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Kir6.1 and SUR2B in Cantú syndrome.
McClenaghan C, Nichols CG. McClenaghan C, et al. Am J Physiol Cell Physiol. 2022 Sep 1;323(3):C920-C935. doi: 10.1152/ajpcell.00154.2022. Epub 2022 Jul 25. Am J Physiol Cell Physiol. 2022. PMID: 35876283 Free PMC article. Review.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
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. JCI Insight. 2021 Mar 8;6(5):e145934. doi: 10.1172/jci.insight.145934. JCI Insight. 2021. PMID: 33529173 Free PMC article.
13 results