Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Peter A.C 't Hoen"'
Autor:
Renee Salz, Emil E. Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Tabea V. Riepe, Tsung-han Hsieh, Musa Mhlanga, Mihai G. Netea, Pieter-Jan Volders, Alexander Hoischen, Peter A.C. ’t Hoen
Publikováno v:
iScience, Vol 27, Iss 8, Pp 110471- (2024)
Summary: We performed long-read transcriptome and proteome profiling of pathogen-stimulated peripheral blood mononuclear cells (PBMCs) from healthy donors to discover new transcript and protein isoforms expressed during immune responses to diverse pa
Externí odkaz:
https://doaj.org/article/10beff8397b24bafb6bd4dd1d30ec867
Autor:
Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-10 (2023)
Abstract Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only expressed under certain conditions. These transcripts are often lacking from reference trans
Externí odkaz:
https://doaj.org/article/d83c41876dc44e49a10f480b2d46d03a
Autor:
Najoua El Boujnouni, M. Leontien van der Bent, Marieke Willemse, Peter A.C. ’t Hoen, Roland Brock, Derick G. Wansink
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 622-636 (2023)
Antisense oligonucleotide (ASO) therapies for myotonic dystrophy type 1 (DM1) are based on elimination of transcripts containing an expanded repeat or inhibition of sequestration of RNA-binding proteins. This activity is achievable by both degradatio
Externí odkaz:
https://doaj.org/article/97e890b2b5784324b32954702b47d821
Autor:
Daniel T. Rademaker, Joshua J. Koopmans, Gwendolyn M.S.M. Thyen, Aigars Piruska, Wilhelm T.S. Huck, Gert Vriend, Peter A.C. ‘t Hoen, Taco W.A. Kooij, Martijn A. Huynen, Nicholas I. Proellochs
Publikováno v:
iScience, Vol 26, Iss 12, Pp 108542- (2023)
Summary: Several hematologic diseases, including malaria, diabetes, and sickle cell anemia, result in a reduced red blood cell deformability. This deformability can be measured using a microfluidic device with channels of varying width. Nevertheless,
Externí odkaz:
https://doaj.org/article/7540ac269b4b44e495d44a52dc8cf53f
Autor:
Anna Niehues, Daniele Bizzarri, Marcel J.T. Reinders, P. Eline Slagboom, Alain J. van Gool, Erik B. van den Akker, BBMRI-NL BIOS consortium, BBMRI-NL Metabolomics consortium, Peter A.C. ’t Hoen
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-13 (2022)
Abstract Population-scale expression profiling studies can provide valuable insights into biological and disease-underlying mechanisms. The availability of phenotypic traits is essential for studying clinical effects. Therefore, missing, incomplete,
Externí odkaz:
https://doaj.org/article/14ad6e2a8def459a876e10aa1ada8f21
Autor:
Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new
Externí odkaz:
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52
Autor:
Tooba Abbassi-Daloii, Salma el Abdellaoui, Hermien E. Kan, Erik van den Akker, Peter A.C. ’t Hoen, Vered Raz, Lenard M. Voortman
Publikováno v:
STAR Protocols, Vol 4, Iss 1, Pp 102075- (2023)
Summary: Skeletal muscles are composed of different myofiber types characterized by the expression of myosin heavy chain isoforms, which can be affected by physical activity, aging, and pathological conditions. Here, we present a step-by-step high-th
Externí odkaz:
https://doaj.org/article/f82b00c9fe174a4f9ce85f611d9cf880
Autor:
Philip van Damme, Pablo Alarcón Moreno, César H. Bernabé, Alberto Cámara Ballesteros, Clémence M. A. Le Cornec, Bruna Dos Santos Vieira, K. Joeri van der Velde, Shuxin Zhang, Claudio Carta, Ronald Cornet, Peter A.C. ’t Hoen, Annika Jacobsen, Morris A. Swertz, Marco Roos, Nirupama Benis
Publikováno v:
Data Science Journal, Vol 22, Pp 12-12 (2023)
Objective: This paper reports on the development of a dynamic data management planning questionnaire to guide data stewards of the European Reference Network (ERN) rare disease patient registries to make their data findable, accessible, interoperable
Externí odkaz:
https://doaj.org/article/bf3dba87325440609b35dcdb605bb5ef
Autor:
Tareq B. Malas, Wouter N. Leonhard, Hester Bange, Zoraide Granchi, Kristina M. Hettne, Gerard J.P. Van Westen, Leo S. Price, Peter A.C. 't Hoen, Dorien J.M. Peters
Publikováno v:
EBioMedicine, Vol 51, Iss , Pp - (2020)
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common causes of end-stage renal failure, caused by mutations in PKD1 or PKD2 genes. Tolvaptan, the only drug approved for ADPKD treatment, results in serious side-ef
Externí odkaz:
https://doaj.org/article/233fc8102f9c4f019ed65089bafe6307
Autor:
Casper de Visser, Lennart F. Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K. Joeri van der Velde, Péter Horvatovich, Alain J. van Gool, Morris A Swertz, Peter A.C. 't Hoen, Anna Niehues
Research data is accumulating rapidly, and with it the challenge of irreproducible science. As a consequence, implementation of high quality management of scientific data has become a global priority. The FAIR (Findable, Accesible, Interoperable and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2ad40cc4832ab88c242ad93763744c