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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.
The gene for the proapoptotic transcription factor CCAAT/enhancer-binding protein (C/EBP)-homologous protein/growth arrest and DNA damage-inducible protein 153 (CHOP/GADD153) is induced by various cellular stresses. ...Taken together, our results suggest that increased exp …
The gene for the proapoptotic transcription factor CCAAT/enhancer-binding protein (C/EBP)-homologous protein/growth arrest and DNA da …
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.
RESULTS: We identified a de novo novel heterozygous predicted deleterious missense variant c.G2873A (p.R958H) in ABCC8 in a child with idiopathic PAH. We then evaluated all individuals in the original and a second cohort for rare or novel variants in ABCC8 and identified 1 …
RESULTS: We identified a de novo novel heterozygous predicted deleterious missense variant c.G2873A (p.R958H) in ABCC8 in a child wit …
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
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.
The multivariable model had an excellent discriminative ability {C-statistic 0.83 [95% confidence interval (CI) 0.78-0.88]}. Applying the existing PLN risk model to the complete cohort yielded a C-statistic of 0.68 (95% CI 0.61-0.75). ...
The multivariable model had an excellent discriminative ability {C-statistic 0.83 [95% confidence interval (CI) 0.78-0.88]}. Applying …
Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle.
van der Bruggen CE, Happé CM, Dorfmüller P, Trip P, Spruijt OA, Rol N, Hoevenaars FP, Houweling AC, Girerd B, Marcus JT, Mercier O, Humbert M, Handoko ML, van der Velden J, Vonk Noordegraaf A, Bogaard HJ, Goumans MJ, de Man FS. van der Bruggen CE, et al. Circulation. 2016 May 3;133(18):1747-60. doi: 10.1161/CIRCULATIONAHA.115.020696. Epub 2016 Mar 16. Circulation. 2016. PMID: 26984938