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Page 1
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
Zhang H, Hanson A, de Almeida TS, Emfinger C, McClenaghan C, Harter T, Yan Z, Cooper PE, Brown GS, Arakel EC, Mecham RP, Kovacs A, Halabi CM, Schwappach B, Remedi MS, Nichols CG. Zhang H, et al. Among authors: mcclenaghan c. JCI Insight. 2021 Mar 8;6(5):e145934. doi: 10.1172/jci.insight.145934. JCI Insight. 2021. PMID: 33529173 Free PMC article.
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Huang Y, McClenaghan C, Harter TM, Hinman K, Halabi CM, Matkovich SJ, Zhang H, Brown GS, Mecham RP, England SK, Kovacs A, Remedi MS, Nichols CG. Huang Y, et al. Among authors: mcclenaghan c. JCI Insight. 2018 Aug 9;3(15):e121153. doi: 10.1172/jci.insight.121153. eCollection 2018 Aug 9. JCI Insight. 2018. PMID: 30089727 Free PMC article.
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.
Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, Dewey FE, Overton JD, Reid JG, Shuldiner AR, Baras A, Sampson KJ, Bleda M, Hadinnapola C, Haimel M, Bogaard HJ, Church C, Coghlan G, Corris PA, Eyries M, Gibbs JSR, Girerd B, Houweling AC, Humbert M, Guignabert C, Kiely DG, Lawrie A, MacKenzie Ross RV, Martin JM, Montani D, Peacock AJ, Pepke-Zaba J, Soubrier F, Suntharalingam J, Toshner M, Treacy CM, Trembath RC, Vonk Noordegraaf A, Wharton J, Wilkins MR, Wort SJ, Yates K, Gräf S, Morrell NW, Krishnan U, Rosenzweig EB, Shen Y, Nichols CG, Kass RS, Chung WK. Bohnen MS, et al. Among authors: mcclenaghan c. Circ Genom Precis Med. 2018 Oct;11(10):e002087. doi: 10.1161/CIRCGEN.118.002087. Circ Genom Precis Med. 2018. PMID: 30354297 Free PMC article.
Pulmonary Hypertension and ATP-Sensitive Potassium Channels.
McClenaghan C, Woo KV, Nichols CG. McClenaghan C, et al. Hypertension. 2019 Jul;74(1):14-22. doi: 10.1161/HYPERTENSIONAHA.119.12992. Epub 2019 May 28. Hypertension. 2019. PMID: 31132951 Free PMC article. Review. No abstract available.
Beta-cell excitability and excitability-driven diabetes in adult Zebrafish islets.
Emfinger CH, Lőrincz R, Wang Y, York NW, Singareddy SS, Ikle JM, Tryon RC, McClenaghan C, Shyr ZA, Huang Y, Reissaus CA, Meyer D, Piston DW, Hyrc K, Remedi MS, Nichols CG. Emfinger CH, et al. Among authors: mcclenaghan c. Physiol Rep. 2019 Jun;7(11):e14101. doi: 10.14814/phy2.14101. Physiol Rep. 2019. PMID: 31161721 Free PMC article.
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG. Ma A, et al. Among authors: mcclenaghan c. Am J Med Genet A. 2019 Aug;179(8):1585-1590. doi: 10.1002/ajmg.a.61200. Epub 2019 Jun 7. Am J Med Genet A. 2019. PMID: 31175705 Free PMC article.
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G. Smeland MF, et al. Among authors: mcclenaghan c. Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7. Nat Commun. 2019. PMID: 31575858 Free PMC article.
41 results