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MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: van spaendonck zwarts ky. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.
Postma AV, Rapp CK, Knoflach K, Volk AE, Lemke JR, Ackermann M, Regamey N, Latzin P, Celant L, Jansen SMA, Bogaard HJ, Ilgun A, Alders M, van Spaendonck-Zwarts KY, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling AC, Griese M. Postma AV, et al. Among authors: van spaendonck zwarts ky. Genet Med Open. 2023;1(1):100811. doi: 10.1016/j.gimo.2023.100811. Genet Med Open. 2023. PMID: 38230350 Free PMC article.
SMARCA4-associated schwannomatosis.
Chan-Pak-Choon F, Roca C, Chong AS, Nogué C, Dahlum S, Austin R, Mar Fan H, van Spaendonck-Zwarts KY, Lambie NK, Robertson T, Siebert R, Rivera B, Foulkes WD. Chan-Pak-Choon F, et al. Among authors: van spaendonck zwarts ky. Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14. Acta Neuropathol. 2023. PMID: 36786840 No abstract available.
Pathogenic variants in three families with distal muscle involvement.
Weterman MAJ, Bronk M, Jongejan A, Hoogendijk JE, Krudde J, Karjosukarso D, Goebel HH, Aronica E, Jöbsis GJ, van Ruissen F, van Spaendonck-Zwarts KY, de Visser M, Baas F. Weterman MAJ, et al. Among authors: van spaendonck zwarts ky. Neuromuscul Disord. 2023 Jan;33(1):58-64. doi: 10.1016/j.nmd.2022.11.007. Epub 2022 Nov 29. Neuromuscul Disord. 2023. PMID: 36539320 Free article.
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: van spaendonck zwarts ky. 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.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC. Vermeer MCSC, et al. Among authors: van spaendonck zwarts ky. Br J Dermatol. 2022 Dec;187(6):1045-1048. doi: 10.1111/bjd.21832. Epub 2022 Sep 9. Br J Dermatol. 2022. PMID: 35975634 Free PMC article.
Titin Circular RNAs Create a Back-Splice Motif Essential for SRSF10 Splicing.
Tijsen AJ, Cócera Ortega L, Reckman YJ, Zhang X, van der Made I, Aufiero S, Li J, Kamps SC, van den Bout A, Devalla HD, van Spaendonck-Zwarts KY, Engelhardt S, Gepstein L, Ware JS, Pinto YM. Tijsen AJ, et al. Among authors: van spaendonck zwarts ky. Circulation. 2021 Apr 13;143(15):1502-1512. doi: 10.1161/CIRCULATIONAHA.120.050455. Epub 2021 Feb 15. Circulation. 2021. PMID: 33583186 Free PMC article.
The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes.
Dorsch LM, Kuster DWD, Jongbloed JDH, Boven LG, van Spaendonck-Zwarts KY, Suurmeijer AJH, Vink A, du Marchie Sarvaas GJ, van den Berg MP, van der Velden J, Brundel BJJM, van der Zwaag PA. Dorsch LM, et al. Among authors: van spaendonck zwarts ky. Int J Cardiol. 2021 Jan 15;323:251-258. doi: 10.1016/j.ijcard.2020.08.101. Epub 2020 Sep 1. Int J Cardiol. 2021. PMID: 32882290 Free article.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: van spaendonck zwarts ky. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA, van Spaendonck-Zwarts KY, Tanck MWT, van Tintelen JP, Christiaans I, van der Smagt J, Vermeer A, Bos JM, Moss AJ, Swan H, Priori SG, Rydberg A, Tfelt-Hansen J, Ackerman MJ, Olivotto I, Charron P, Gimeno JR, van den Berg M, Wilde AAM, Pinto YM. Jansweijer JA, et al. Among authors: van spaendonck zwarts ky. Open Heart. 2019 May 28;6(1):e000929. doi: 10.1136/openhrt-2018-000929. eCollection 2019. Open Heart. 2019. PMID: 31245010 Free PMC article.
50 results