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The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA, Piers SRD, Wessels MW, Houweling AC, Bökenkamp R, Bootsma M, Bosman LP, Evertz R, Hellebrekers DMEI, Hoedemaekers YM, Knijnenburg J, Lekanne Deprez R, van Mil AM, Te Riele ASJM, van Slegtenhorst MA, Wilde AAM, Yap SC, Dooijes D, Koopmann TT, van Tintelen JP, Barge-Schaapveld DQCM; European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart. Bos TA, et al. Neth Heart J. 2023 Aug;31(7-8):315-323. doi: 10.1007/s12471-023-01791-2. Epub 2023 Jul 28. Neth Heart J. 2023. PMID: 37505369 Free PMC article.
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.
Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, Dewey FE, Overton JD, Reid JG, Shuldiner AR, Baras A, Sampson KJ, Bleda M, Hadinnapola C, Haimel M, Bogaard HJ, Church C, Coghlan G, Corris PA, Eyries M, Gibbs JSR, Girerd B, Houweling AC, Humbert M, Guignabert C, Kiely DG, Lawrie A, MacKenzie Ross RV, Martin JM, Montani D, Peacock AJ, Pepke-Zaba J, Soubrier F, Suntharalingam J, Toshner M, Treacy CM, Trembath RC, Vonk Noordegraaf A, Wharton J, Wilkins MR, Wort SJ, Yates K, Gräf S, Morrell NW, Krishnan U, Rosenzweig EB, Shen Y, Nichols CG, Kass RS, Chung WK. Bohnen MS, et al. Circ Genom Precis Med. 2018 Oct;11(10):e002087. doi: 10.1161/CIRCGEN.118.002087. Circ Genom Precis Med. 2018. PMID: 30354297 Free PMC article.
Induction of CCAAT/enhancer-binding protein (C/EBP)-homologous protein/growth arrest and DNA damage-inducible protein 153 expression during inhibition of phosphatidylcholine synthesis is mediated via activation of a C/EBP-activating transcription factor-responsive element.
van der Sanden MH, Meems H, Houweling M, Helms JB, Vaandrager AB. van der Sanden MH, et al. J Biol Chem. 2004 Dec 10;279(50):52007-15. doi: 10.1074/jbc.M405577200. Epub 2004 Oct 4. J Biol Chem. 2004. PMID: 15466475 Free article.
Taken together, our results suggest that increased expression of CHOP during PC depletion depends on a C/EBP-ATF element in its promoter and might be mediated by binding of ATF2 to this element....
Taken together, our results suggest that increased expression of CHOP during PC depletion depends on a C/EBP-ATF element in it …
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Houweling AC, Scholman KT, Wakker V, Allaart CP, Uhm JS, Mathijssen IB, Baartscheer T, Postma AV, Barnett P, Verkerk AO, Boukens BJ, Christoffels VM. van Ouwerkerk AF, et al. Circulation. 2022 Feb 22;145(8):606-619. doi: 10.1161/CIRCULATIONAHA.121.054347. Epub 2022 Feb 3. Circulation. 2022. PMID: 35113653 Free PMC article.
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. 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.
Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.
Verstraelen TE, van Lint FHM, Bosman LP, de Brouwer R, Proost VM, Abeln BGS, Taha K, Zwinderman AH, Dickhoff C, Oomen T, Schoonderwoerd BA, Kimman GP, Houweling AC, Gimeno-Blanes JR, Asselbergs FW, van der Zwaag PA, de Boer RA, van den Berg MP, van Tintelen JP, Wilde AAM. Verstraelen TE, et al. Eur Heart J. 2021 Jul 31;42(29):2842-2850. doi: 10.1093/eurheartj/ehab294. Eur Heart J. 2021. PMID: 34113975 Free PMC article.
Applying the existing PLN risk model to the complete cohort yielded a C-statistic of 0.68 (95% CI 0.61-0.75). CONCLUSION: This new mutation-specific prediction model for individual VA risk in PLN p.Arg14del mutation carriers is superior to the existing PLN risk mode …
Applying the existing PLN risk model to the complete cohort yielded a C-statistic of 0.68 (95% CI 0.61-0.75). CONCLUSION: This …
The Netherlands Heart Tissue Bank : Strengthening the cardiovascular research infrastructure with an open access Cardiac Tissue Repository.
Henkens MTHM, van Ast JF, Te Riele ASJM, Houweling AC, Amin AS, Nijveldt R, Antoni ML, Li X, Wehrens SMT, von der Thüsen JH, Damman K, Ter Horst EN, Manintveld OC, Abma-Schouten RY, Niessen HWM, Silljé HHW, Jukema JW, Doevendans PA. Henkens MTHM, et al. Neth Heart J. 2023 Jan;31(1):16-20. doi: 10.1007/s12471-022-01713-8. Epub 2022 Jul 27. Neth Heart J. 2023. PMID: 35896887 Free PMC article.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, Baas AF, Baysal Ö, van der Crabben SN, Dulfer E, Giesbertz NAA, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kempers MJE, Komdeur FL, Loeys B, Majoor-Krakauer D, Ockeloen CW, Overwater E, van Tintelen PJ, Voorendt M, de Waard V, Maugeri A, Brüggenwirth HT, van de Laar IMBH, Houweling AC. Demirdas S, et al. Circ Genom Precis Med. 2024 Apr 16:e003978. doi: 10.1161/CIRCGEN.122.003978. Online ahead of print. Circ Genom Precis Med. 2024. PMID: 38623759 Free article.
Mortality Risk Associated With Truncating Founder Mutations in Titin.
Jansen M, Baas AF, van Spaendonck-Zwarts KY, Ummels AS, van den Wijngaard A, Jongbloed JDH, van Slegtenhorst MA, Lekanne Deprez RH, Wessels MW, Michels M, Houweling AC, Hoorntje ET, Helderman-van den Enden PJTM, Barge-Schaapveld DQCM, Peter van Tintelen J, van den Berg MP, Wilde AAM, Ploos van Amstel HK, Hennekam EAM, Asselbergs FW, Sijbrands EJG, Dooijes D. Jansen M, et al. Circ Genom Precis Med. 2019 May;12(5):e002436. doi: 10.1161/CIRCGEN.118.002436. Circ Genom Precis Med. 2019. PMID: 31112426
ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy.
van de Leur RR, de Brouwer R, Bleijendaal H, Verstraelen TE, Mahmoud B, Perez-Matos A, Dickhoff C, Schoonderwoerd BA, Germans T, Houweling A, van der Zwaag PA, Cox MGPJ, Peter van Tintelen J, Te Riele ASJM, van den Berg MP, Wilde AAM, Doevendans PA, de Boer RA, van Es R. van de Leur RR, et al. Heart Rhythm. 2024 Feb 23:S1547-5271(24)00210-8. doi: 10.1016/j.hrthm.2024.02.038. Online ahead of print. Heart Rhythm. 2024. PMID: 38403235 Free article.
RESULTS: The deep learning-based ECG-only approach was able to predict MVA with a C statistic of 0.79 (95% CI, 0.76-0.83), comparable to the current prediction model (C statistic, 0.83 [95% CI, 0.79-0.88]; P = .054) and outperforming a model based on conventional EC …
RESULTS: The deep learning-based ECG-only approach was able to predict MVA with a C statistic of 0.79 (95% CI, 0.76-0.83), com …
16 results