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6 results on '"Wunnemann, F"'

1. Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

Author

Wunnemann, F., Ta-Shma, Asaf, Preuss, C., Leclerc, Severine, Vliet, Patrick Piet van, Oneglia, Andrea, Loeys, B.L., Franco-Cereceda, Anders, Mital, S., Wunnemann, F., Ta-Shma, Asaf, Preuss, C., Leclerc, Severine, Vliet, Patrick Piet van, Oneglia, Andrea, Loeys, B.L., Franco-Cereceda, Anders, and Mital, S.

Abstract

Contains fulltext : 216665.pdf (publisher's version ) (Closed access)

Published
2020

2. Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

Author

Wunnemann, F., Ta-Shma, Asaf, Preuss, C., Leclerc, Severine, Vliet, Patrick Piet van, Oneglia, Andrea, Loeys, B.L., Franco-Cereceda, Anders, Mital, S., Wunnemann, F., Ta-Shma, Asaf, Preuss, C., Leclerc, Severine, Vliet, Patrick Piet van, Oneglia, Andrea, Loeys, B.L., Franco-Cereceda, Anders, and Mital, S.

Abstract

Contains fulltext : 216665.pdf (publisher's version ) (Closed access)

Published
2020

3. Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

Author

Wunnemann, F., Ta-Shma, Asaf, Preuss, C., Leclerc, Severine, Vliet, Patrick Piet van, Oneglia, Andrea, Loeys, B.L., Franco-Cereceda, Anders, Mital, S., Wunnemann, F., Ta-Shma, Asaf, Preuss, C., Leclerc, Severine, Vliet, Patrick Piet van, Oneglia, Andrea, Loeys, B.L., Franco-Cereceda, Anders, and Mital, S.

Abstract

Contains fulltext : 216665.pdf (publisher's version ) (Closed access)

Published
2020

4. Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Author

Gillis, E., Kumar, A.A., Luyckx, I., Preuss, C., Cannaerts, E., Beek, G. van de, Wieschendorf, B., Alaerts, M., Bolar, N., Vandeweyer, G., Meester, J. de, Wunnemann, F., Gould, R.A., Zhurayev, R., Zerbino, D., Mohamed, S.A., Mital, S., Mertens, L., Bjorck, H.M., Franco-Cereceda, A., McCallion, A.S., Laer, L. Van, Verhagen, J.M.A., Laar, I. van de, Wessels, M.W., Messas, E., Goudot, G., Nemcikova, M., Krebsova, A., Kempers, M.J.E., Salemink, S., Duijnhouwer, T., Jeunemaitre, X., Albuisson, J., Eriksson, P., Andelfinger, G., Dietz, H.C., Verstraeten, A., Loeys, B.L., Gillis, E., Kumar, A.A., Luyckx, I., Preuss, C., Cannaerts, E., Beek, G. van de, Wieschendorf, B., Alaerts, M., Bolar, N., Vandeweyer, G., Meester, J. de, Wunnemann, F., Gould, R.A., Zhurayev, R., Zerbino, D., Mohamed, S.A., Mital, S., Mertens, L., Bjorck, H.M., Franco-Cereceda, A., McCallion, A.S., Laer, L. Van, Verhagen, J.M.A., Laar, I. van de, Wessels, M.W., Messas, E., Goudot, G., Nemcikova, M., Krebsova, A., Kempers, M.J.E., Salemink, S., Duijnhouwer, T., Jeunemaitre, X., Albuisson, J., Eriksson, P., Andelfinger, G., Dietz, H.C., Verstraeten, A., and Loeys, B.L.

Abstract

Contains fulltext : 176973.pdf (publisher's version ) (Open Access), Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA). Historically, BAV-related TAA was considered as a hemodynamic consequence of the valve defect. Multiple lines of evidence currently suggest that genetic determinants contribute to the pathogenesis of both BAV and TAA in affected individuals. Despite high heritability, only very few genes have been linked to BAV or BAV/TAA, such as NOTCH1, SMAD6, and MAT2A. Moreover, they only explain a minority of patients. Other candidate genes have been suggested based on the presence of BAV in knockout mouse models (e.g., GATA5, NOS3) or in syndromic (e.g., TGFBR1/2, TGFB2/3) or non-syndromic (e.g., ACTA2) TAA forms. We hypothesized that rare genetic variants in these genes may be enriched in patients presenting with both BAV and TAA. We performed targeted resequencing of 22 candidate genes using Haloplex target enrichment in a strictly defined BAV/TAA cohort (n = 441; BAV in addition to an aortic root or ascendens diameter >/= 4.0 cm in adults, or a Z-score >/= 3 in children) and in a collection of healthy controls with normal echocardiographic evaluation (n = 183). After additional burden analysis against the Exome Aggregation Consortium database, the strongest candidate susceptibility gene was SMAD6 (p = 0.002), with 2.5% (n = 11) of BAV/TAA patients harboring causal variants, including two nonsense, one in-frame deletion and two frameshift mutations. All six missense mutations were located in the functionally important MH1 and MH2 domains. In conclusion, we report a significant contribution of SMAD6 mutations to the etiology of the BAV/TAA phenotype.

