Zobrazeno 1 - 10
of 3 081
pro vyhledávání: '"de Baere, P."'
Autor:
Fabiola Ceroni, Munevver B. Cicekdal, Richard Holt, Elena Sorokina, Nicolas Chassaing, Samuel Clokie, Thomas Naert, Lidiya V. Talbot, Sanaa Muheisen, Dorine A. Bax, Yesim Kesim, Emma C. Kivuva, Catherine Vincent-Delorme, Soeren S. Lienkamp, Julie Plaisancié, Elfride De Baere, Patrick Calvas, Kris Vleminckx, Elena V. Semina, Nicola K. Ragge
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contrib
Externí odkaz:
https://doaj.org/article/a6ddadf378cc4b2281c14bfc3acf06de
Autor:
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. W
Externí odkaz:
https://doaj.org/article/0c0b6eba7aa84c6fa61212f9ff5202a8
Autor:
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in
Externí odkaz:
https://doaj.org/article/d2e571d283e8449eb9ed832dcb478784
Autor:
Marine Boulanger, Jean-François Taillandier, Jérôme Henri, Mathias Devreese, Siegrid De Baere, Aude A. Ferran, Alexis Viel
Publikováno v:
Poultry Science, Vol 103, Iss 11, Pp 104200- (2024)
ABSTRACT: Sulfonamides (S) are old bacteriostatic antibiotics which are widely prescribed in combination with trimethoprim (TMP) for the treatment of various diseases in food-producing animals such as poultry. Nowadays, the 1:5 dose ratio of TMP/S us
Externí odkaz:
https://doaj.org/article/263c097c5d2e46ffb1f7e45ffffea1eb
Autor:
Eva D’haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martínez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfride De Baere
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-24 (2024)
Abstract Background Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal expression wit
Externí odkaz:
https://doaj.org/article/a3d8d2ce3b6a449b865a48720cdd33d6
Autor:
Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Erica Boonen, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, Emma Delanote, Elfride De Baere, Filip van Nieuwerburgh, Sarah De Keulenaer, Barbara Ferrari, Stefano Ferrari, Frauke Coppieters, Frans P. M. Cremers, Erwin van Wyk, Susanne Roosing, Erik de Vrieze, Peter A. C. ‘t Hoen
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understa
Externí odkaz:
https://doaj.org/article/597f13c9088a47f6afda9d373f062809
Autor:
Marjolein Carron, Attila Placido Sachslehner, Munevver Burcu Cicekdal, Inge Bruggeman, Suzan Demuynck, Bahar Golabi, Elfride De Baere, Wim Declercq, Erwin Tschachler, Kris Vleminckx, Leopold Eckhart
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract Cornified skin appendages, such as hair and nails, are major evolutionary innovations of terrestrial vertebrates. Human hair and nails consist largely of special intermediate filament proteins, known as hair keratins, which are expressed und
Externí odkaz:
https://doaj.org/article/a710d9a58fc84d2b8c16e5cff7cd038f
Autor:
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Cross-species genome comparisons have revealed a substantial number of ultraconserved non-coding elements (UCNEs). Several of these elements have proved to be essential tissue- and cell type-specific cis-regulators of developmental gene expr
Externí odkaz:
https://doaj.org/article/38cbf5e245e84d6bb6d38d770e602435
Autor:
Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
Abstract Background 5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a
Externí odkaz:
https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff
Autor:
Bart Neyns, Mark Middleton, Aurélien Marabelle, Ignacio Melero, Ke Liu, Nina Bhardwaj, Tanja D de Gruijl, Jason Chesney, Robert Coffin, Howard Kaufman, Diwakar Davar, Jason J Luke, Georgina V Long, Kevin J Harrington, Sherene Loi, Thierry de Baere, David J Pinato, Matthew Fury, Ciara M Kelly, Joshua D Brody, Robert H Andtbacka, Gregory Goldmacher, Anuradha D Khilnani, Rahul A Sheth, Stephen B Solomon, Philippe Szapary
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 12, Iss 4 (2024)
Background Intratumorally delivered immunotherapies have the potential to favorably alter the local tumor microenvironment and may stimulate systemic host immunity, offering an alternative or adjunct to other local and systemic treatments. Despite th
Externí odkaz:
https://doaj.org/article/c46bb380ab4f4bb8bdb94dd95f2f7c6b