Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hans-Jurgen J. Mager"'
Autor:
Hans-Jurgen J Mager, Sabrina Martin, Georgios Galaris, Geoffroy J P E Goujon, Ton J. Rabelink, Franck Lebrin, Kevin Montagne, Sander van den Driesche, Jérémy H. Thalgott, Christine L. Mummery
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8948, p 8948 (2021)
International Journal of Molecular Sciences, 22(16). MDPI
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8948, p 8948 (2021)
International Journal of Molecular Sciences, 22(16). MDPI
Hereditary Hemorrhagic Telangiectasia type 1 (HHT1) is an autosomal dominant inherited disease characterized by arteriovenous malformations and hemorrhage. HHT1 is caused by mutations in ENDOGLIN, which encodes an ancillary receptor for Transforming
Autor:
Anke M. Smits, Alwin de Jong, Margreet R. de Vries, Marie-José Goumans, Kondababu Kurakula, Kirsten Lodder, Paul H.A. Quax, Hans-Jurgen J. Mager, Karien C. Wiesmeijer, Calinda K. E. Dingenouts, Wineke Bakker
Publikováno v:
International Journal of Molecular Sciences, 22(4):2010, 1-19. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 22
Issue 4
International Journal of Molecular Sciences, 22(4). MDPI
Bakker, W, Dingenouts, C K E, Lodder, K, Wiesmeijer, K C, de Jong, A, Kurakula, K, Mager, H J J, Smits, A M, de Vries, M R, Quax, P H A & Goumans, M J T H 2021, ' Bmp receptor inhibition enhances tissue repair in endoglin heterozygous mice ', International Journal of Molecular Sciences, vol. 22, no. 4, 2010, pp. 1-19 . https://doi.org/10.3390/ijms22042010
International Journal of Molecular Sciences, Vol 22, Iss 2010, p 2010 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 4
International Journal of Molecular Sciences, 22(4). MDPI
Bakker, W, Dingenouts, C K E, Lodder, K, Wiesmeijer, K C, de Jong, A, Kurakula, K, Mager, H J J, Smits, A M, de Vries, M R, Quax, P H A & Goumans, M J T H 2021, ' Bmp receptor inhibition enhances tissue repair in endoglin heterozygous mice ', International Journal of Molecular Sciences, vol. 22, no. 4, 2010, pp. 1-19 . https://doi.org/10.3390/ijms22042010
International Journal of Molecular Sciences, Vol 22, Iss 2010, p 2010 (2021)
Hereditary hemorrhagic telangiectasia type 1 (HHT1) is a severe vascular disorder caused by mutations in the TGFβ/BMP co-receptor endoglin. Endoglin haploinsufficiency results in vascular malformations and impaired neoangiogenesis. Furthermore, HHT1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6553fd9c02efe074d4d70e8093091f4
https://hdl.handle.net/1887/3214289
https://hdl.handle.net/1887/3214289
Autor:
Frank Baas, Hans-Jurgen J Mager, Valeria V. Orlova, Christian Freund, Christine L. Mummery, Francijna E. van den Hil, Harald Mikkers, Peter de Knijff, Marga J. Bouma
Publikováno v:
Stem cell research, 46:101786. Elsevier
Stem Cell Research, Vol 46, Iss, Pp 101786-(2020)
Stem Cell Research, 46. ELSEVIER
Stem Cell Research, Vol 46, Iss, Pp 101786-(2020)
Stem Cell Research, 46. ELSEVIER
Fibroblasts from a patient carrying a heterozygous 18bp deletion in exon 8 of the ACVRL1 gene (c.1120del18) were reprogrammed using episomal vectors. The inframe deletion in ACVRL1 causes the loss of 6 amino acids of the protein, which is associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e435a81678357db176f45986a913c4c
https://pure.amc.nl/en/publications/generation-and-genetic-repair-of-2-ipsc-clones-from-a-patient-bearing-a-heterozygous-c1120del18-mutation-in-the-acvrl1-gene-leading-to-hereditary-hemorrhagic-telangiectasia-hht-type-2(a8b6fa6e-07a1-41fc-b061-9f21308a3d93).html
https://pure.amc.nl/en/publications/generation-and-genetic-repair-of-2-ipsc-clones-from-a-patient-bearing-a-heterozygous-c1120del18-mutation-in-the-acvrl1-gene-leading-to-hereditary-hemorrhagic-telangiectasia-hht-type-2(a8b6fa6e-07a1-41fc-b061-9f21308a3d93).html
Publikováno v:
The Annals of Thoracic Surgery. 90:638-640
Total hepatic venous drainage into the left atrium is an extremely uncommon abnormality. We present a patient in whom the hepatic veins drained into the left atrium in the absence of other intracardiac or extracardiac anomalies. Surgical correction o