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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. Among authors: mcclenaghan c. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 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.
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.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS, Knoers NVAM, Lee JM, Kirk EP, Scurr I, Smithson SF, Singh GK, van Haelst MM, Nichols CG, van Haaften G. Grange DK, et al. Among authors: mcclenaghan c. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681. doi: 10.1002/ajmg.c.31753. Am J Med Genet C Semin Med Genet. 2019. PMID: 31828977 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.
38 results