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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: boven l. 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.
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status.
Jansen M, Christiaans I, van der Crabben SN, Michels M, Huurman R, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Lekanne Deprez RH, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: boven lg. Neth Heart J. 2021 Jun;29(6):318-329. doi: 10.1007/s12471-021-01539-w. Epub 2021 Feb 2. Neth Heart J. 2021. PMID: 33532905 Free PMC article.
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
van Spaendonck-Zwarts KY, van der Kooi AJ, van den Berg MP, Ippel EF, Boven LG, Yee WC, van den Wijngaard A, Brusse E, Hoogendijk JE, Doevendans PA, de Visser M, Jongbloed JD, van Tintelen JP. van Spaendonck-Zwarts KY, et al. Among authors: boven lg. Neth Heart J. 2012 May;20(5):219-28. doi: 10.1007/s12471-011-0233-y. Neth Heart J. 2012. PMID: 22215463 Free PMC article.
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.
van der Linde IHM, Hiemstra YL, Bökenkamp R, van Mil AM, Breuning MH, Ruivenkamp C, Ten Broeke SW, Veldkamp RF, van Waning JI, van Slegtenhorst MA, van Spaendonck-Zwarts KY, Lekanne Deprez RH, Herkert JC, Boven L, van der Zwaag PA, Jongbloed JDH, Bootsma M, Barge-Schaapveld DQCM. van der Linde IHM, et al. Among authors: boven l. Neth Heart J. 2017 Dec;25(12):675-681. doi: 10.1007/s12471-017-1037-5. Epub 2017 Sep 1. Neth Heart J. 2017. PMID: 28864942 Free PMC article.
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers.
Jansen M, Schmidt AF, Jans JJM, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Lekanne Deprez RH, Wilde AAM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: boven lg. J Cardiovasc Transl Res. 2023 Dec;16(6):1267-1275. doi: 10.1007/s12265-023-10398-2. Epub 2023 Jun 6. J Cardiovasc Transl Res. 2023. PMID: 37278928 Free PMC article.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: boven lg. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: boven l. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
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. 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.
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP. van Tintelen JP, et al. Among authors: boven l. Heart Rhythm. 2009 Nov;6(11):1574-83. doi: 10.1016/j.hrthm.2009.07.041. Epub 2009 Jul 28. Heart Rhythm. 2009. PMID: 19879535
120 results