Výsledky vyhledávání - "Jan D H, Jongbloed"

Akademický článek

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

Autor: Mohamed Z. Alimohamed, Helga Westers, Yvonne J. Vos, K. Joeri Van der Velde, Rolf H. Sijmons, Paul A. Van der Zwaag, Birgit Sikkema-Raddatz, Jan D. H. Jongbloed

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation sequencing (NGS). Rec

Externí odkaz: https://doaj.org/article/ad56929e4cb34a12b260f4de521ce77c

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Akademický článek

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)

A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimizatio

Externí odkaz: https://doaj.org/article/8256eeb26c5746a9a9e8d6dcd1fd68ae

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Functional investigation of two simultaneous or separately segregating DSP variants within a single family support the theory of a dose-dependent disease severity

Autor: Mathilde C. S. C. Vermeer, Daniela Andrei, Duco Kramer, Albertine M. Nijenhuis, Yvonne M. Hoedemaekers, Helga Westers, Jan D. H. Jongbloed, Hendri H. Pas, Maarten P. van den Berg, Herman H. W. Silljé, Peter van der Meer, Maria C. Bolling

Publikováno v: Experimental dermatology, 31(6), 970-979. Blackwell Publishing Ltd

Desmoplakin (DP) is an important component of desmosomes, essential in cell-cell connecting structures in stress-bearing tissues. Over many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8890f8fa650c13048f6563c0db10cf37
https://research.rug.nl/en/publications/f18f342a-2852-4350-9e52-5c7076260c0b

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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Autor: Mark Jansen, Maike Schuldt, Beau O. van Driel, Amand F. Schmidt, Imke Christiaans, Saskia N. van der Crabben, Yvonne M. Hoedemaekers, Dennis Dooijes, Jan D. H. Jongbloed, Ludolf G. Boven, Ronald H. Lekanne Deprez, Arthur A. M. Wilde, Judith J. M. Jans, Jolanda van der Velden, Rudolf A. de Boer, J. Peter van Tintelen, Folkert W. Asselbergs, Annette F. Baas

Publikováno v: International journal of molecular sciences, 24(4):4031. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, 24(4):4031. MDPI AG
International Journal of Molecular Sciences, 24(4):4031. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 4031
International Journal of Molecular Sciences, 24, 4
International Journal of Molecular Sciences, 24
Jansen, M, Schuldt, M, van Driel, B O, Schmidt, A F, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Deprez, R H L, Wilde, A A M, Jans, J J M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W & Baas, A F 2023, ' Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants ', International Journal of Molecular Sciences, vol. 24, no. 4, 4031 . https://doi.org/10.3390/ijms24044031

Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among genotype-po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d72bb1c895193fff307bea1dc49f526e
https://pure.amc.nl/en/publications/untargeted-metabolomics-identifies-potential-hypertrophic-cardiomyopathy-biomarkers-in-carriers-of-mybpc3-founder-variants(d14b78ac-9af3-4c14-8c03-92cca76f9660).html

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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (

Autor: Edgar T, Hoorntje, Charlotte, Burns, Luisa, Marsili, Ben, Corden, Victoria N, Parikh, Gerard J, Te Meerman, Belinda, Gray, Ahmet, Adiyaman, Richard D, Bagnall, Daniela Q C M, Barge-Schaapveld, Maarten P, van den Berg, Marianne, Bootsma, Laurens P, Bosman, Gemma, Correnti, Johan, Duflou, Ruben N, Eppinga, Diane, Fatkin, Michael, Fietz, Eric, Haan, Jan D H, Jongbloed, Arnaud D, Hauer, Lien, Lam, Freyja H M, van Lint, Amrit, Lota, Carlo, Marcelis, Hugh J, McCarthy, Anneke M, van Mil, Rogier A, Oldenburg, Nicholas, Pachter, R Nils, Planken, Chloe, Reuter, Christopher, Semsarian, Jasper J, van der Smagt, Tina, Thompson, Jitendra, Vohra, Paul G A, Volders, Jaap I, van Waning, Nicola, Whiffin, Arthur, van den Wijngaard, Ahmad S, Amin, Arthur A M, Wilde, Gijs, van Woerden, Laura, Yeates, Dominica, Zentner, Euan A, Ashley, Matthew T, Wheeler, James S, Ware, J Peter, van Tintelen, Jodie, Ingles

Publikováno v: Circulation. Genomic and precision medicine.

