including TTN, TP53, MUC16, LRP1B, RYR2, and EGFR. In addition, the genome-wide landscape of somatic copy number alterations was similar between …
We also observed that mutations in a subset of genes were almost always shared by both primary lung cancers and LC-BrM lesions, including TT …
CPVT1 point mutations in RyR2 S5 and S6 segments and their Ca(2+) signaling consequence.
Zhang XH, Donch GE, Yamaguchi N, Morad M. Zhang XH, et al. Cell Calcium. 2025 Dec;132:103081. doi: 10.1016/j.ceca.2025.103081. Epub 2025 Sep 14. Cell Calcium. 2025. PMID: 40974955 Free PMC article.
Precise activation of cardiac ryanodine receptor (RyR2) by small influx of Ca(2+) during the action potential triggers the release of SR Ca(2+) that activates contraction, a process known as Ca(2+)-induced Ca(2+) release (CICR). Missense mutations in RyR2 often caus …
Precise activation of cardiac ryanodine receptor (RyR2) by small influx of Ca(2+) during the action potential triggers the release of …
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.
Gnazzo M, Parlapiano G, Di Lorenzo F, Perrino D, Genovese S, Lanari V, Righi D, Calì F, Silvetti MS, Falcone E, Bauleo A, Drago F, Novelli A, Baban A. Gnazzo M, et al. Biomolecules. 2024 Nov 15;14(11):1450. doi: 10.3390/biom14111450. Biomolecules. 2024. PMID: 39595626 Free PMC article.
We underlie the utility of identifying CNVs by investigating the literature data and internally analyzing cohorts with CNVs in KCNQ1, KCNH2, SCN5A, and RYR2. CNVs were reported in 119 patients from the literature and 21 from our cohort. Young patients with CNVs in KCNQ1 sh …
We underlie the utility of identifying CNVs by investigating the literature data and internally analyzing cohorts with CNVs in KCNQ1, KCNH2, …
TRIM24 regulates chromatin remodeling and calcium dynamics in cardiomyocytes.
Neu M, Deshpande A, Borlepawar A, Hammer E, Alameldeen A, Vöcking P, Seeger T, Hausmann M, Frey N, Rangrez AY. Neu M, et al. Cell Commun Signal. 2025 Jul 1;23(1):312. doi: 10.1186/s12964-025-02323-8. Cell Commun Signal. 2025. PMID: 40598158 Free PMC article.
Furthermore, TRIM24 overexpression altered the expression and organization of Ryanodine Receptor 2 (RyR2), Sarcoplasmic/endoplasmic Reticulum Ca(2+) ATPase 2a (SERCA2a), and Calsequestrin 1 (CASQ1), leading to calcium-handling defects. ...
Furthermore, TRIM24 overexpression altered the expression and organization of Ryanodine Receptor 2 (RyR2), Sarco …
Decreased RYR2 Cluster Size and Abnormal SR Ca(2+) Release Contribute to Arrhythmogenesis in TMEM43-Related ARVC.
Shen J, Wang X, Fan H, Sun Y, Gong T, Qiu H, Wang J, Pan Z, Dang Y, Wang H, Zhou D, Zhu T, Wang H, Chen X, Xu L, Su J, Yang F, Tang Y, Li X, Yang B, Zhuang L, Wang W, Jiang C, Liang P. Shen J, et al. Adv Sci (Weinh). 2025 Dec;12(45):e12058. doi: 10.1002/advs.202512058. Epub 2025 Sep 15. Adv Sci (Weinh). 2025. PMID: 40948388 Free PMC article.
Mechanistically, TMEM43 interacts with lamin B2, and the TMEM43-P386S mutation induces lamin B2 mislocalization and abnormal nuclear envelope structure in ARVC iPSC-CMs, resulting in decreased chromatin opening of promoters associated with downregulated genes, including ryanod …
Mechanistically, TMEM43 interacts with lamin B2, and the TMEM43-P386S mutation induces lamin B2 mislocalization and abnormal nuclear envelop …
Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts.
Hirono K, Hata Y, Ichimata S, Nishida N, Imamura T, Asano Y, Kuramoto Y, Tsuboi K, Takarada S, Okabe M, Nakaoka H, Ibuki K, Ozawa S, Muneuchi J, Yasuda K, Urayama K, Oka H, Miyamoto T, Baba K, Kato A, Saiki H, Kuwabara N, Harada M, Baba S, Morikawa M, Iwasaki H, Hirata Y, Ito Y, Sakaguchi H, Urata S, Toda K, Kittaka E, Okada S, Hasebe Y, Hoshino S, Fujii T, Mitsushita N, Nii M, Ogino K, Fujino M, Yoshida Y, Fukuda Y, Iwashima S, Takigiku K, Sakata Y, Inuzuka R, Maeda J, Hayabuchi Y, Fujioka T, Namiki H, Fujita S, Nishida K, Kuraoka A, Kan N, Kido S, Watanabe K, Ichida F. Hirono K, et al. Sci Rep. 2024 Dec 16;14(1):30469. doi: 10.1038/s41598-024-77360-3. Sci Rep. 2024. PMID: 39681577 Free PMC article.
The most identified gene was MYH7 (14.0%), followed by RYR2 (12.0%) and TPM1 (8.0%). LVRR was achieved in 47.5% of these patients. The left ventricular ejection fraction remained unchanged (31.4% to 39.8%, P = 0.1913) in patients with sarcomere gene variants and in those w …
The most identified gene was MYH7 (14.0%), followed by RYR2 (12.0%) and TPM1 (8.0%). LVRR was achieved in 47.5% of these patients. Th …
88 results