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Year Number of Results
2004 1
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2009 1
2010 2
2011 1
2012 3
2013 1
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2015 1
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2021 2
2022 2
2023 1
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19 results

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Page 1
KBTBD13 is a novel cardiomyopathy gene.
de Winter JM, Bouman K, Strom J, Methawasin M, Jongbloed JDH, van der Roest W, Wijngaarden JV, Timmermans J, Nijveldt R, van den Heuvel F, Kamsteeg EJ, van Engelen BG, Galli R, Bogaards SJP, Boon RA, van der Pijl RJ, Granzier H, Koeleman B, Amin AS, van der Velden J, van Tintelen JP, van den Berg MP, van Spaendonck-Zwarts KY, Voermans NC, Ottenheijm CAC. de Winter JM, et al. Among authors: bogaards sjp. Hum Mutat. 2022 Dec;43(12):1860-1865. doi: 10.1002/humu.24499. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36335629 Free PMC article.
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Landim-Vieira M, Ma W, Song T, Rastegarpouyani H, Gong H, Coscarella IL, Bogaards SJP, Conijn SP, Ottenheijm CAC, Hwang HS, Papadaki M, Knollmann BC, Sadayappan S, Irving TC, Galkin VE, Chase PB, Pinto JR. Landim-Vieira M, et al. Among authors: bogaards sjp. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2221244120. doi: 10.1073/pnas.2221244120. Epub 2023 May 30. Proc Natl Acad Sci U S A. 2023. PMID: 37252999 Free PMC article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: bogaards sj. J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000. J Clin Invest. 2020. PMID: 31671076 Free PMC article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: bogaards sj. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. No abstract available.
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC. Joureau B, et al. Among authors: bogaards sjp. Ann Neurol. 2018 Feb;83(2):269-282. doi: 10.1002/ana.25144. Epub 2018 Feb 6. Ann Neurol. 2018. PMID: 29328520 Free PMC article.
Muscle ankyrin repeat protein 1 (MARP1) locks titin to the sarcomeric thin filament and is a passive force regulator.
van der Pijl RJ, van den Berg M, van de Locht M, Shen S, Bogaards SJP, Conijn S, Langlais P, Hooijman PE, Labeit S, Heunks LMA, Granzier H, Ottenheijm CAC. van der Pijl RJ, et al. Among authors: bogaards sjp. J Gen Physiol. 2021 Jul 5;153(7):e202112925. doi: 10.1085/jgp.202112925. Epub 2021 Jun 21. J Gen Physiol. 2021. PMID: 34152365 Free PMC article.
19 results