Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Silke Peeters"'
Autor:
Irene Valdivia Callejon, Lucia Buccioli, Jarl Bastianen, Jolien Schippers, Aline Verstraeten, Ilse Luyckx, Silke Peeters, A. H. Jan Danser, Roland R. J. Van Kimmenade, Josephina Meester, Bart Loeys
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 5025 (2024)
Cardiovascular outcome in Marfan syndrome (MFS) patients most prominently depends on aortic aneurysm progression with subsequent aortic dissection. Angiotensin II receptor blockers (ARBs) prevent aneurysm formation in MFS mouse models. In patients, A
Externí odkaz:
https://doaj.org/article/c69fda5784754d0b944ca651d058b2cc
Autor:
Pauline De Kinderen, Laura Rabaut, Melanie H.A.M. Perik, Silke Peeters, Peter Ponsaerts, Bart Loeys, Geert Mortier, Josephina A.N. Meester, Aline Verstraeten
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103080- (2023)
Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. SEDC is clinically characterized by severe short stature
Externí odkaz:
https://doaj.org/article/3c12b5d9d8e346108dfa762b85796606
Publikováno v:
Stem Cell Research, Vol 68, Iss , Pp 103050- (2023)
Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic aneurysms in MFS patients are associated with high mortality rates. MFS is typically caused by pa
Externí odkaz:
https://doaj.org/article/92ae0623a4a844adbbb95f11d2a844fc
Autor:
Lotte J.F. Van Den Heuvel, Silke Peeters, Josephina A.N. Meester, Melanie Perik, Paul Coucke, Bart L. Loeys
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103032- (2023)
Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system; and is typically cause by pathogenic variants in the fibrillin-1 (FBN1) gene. We report a generated induced pluri
Externí odkaz:
https://doaj.org/article/c0781fcbd4ff47398f9eab7abdf2812b
Autor:
Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Loeys, Aline Verstraeten, Josephina A.N. Meester
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103024- (2023)
Hemizygous missense variants in the X-linked BGN gene, encoding the extracellular matrix protein biglycan, cause spondyloepimetaphyseal dysplasia (SEMD, biglycan type), which is clinically characterized by short stature, brachydactyly and osteoarthri
Externí odkaz:
https://doaj.org/article/6f59af936632411583f18195dba5b52c
Publikováno v:
Stem cell research
Stem Cell Research, 68
Stem Cell Research, 68
Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic aneurysms in MFS patients are associated with high mortality rates. MFS is typically caused by pa
Autor:
Abdulrahman Almesned, Dorien Schepers, Mehran Beiraghi Toosi, Zuhair N. Al-Hassnan, Jill A. Rosenfeld, Erin M. Miller, Hassan Mottaghi Moghaddam Shahri, Maaike Alaerts, Melanie Perik, Desiderio Rodrigues, Aline Verstraeten, Reza Maroofian, Silke Peeters, Cédric H. G. Neutel, Ilse Luyckx, Nicole Revencu, Jenny C. Taylor, Jarl Bastianen, Isabel Pintelon, Henry Houlden, Matteo P. Ferla, Erik Fransen, Kayal Vijayakumar, Lut Van Laer, Anthony R. Dallosso, Mandy Vermont, Isabelle Maystadt, Lotte Van Den Heuvel, Thierry Sluysmans, David Murphy, K. Nicole Weaver, Paria Najarzadeh Torbati, Jotte Rodrigues Bento, Amber Begtrup, Maggie Williams, Ilse Van Gucht, Maaike Bastiaansen, Ashish Chikermane, Gangadhara Bharmappanavara, Alistair T. Pagnamenta, Bart Loeys, Joe Davis Velchev, Julie Evans, Josephina A.N. Meester, Narges Hashemi, Julie Vogt, Pieter-Jan Guns
Publikováno v:
The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics
Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-beta protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowl
Autor:
Lotte Van Den Heuvel, Josephina Meester, Silke Peeters, Romain Alderweireldt, Aline Verstraeten, Paul Coucke, Bart Loeys
Publikováno v:
AORTA.
Autor:
Silke Peeters, Pauline De Kinderen, Josephina A. N. Meester, Aline Verstraeten, Bart L. Loeys
Publikováno v:
Human mutation
Different pathogenic variants in the fibrillin‐1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility and muscle hypoplasia, ac
Autor:
Pauline De Kinderen, Josephina Meester, Bart Loeys, Silke Peeters, Elvire Gouze, Steven Woods, Geert Mortier, Aline Verstraeten
Publikováno v:
Journal of bone and mineral research
The induced pluripotent stem cell (iPSC) technology allows pathomechanistic and therapeutic investigation of human heritable disorders affecting tissue types whose collection from patients is difficult or even impossible. Amongst them are cartilage d