We would like to thank Dr. Paul J. Coucke, Dr. Julie De Backer and Prof. Anne M. De Paepe for critical reading of the manuscript.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This study was funded by Jagiellonian University Medical College (Grant K/ZDS/00580).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
2. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;7:476–85.10.1136/jmg.2009.072785Search in Google Scholar
4. Bateman JF, Freddi S, Lamandé SR, Byers P, Nasioulas S, Douglas J, et al. Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. Hum Mutat 1999;13:311–7.10.1002/(SICI)1098-1004(1999)13:4<311::AID-HUMU8>3.0.CO;2-PSearch in Google Scholar
5. Eldadah ZA, Brenn T, Furthmayr H, Dietz HC. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. J Clin Invest 1995;2:874–80.10.1172/JCI117737Search in Google Scholar
6. Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, et al. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet 2002;2:223–7.10.1086/341581Search in Google Scholar
7. Reinhardt DP, Ono RN, Notbohm H, Müller PK, Bächinger HP, Sakai LY. Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. J Biol Chem 2000;16:12339–45.10.1074/jbc.275.16.12339Search in Google Scholar
8. Charbonneau NL, Carlson EJ, Tufa S, Sengle G, Manalo EC, Carlberg VM, et al. In vivo studies of mutant fibrillin-1 microfibrils. J Biol Chem 2010;32:24943–55.10.1074/jbc.M110.130021Search in Google Scholar
9. Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 2004;2:172–81.10.1172/JCI200420641Search in Google Scholar
10. Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 2003;4:2750–7.10.1074/jbc.M209256200Search in Google Scholar
11. Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, et al. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004;11:1586–92.10.1172/JCI200422715Search in Google Scholar
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