Zobrazeno 1 - 10
of 189
pro vyhledávání: '"Fransiska, Malfait"'
Autor:
Mahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, Tim Van Damme, Olivier Kaye, Delfien Syx, Fransiska Malfait, Göran Larson
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 462-467 (2022)
Abstract The spondylodysplastic type of Ehlers–Danlos syndrome (spEDS) is caused by genetic defects in the B4GALT7 or B3GALT6 genes both deranging the biosynthesis of the glycosaminoglycan linkage region of chondroitin/dermatan sulfate and heparan
Externí odkaz:
https://doaj.org/article/73c003f96195432e949d56ac428e9ab7
Autor:
Robin Vroman, Rahel S. Hunter, Matthew J. Wood, Olivia C. Davis, Zoë Malfait, Dale S. George, Dongjun Ren, Diana Tavares-Ferreira, Theodore J. Price, Richard J. Miller, Anne-Marie Malfait, Fransiska Malfait, Rachel E. Miller, Delfien Syx
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
The extracellular matrix (ECM) is a dynamic structure of molecules that can be divided into six different categories and are collectively called the matrisome. The ECM plays pivotal roles in physiological processes in many tissues, including the nerv
Externí odkaz:
https://doaj.org/article/87f54fe5bb164f508a368543eff00691
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/526d1e17ba0f413db8952591ddf4afd9
Autor:
Stijn De Baets, Marieke De Temmerman, Patrick Calders, Fransiska Malfait, Geert Van Hove, Guy Vanderstraeten, Inge De Wandele, Dominique Van de Velde
Publikováno v:
Frontiers in Rehabilitation Sciences, Vol 3 (2022)
BackgroundPeople with Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders are hampered in their social participation, especially in the social relationships they have.ObjectiveThe aim of this study is to research the impact of hypermobile Eh
Externí odkaz:
https://doaj.org/article/1f3366b93b0f48f9927f81fed91bb351
Autor:
Stijn De Baets, Ellen Cruyt, Patrick Calders, Inge Dewandele, Fransiska Malfait, Guy Vanderstraeten, Geert Van Hove, Dominique van De Velde
Publikováno v:
PLoS ONE, Vol 17, Iss 6 (2022)
Ehlers-Danlos syndrome and hypermobility spectrum disorder affect daily life. There is a lack of research that investigates how the disease affects aspects of participation. This study investigates whether there is a difference in the level of partic
Externí odkaz:
https://doaj.org/article/1ca50618dbf240f7827366ca76c6a2f0
Publikováno v:
Matrix Biology Plus, Vol 12, Iss , Pp 100090- (2021)
Vascular Ehlers Danlos (vEDS) syndrome is a severe multi-systemic connective tissue disorder characterized by risk of dissection and rupture of the arteries, gastro-intestinal tract and gravid uterus. vEDS is caused by mutations in COL3A1, that encod
Externí odkaz:
https://doaj.org/article/452f1caa58e84d28885d5a7c4703abde
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissues disorders mainly characterized by skin hyperextensibility, joint hypermobility and generalized tissue fragility. Currently, 14 EDS subtypes each with particular phenotypi
Externí odkaz:
https://doaj.org/article/2066e2f0dd1e49c394f7cb5ceb23d713
Autor:
Thao T. Tran, Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Sofie Symoens, Paul Coucke, Peter Witters, Elena Levtchenko, Hamideh Bagherian, Deborah A. Nickerson, Michael J. Bamshad, Jessica X. Chong, Peter H. Byers
Publikováno v:
HGG Advances, Vol 2, Iss 4, Pp 100051- (2021)
Summary: The bone disorder osteogenesis imperfecta (OI) is genetically heterogeneous. Most affected individuals have an autosomal dominant disorder caused by heterozygous variants in either of the type I collagen genes (COL1A1 or COL1A2). To date, tw
Externí odkaz:
https://doaj.org/article/48903d8149a8425083091af497e532e3
Autor:
Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Proteoglycans are large and structurally complex macromolecules which can be found in abundancy in the extracellular matrix and on the surface of all animal cells. Mutations in the genes encoding the enzymes responsible for the fo
Externí odkaz:
https://doaj.org/article/42f243fd726149feb647940004eb423a
Publikováno v:
JBMR Plus, Vol 5, Iss 3, Pp n/a-n/a (2021)
ABSTRACT TANGO1 (transport and Golgi organization‐1 homolog) encodes a transmembrane protein, which is located at endoplasmic reticulum (ER) exit sites where it binds bulky cargo, such as collagens, in the lumen and recruits membranes from the ER
Externí odkaz:
https://doaj.org/article/65da6c4c1b9c47b1a86f37c3e36b6389