Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Paul J Coucke"'
Autor:
Mohammad Al-Haggar, Ashraf Bakr, Yahya Wahba, Paul J Coucke, Fatma El-Hussini, Mona Hafez, Riham Eid, Abdel-Rahman Eid, Amr Sarhan, Ali Shaltout, Ayman Hammad, Sohier Yahia, Ahmad El-Rifaie, Dina Abdel-Hadi
Publikováno v:
Saudi Journal of Kidney Diseases and Transplantation, Vol 28, Iss 1, Pp 141-148 (2017)
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal
Externí odkaz:
https://doaj.org/article/1243858dedaa4cd682a50f0b8764c30f
Autor:
Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 9, Pp 9998-10007 (2024)
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling. In this report, we present two families with PXE in which paternal germline mosaicism for an
Externí odkaz:
https://doaj.org/article/479cde1bfdb14a16b0132e744b3865e7
Autor:
Suzanne Vanhauwaert, Gert Van Peer, Ali Rihani, Els Janssens, Pieter Rondou, Steve Lefever, Anne De Paepe, Paul J Coucke, Frank Speleman, Jo Vandesompele, Andy Willaert
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e109091 (2014)
The selection and validation of stably expressed reference genes is a critical issue for proper RT-qPCR data normalization. In zebrafish expression studies, many commonly used reference genes are not generally applicable given their variability in ex
Externí odkaz:
https://doaj.org/article/a6382c55a7bf4b94ac25bc9646255510
Autor:
Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, for UD-PrOZA
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In this study we report th
Externí odkaz:
https://doaj.org/article/132a277748754b7f9f15a3480f1078a1
Autor:
Francesca Tonelli, Laura Leoni, Valentina Daponte, Roberta Gioia, Silvia Cotti, Imke A. K. Fiedler, Daria Larianova, Andy Willaert, Paul J. Coucke, Simona Villani, Björn Busse, Roberta Besio, Antonio Rossi, P. Eckhard Witten, Antonella Forlino
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionTrimeric intracellular potassium channels TRIC-A and -B are endoplasmic reticulum (ER) integral membrane proteins, involved in the regulation of calcium release mediated by ryanodine (RyRs) and inositol 1,4,5-trisphosphate (IP3Rs) recepto
Externí odkaz:
https://doaj.org/article/33c8bfe813a142779f26e393e0769157
Autor:
Sarah Delbaere, Adelbert De Clercq, Shuji Mizumoto, Fredrik Noborn, Jan Willem Bek, Lien Alluyn, Charlotte Gistelinck, Delfien Syx, Phil L. Salmon, Paul J. Coucke, Göran Larson, Shuhei Yamada, Andy Willaert, Fransiska Malfait
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Proteoglycans are structurally and functionally diverse biomacromolecules found abundantly on cell membranes and in the extracellular matrix. They consist of a core protein linked to glycosaminoglycan chains via a tetrasaccharide linkage region. Here
Externí odkaz:
https://doaj.org/article/9ae0749259af4444b51e1cf46479dc64
Autor:
Tamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Delfien Syx, Sofie Symoens, Yannick Gansemans, Filip Van Nieuwerburgh, Sujatha Jagadeesh, Jayarekha Raja, Fransiska Malfait, Paul J. Coucke, Adelbert De Clercq, Andy Willaert
Publikováno v:
Human Genetics. 142:457-476
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab667fa424d568fc89cc295559e8e95d
https://doi.org/10.1007/s00439-022-02518-w
https://doi.org/10.1007/s00439-022-02518-w
Autor:
Matthias Van Gils, Justin Depauw, Paul J. Coucke, Shari Aerts, Shana Verschuere, Lukas Nollet, Olivier M. Vanakker
Publikováno v:
Journal of Clinical Medicine
Volume 12
Issue 5
Pages: 1893
JOURNAL OF CLINICAL MEDICINE
Volume 12
Issue 5
Pages: 1893
JOURNAL OF CLINICAL MEDICINE
Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic ABCC6 mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of ino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70ae0c927c89c0475557b2021b85208
Autor:
Ilse Meerschaut, Wouter Steyaert, Thierry Bové, Katrien François, Thomas Martens, Katya De Groote, Hans De Wilde, Laura Muiño Mosquera, Joseph Panzer, Kristof Vandekerckhove, Lara Moons, Petra Vermassen, Sofie Symoens, Paul J. Coucke, Daniël De Wolf, Bert Callewaert
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1214
GENES
Genes, 13, 7
Genes, 13
GENES
Genes, 13, 7
Genes, 13
Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is complex, and the underlying pathogenic mechanisms appear intricate and are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e22cb46d336a2f2fa3fc18e0d54f3fb5
https://pubmed.ncbi.nlm.nih.gov/35885997
https://pubmed.ncbi.nlm.nih.gov/35885997
Publikováno v:
The FASEB Journal. 36
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4f767e93ee067577340be9f614641a0
https://doi.org/10.1096/fasebj.2022.36.s1.r4783
https://doi.org/10.1096/fasebj.2022.36.s1.r4783