Zobrazeno 1 - 10
of 430
pro vyhledávání: '"Joris A Veltman"'
Autor:
Birgit Stallmeyer, Clara Bühlmann, Rytis Stakaitis, Ann-Kristin Dicke, Farah Ghieh, Luisa Meier, Ansgar Zoch, David MacKenzie MacLeod, Johanna Steingröver, Özlem Okutman, Daniela Fietz, Adrian Pilatz, Antoni Riera-Escamilla, Miguel J. Xavier, Christian Ruckert, Sara Di Persio, Nina Neuhaus, Ali Sami Gurbuz, Ahmet Şalvarci, Nicolas Le May, Kevin McEleny, Corinna Friedrich, Godfried van der Heijden, Margot J. Wyrwoll, Sabine Kliesch, Joris A. Veltman, Csilla Krausz, Stéphane Viville, Donald F. Conrad, Dónal O’Carroll, Frank Tüttelmann
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different p
Externí odkaz:
https://doaj.org/article/f298226160c54693a03e5498d577cfea
Autor:
Ezgi B. Ulas, BSc, Sayed M.S. Hashemi, MD, Ilias Houda, MD, Adem Kaynak, MSc, Joris D. Veltman, MD, PhD, Marieke F. Fransen, PhD, Teodora Radonic, MD, PhD, Idris Bahce, MD, PhD
Publikováno v:
JTO Clinical and Research Reports, Vol 4, Iss 9, Pp 100532- (2023)
Introduction: In advanced-stage NSCLC, tumor proportion score (TPS) is typically used to predict the efficacy of immune checkpoint inhibitors (ICIs). Nevertheless, in other cancer types, the combined positive score (CPS), which covers programmed deat
Externí odkaz:
https://doaj.org/article/e19f82a0ac474b54adcefd75bbe9d1ac
Autor:
Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, João Gonçalves, Christina A. Gurnett, Niels Jørgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert I. McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay I. Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O’Bryan, Peter N. Schlegel, Frank Tüttelmann, Joris A. Veltman, Kristian Almstrup, Kenneth I. Aston, Donald F. Conrad
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
The GEMINI consortium sequenced 1,000 cases of idiopathic male infertility and identified a plausible Mendelian cause in 20% of cases. The infertility genes can be grouped by expression pattern, facilitating their interpretation and follow-up.
Externí odkaz:
https://doaj.org/article/d33757f275f346459883626f17daf68f
Autor:
Sander Bach, Birgit M.M. Wever, Mark A. van de Wiel, Joris D. Veltman, Sayed M.S. Hashemi, Geert Kazemier, Idris Bahce, Renske D.M. Steenbergen
Publikováno v:
Epigenetics, Vol 17, Iss 10, Pp 1057-1069 (2022)
High levels of methylated DNA in urine represent an emerging biomarker for non-small cell lung cancer (NSCLC) detection and are the subject of ongoing research. This study aimed to investigate the circadian variation of urinary cell-free DNA (cfDNA)
Externí odkaz:
https://doaj.org/article/e7ac72917cc64fc09d286d4eae550d70
Autor:
Brendan J. Houston, Manon S. Oud, Daniel M. Aguirre, D. Jo Merriner, Anne E. O’Connor, Ozlem Okutman, Stéphane Viville, Richard Burke, Joris A. Veltman, Moira K. O’Bryan
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 12, Pp 4449-4457 (2020)
Externí odkaz:
https://doaj.org/article/a7a59dd16d164fee95bf95fa6b6d41d2
Autor:
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single ge
Externí odkaz:
https://doaj.org/article/1fc9affd647845a3af9208be55433db4
Autor:
Zulfan Zazuli, Renate Kos, Joris D. Veltman, Wilma Uyterlinde, Cristina Longo, Paul Baas, Rosalinde Masereeuw, Susanne J. H. Vijverberg, Anke-Hilse Maitland-van der Zee
Publikováno v:
Frontiers in Pharmacology, Vol 11 (2020)
AimAntineoplastic effect of cisplatin, the first line treatment in non-small cell lung cancer (NSCLC), is hindered by its nephrotoxicity and myelotoxicity. Both low-dose and high-dose regimens are used in the management of NSCLC. The aim of this stud
Externí odkaz:
https://doaj.org/article/c730d5154a3f4bd197c342551827a6bb
Autor:
Gunadi, Alvin Santoso Kalim, Nova Yuli Prasetyo Budi, Hamzah Muhammad Hafiq, Annisa Maharani, Maharani Febrianti, Fiko Ryantono, Dicky Yulianda, Kristy Iskandar, Joris A. Veltman
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract. We wished to inve
Externí odkaz:
https://doaj.org/article/424a0dbec96f4644a66231a01f3205b4
Autor:
Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio
Externí odkaz:
https://doaj.org/article/5e2c03b6081043e5add48aba3812d059
Autor:
Mattias Höglund, Ad Geurts van Kessel, Joris A. Veltman, Ludmila Gorunova, Tord Jonson, Eric F. P. M. Schoenmakers, Markus Heidenblad
Supplementary Table 2 from Genome-Wide Array-Based Comparative Genomic Hybridization Reveals Multiple Amplification Targets and Novel Homozygous Deletions in Pancreatic Carcinoma Cell Lines
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1385009726f79a708a4159b498e768e8
https://doi.org/10.1158/0008-5472.22363988
https://doi.org/10.1158/0008-5472.22363988
