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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.
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
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