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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, … See abstract for full author list ➔ Sheppard SE, et al. Among authors: van ierland y, van haeringen a, van slegtenhorst m. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function.
van Dijk SJ, Paalberends ER, Najafi A, Michels M, Sadayappan S, Carrier L, Boontje NM, Kuster DW, van Slegtenhorst M, Dooijes D, dos Remedios C, ten Cate FJ, Stienen GJ, van der Velden J. van Dijk SJ, et al. Among authors: van slegtenhorst m, van der velden j. Circ Heart Fail. 2012 Jan;5(1):36-46. doi: 10.1161/CIRCHEARTFAILURE.111.963702. Epub 2011 Dec 16. Circ Heart Fail. 2012. PMID: 22178992 Free article.
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
Witjas-Paalberends ER, Piroddi N, Stam K, van Dijk SJ, Oliviera VS, Ferrara C, Scellini B, Hazebroek M, ten Cate FJ, van Slegtenhorst M, dos Remedios C, Niessen HW, Tesi C, Stienen GJ, Heymans S, Michels M, Poggesi C, van der Velden J. Witjas-Paalberends ER, et al. Among authors: van dijk sj, van slegtenhorst m, van der velden j. Cardiovasc Res. 2013 Aug 1;99(3):432-41. doi: 10.1093/cvr/cvt119. Epub 2013 May 13. Cardiovasc Res. 2013. PMID: 23674513
Sites of phosphorylation in tau and factors affecting their regulation.
Anderton BH, Betts J, Blackstock WP, Brion JP, Chapman S, Connell J, Dayanandan R, Gallo JM, Gibb G, Hanger DP, Hutton M, Kardalinou E, Leroy K, Lovestone S, Mack T, Reynolds CH, Van Slegtenhorst M. Anderton BH, et al. Among authors: van slegtenhorst m. Biochem Soc Symp. 2001;(67):73-80. doi: 10.1042/bss0670073. Biochem Soc Symp. 2001. PMID: 11447841
Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations.
Witjas-Paalberends ER, Güçlü A, Germans T, Knaapen P, Harms HJ, Vermeer AM, Christiaans I, Wilde AA, Dos Remedios C, Lammertsma AA, van Rossum AC, Stienen GJ, van Slegtenhorst M, Schinkel AF, Michels M, Ho CY, Poggesi C, van der Velden J. Witjas-Paalberends ER, et al. Among authors: van rossum ac, van slegtenhorst m, van der velden j. Cardiovasc Res. 2014 Jul 15;103(2):248-57. doi: 10.1093/cvr/cvu127. Epub 2014 May 16. Cardiovasc Res. 2014. PMID: 24835277
136 results