Truncating variants in desmoplakin (Individuals withThere were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with aIn the largest series of individuals with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7142023d0a2271d92d9519c93025ddd3
https://pubmed.ncbi.nlm.nih.gov/36580316

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Akademický článek

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Publikováno v: PLoS ONE, Vol 13, Iss 8, p e0203078 (2018)

AIMS:Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the gene

Externí odkaz: https://doaj.org/article/8c4c11f0bd934c179abf128780e3a5e2

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International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

Publikováno v: James, Cynthia A; Jongbloed, Jan D H; Hershberger, Ray E; Morales, Ana; Judge, Daniel P; Syrris, Petros; Pilichou, Kalliopi; Domingo, Argelia Medeiros; Murray, Brittney; Cadrin-Tourigny, Julia; Lekanne Deprez, Ronald; Celeghin, Rudy; Protonotarios, Alexandros; Asatryan, Babken; Brown, Emily; Jordan, Elizabeth; McGlaughon, Jennifer; Thaxton, Courtney; Kurtz, C Lisa and van Tintelen, J Peter (2021). International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circulation. Genomic and precision medicine, 14(3), e003273. American Heart Association 10.1161/CIRCGEN.120.003273
Circulation. Genomic and Precision Medicine
Circulation-Genomic and precision medicine, 14(3), 273-284. LIPPINCOTT WILLIAMS & WILKINS
Circulation: Genomic and Precision Medicine, 14(3):e003273, 273-284. Lippincott Williams and Wilkins Ltd.

Supplemental Digital Content is available in the text.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf751d875add3ffb4035b93f61861a4
https://doi.org/10.1161/circgen.120.003273

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Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers

Autor: Esteban A, Lopera-Maya, Shuang, Li, Remco, de Brouwer, Ilja M, Nolte, Justin, van Breen, Jan D H, Jongbloed, Morris A, Swertz, Harold, Snieder, Lude, Franke, Cisca, Wijmenga, Rudolf A, de Boer, Patrick, Deelen, Paul A, van der Zwaag

Publikováno v: Journal of cardiovascular translational researchURLs.

The c.40_42delAGA variant in the phospholamban gene (PLN) has been associated with dilated and arrhythmogenic cardiomyopathy, with up to 70% of carriers experiencing a major cardiac event by age 70. However, there are carriers who remain asymptomatic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::973c5f2b05cf01f4b54159da4b6a629c
https://pubmed.ncbi.nlm.nih.gov/36622581

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The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes

Autor: Maarten P. van den Berg, Karin Y. van Spaendonck-Zwarts, Jan D. H. Jongbloed, Aryan Vink, Ludolf G. Boven, Bianca J.J.M. Brundel, Gideon J. du Marchie Sarvaas, Larissa M. Dorsch, Jolanda van der Velden, Albert J. H. Suurmeijer, Paul A. van der Zwaag, Diederik W. D. Kuster

Publikováno v: International Journal of Cardiology, 323(1), 251-258. Elsevier Ireland Ltd
Dorsch, L M, Kuster, D W D, Jongbloed, J D H, Boven, L G, van Spaendonck-Zwarts, K Y, Suurmeijer, A J H, Vink, A, du Marchie Sarvaas, G J, van den Berg, M P, van der Velden, J, Brundel, B J J M & van der Zwaag, P A 2021, ' The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes ', International Journal of Cardiology, vol. 323, no. 1, pp. 251-258 . https://doi.org/10.1016/j.ijcard.2020.08.101
International Journal of Cardiology, 323, 251-258. ELSEVIER IRELAND LTD
International journal of cardiology, 323, 251-258. Elsevier Ireland Ltd

Background - Variants within the alpha-tropomyosin gene (TPM1) cause dominantly inherited cardiomyopathies, including dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathy. Here we investigated whether TPM1 variants observed in DCM a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d7dc57073de47ab56ff7d1d3f38eb12
https://doi.org/10.1016/j.ijcard.2020.08.101

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BIO FOr CARE

Autor: Ludolf G. Boven, Yvonne M. Hoedemaekers, J. van der Velden, J. P. van Tintelen, A. A. M. Wilde, S. N. van der Crabben, Dennis Dooijes, Roy Huurman, Folkert W. Asselbergs, Jan D. H. Jongbloed, Judith J.M. Jans, Michelle Michels, Annette F. Baas, R. H. Lekanne Deprez, I. Christiaans, R. A. De Boer, Mandy Jansen

Publikováno v: Netherlands Heart Journal, 29, 6, pp. 318-29
Netherlands Heart Journal, 29(6), 318-329. Bohn Stafleu van Loghum
Jansen, M, Christiaans, I, van der Crabben, S N, Michels, M, Huurman, R, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, Jans, J J M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W & Baas, A F 2021, ' BIO FOr CARE : biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status ', Netherlands Heart Journal, vol. 29, no. 6, pp. 318-329 . https://doi.org/10.1007/s12471-021-01539-w
Netherlands heart journal, 29(6), 318-329. Bohn Stafleu van Loghum
Netherlands Heart Journal, 29, 318-29
Netherlands Heart Journal
Netherlands Heart Hournal, 29, 318-329. Bohn, Stafleu, Van Loghum

Background Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the MYBPC3 gene. HCM is an important cause of sudden cardiac death; however, overall prognosis is good and penetranc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ebb83ee15e629508d991092075c7e2
https://doi.org/10.1007/s12471-021-01539-w

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