Published
2017

5. Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Author

Gillis, E., Kumar, A.A., Luyckx, I., Preuss, C., Cannaerts, E., Beek, G. van de, Wieschendorf, B., Alaerts, M., Bolar, N., Vandeweyer, G., Meester, J. de, Wunnemann, F., Gould, R.A., Zhurayev, R., Zerbino, D., Mohamed, S.A., Mital, S., Mertens, L., Bjorck, H.M., Franco-Cereceda, A., McCallion, A.S., Laer, L. Van, Verhagen, J.M.A., Laar, I. van de, Wessels, M.W., Messas, E., Goudot, G., Nemcikova, M., Krebsova, A., Kempers, M.J.E., Salemink, S., Duijnhouwer, T., Jeunemaitre, X., Albuisson, J., Eriksson, P., Andelfinger, G., Dietz, H.C., Verstraeten, A., Loeys, B.L., Gillis, E., Kumar, A.A., Luyckx, I., Preuss, C., Cannaerts, E., Beek, G. van de, Wieschendorf, B., Alaerts, M., Bolar, N., Vandeweyer, G., Meester, J. de, Wunnemann, F., Gould, R.A., Zhurayev, R., Zerbino, D., Mohamed, S.A., Mital, S., Mertens, L., Bjorck, H.M., Franco-Cereceda, A., McCallion, A.S., Laer, L. Van, Verhagen, J.M.A., Laar, I. van de, Wessels, M.W., Messas, E., Goudot, G., Nemcikova, M., Krebsova, A., Kempers, M.J.E., Salemink, S., Duijnhouwer, T., Jeunemaitre, X., Albuisson, J., Eriksson, P., Andelfinger, G., Dietz, H.C., Verstraeten, A., and Loeys, B.L.

Abstract

Contains fulltext : 176973.pdf (publisher's version ) (Open Access), Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA). Historically, BAV-related TAA was considered as a hemodynamic consequence of the valve defect. Multiple lines of evidence currently suggest that genetic determinants contribute to the pathogenesis of both BAV and TAA in affected individuals. Despite high heritability, only very few genes have been linked to BAV or BAV/TAA, such as NOTCH1, SMAD6, and MAT2A. Moreover, they only explain a minority of patients. Other candidate genes have been suggested based on the presence of BAV in knockout mouse models (e.g., GATA5, NOS3) or in syndromic (e.g., TGFBR1/2, TGFB2/3) or non-syndromic (e.g., ACTA2) TAA forms. We hypothesized that rare genetic variants in these genes may be enriched in patients presenting with both BAV and TAA. We performed targeted resequencing of 22 candidate genes using Haloplex target enrichment in a strictly defined BAV/TAA cohort (n = 441; BAV in addition to an aortic root or ascendens diameter >/= 4.0 cm in adults, or a Z-score >/= 3 in children) and in a collection of healthy controls with normal echocardiographic evaluation (n = 183). After additional burden analysis against the Exome Aggregation Consortium database, the strongest candidate susceptibility gene was SMAD6 (p = 0.002), with 2.5% (n = 11) of BAV/TAA patients harboring causal variants, including two nonsense, one in-frame deletion and two frameshift mutations. All six missense mutations were located in the functionally important MH1 and MH2 domains. In conclusion, we report a significant contribution of SMAD6 mutations to the etiology of the BAV/TAA phenotype.

Published
2017

6. Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Author

Gillis, E, Kumar, AA, Luyckx, I, Preuss, C, Cannaerts, E, van de Beek, G, Wieschendorf, B, Alaerts, M, Bolar, N, Vandeweyer, G, Meester, J, Wunnemann, F, Gould, RA, Zhurayev, R, Zerbino, D, Mohamed, SA, Mital, S, Mertens, L, Bjorck, HM, Franco-Cereceda, A, McCallion, AS, Van Laer, L, Verhagen, Judith, De Graaf - van de Laar, Ingrid, Wessels, Marja, Messas, E, Goudot, G, Nemcikova, M, Krebsova, A, Kempers, M, Salemink, S, Duijnhouwer, T, Jeunemaitre, X, Albuisson, J, Eriksson, P, Andelfinger, G, Dietz, HC, Verstraeten, A (Aline), Loeys, BL, Gillis, E, Kumar, AA, Luyckx, I, Preuss, C, Cannaerts, E, van de Beek, G, Wieschendorf, B, Alaerts, M, Bolar, N, Vandeweyer, G, Meester, J, Wunnemann, F, Gould, RA, Zhurayev, R, Zerbino, D, Mohamed, SA, Mital, S, Mertens, L, Bjorck, HM, Franco-Cereceda, A, McCallion, AS, Van Laer, L, Verhagen, Judith, De Graaf - van de Laar, Ingrid, Wessels, Marja, Messas, E, Goudot, G, Nemcikova, M, Krebsova, A, Kempers, M, Salemink, S, Duijnhouwer, T, Jeunemaitre, X, Albuisson, J, Eriksson, P, Andelfinger, G, Dietz, HC, Verstraeten, A (Aline), and Loeys, BL

Published
2017

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