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Inositol 1,4,5-Trisphosphate Receptor 1 Gain-of-Function Increases the Risk for Cardiac Arrhythmias in Mice and Humans.
Sun B, Ni M, Li Y, Song Z, Wang H, Zhu HL, Wei J, Belke D, Cai S, Guo W, Yao J, Tian S, Estillore JP, Wang R, Sondergaard MT, Brohus M, Rohde PD, Mu Y, Vallmitjana A, Benitez R, Hove-Madsen L, Overgaard MT, Fishman GI, Chen J, Sanatani S, Wilde AAM, Fill M, Ramos-Franco J, Nyegaard M, Chen SRW. Sun B, et al. Among authors: estillore jp. Circulation. 2024 Dec 10. doi: 10.1161/CIRCULATIONAHA.124.070563. Online ahead of print. Circulation. 2024. PMID: 39655431 Free article.
A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.
Ni M, Dadon Z, Ormerod JOM, Saenen J, Hoeksema WF, Antiperovitch P, Tadros R, Christiansen MK, Steinberg C, Arnaud M, Tian S, Sun B, Estillore JP, Wang R, Khan HR, Roston TM, Mazzanti A, Giudicessi JR, Siontis KC, Alak A, Acosta JG, Divakara Menon SM, Tan NS, van der Werf C, Nazer B, Vivekanantham H, Pandya T, Cunningham J, Gula LJ, Wong JA, Amit G, Scheinman MM, Krahn AD, Ackerman MJ, Priori SG, Gollob MH, Healey JS, Sacher F, Nof E, Glikson M, Wilde AAM, Watkins H, Jensen HK, Postema PG, Belhassen B, Chen SRW, Roberts JD. Ni M, et al. Among authors: estillore jp. JAMA. 2024 Jul 16;332(3):204-213. doi: 10.1001/jama.2024.8599. JAMA. 2024. PMID: 38900490 Free PMC article.
Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction.
Ni M, Li Y, Wei J, Song Z, Wang H, Yao J, Chen YX, Belke D, Estillore JP, Wang R, Vallmitjana A, Benitez R, Hove-Madsen L, Feng W, Chen J, Roston TM, Sanatani S, Lehman A, Chen SRW. Ni M, et al. Among authors: estillore jp. Circ Res. 2023 Jul 7;133(2):177-192. doi: 10.1161/CIRCRESAHA.123.322504. Epub 2023 Jun 16. Circ Res. 2023. PMID: 37325910
A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice.
Sun B, Ni M, Tian S, Guo W, Cai S, Sondergaard MT, Chen Y, Mu Y, Estillore JP, Wang R, Chen J, Overgaard MT, Fill M, Ramos-Franco J, Nyegaard M, Wayne Chen SR. Sun B, et al. Among authors: estillore jp. J Cell Physiol. 2022 Aug;237(8):3305-3316. doi: 10.1002/jcp.30783. Epub 2022 May 27. J Cell Physiol. 2022. PMID: 35621185
Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.
Roston TM, Wei J, Guo W, Li Y, Zhong X, Wang R, Estillore JP, Peltenburg PJ, Noguer FRI, Till J, Eckhardt LL, Orland KM, Hamilton R, LaPage MJ, Krahn AD, Tadros R, Vinocur JM, Kallas D, Franciosi S, Roberts JD, Wilde AAM, Jensen HK, Sanatani S, Chen SRW. Roston TM, et al. Among authors: estillore jp. JAMA Cardiol. 2022 Jan 1;7(1):84-92. doi: 10.1001/jamacardio.2021.4458. JAMA Cardiol. 2022. PMID: 34730774 Free PMC article.
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