Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Robin van der Lee"'
Autor:
Matheus F. P. T. van Rens, Kevin Hugill, Robin van der Lee, Airene L. V. Francia, Fredericus H. J. van Loon, Mohammad A. A. Bayoumi
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
ObjectiveThis study aims to assess the comparative effectiveness of a conventional splitting needle or a peelable cannula vs. the modified Seldinger technique (MST) by utilizing a dedicated micro-insertion kit across various clinically significant me
Externí odkaz:
https://doaj.org/article/ba77dcdafa8142b29d8a744ebe63be11
Autor:
Emily J. J. Horn-Oudshoorn, Ronny Knol, Suzan C. M. Cochius-den Otter, Arjan B. te Pas, Stuart B. Hooper, Calum T. Roberts, Neysan Rafat, Thomas Schaible, Willem P. de Boode, Robin van der Lee, Anne Debeer, Florian Kipfmueller, Charles C. Roehr, Irwin K. M. Reiss, Philip L. J. DeKoninck
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundInfants with a congenital diaphragmatic hernia (CDH) and expected mild pulmonary hypoplasia have an estimated survival rate of 90%. Current guidelines for delivery room management do not consider the individual patient's disease severity, b
Externí odkaz:
https://doaj.org/article/ff9897b6e87c48cdb10f6069cb47e85c
Autor:
Kathryn Westendorf, Stefanie Žentelis, Lingshu Wang, Denisa Foster, Peter Vaillancourt, Matthew Wiggin, Erica Lovett, Robin van der Lee, Jörg Hendle, Anna Pustilnik, J. Michael Sauder, Lucas Kraft, Yuri Hwang, Robert W. Siegel, Jinbiao Chen, Beverly A. Heinz, Richard E. Higgs, Nicole L. Kallewaard, Kevin Jepson, Rodrigo Goya, Maia A. Smith, David W. Collins, Davide Pellacani, Ping Xiang, Valentine de Puyraimond, Marketa Ricicova, Lindsay Devorkin, Caitlin Pritchard, Aoise O’Neill, Kush Dalal, Pankaj Panwar, Harveer Dhupar, Fabian A. Garces, Courtney A. Cohen, John M. Dye, Kathleen E. Huie, Catherine V. Badger, Darwyn Kobasa, Jonathan Audet, Joshua J. Freitas, Saleema Hassanali, Ina Hughes, Luis Munoz, Holly C. Palma, Bharathi Ramamurthy, Robert W. Cross, Thomas W. Geisbert, Vineet Menachery, Kumari Lokugamage, Viktoriya Borisevich, Iliana Lanz, Lisa Anderson, Payal Sipahimalani, Kizzmekia S. Corbett, Eun Sung Yang, Yi Zhang, Wei Shi, Tongqing Zhou, Misook Choe, John Misasi, Peter D. Kwong, Nancy J. Sullivan, Barney S. Graham, Tara L. Fernandez, Carl L. Hansen, Ester Falconer, John R. Mascola, Bryan E. Jones, Bryan C. Barnhart
Publikováno v:
Cell Reports, Vol 39, Iss 7, Pp 110812- (2022)
Summary: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-neutralizing monoclonal antibodies (mAbs) can reduce the risk of hospitalization from coronavirus disease 2019 (COVID-19) when administered early. However, SARS-CoV-2 variants of c
Externí odkaz:
https://doaj.org/article/daeff3ff2f814504a3643f35bb419fcf
Autor:
Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100761- (2021)
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childh
Externí odkaz:
https://doaj.org/article/0324e8d839f242b9b20895a59c5f16a5
Autor:
Selma L. van Esveld, Şirin Cansız-Arda, Fenna Hensen, Robin van der Lee, Martijn A. Huynen, Johannes N. Spelbrink
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 7 (2019)
In order to synthesize the 13 oxidative phosphorylation proteins encoded by mammalian mtDNA, a large assortment of nuclear encoded proteins is required. These include mitoribosomal proteins and various RNA processing, modification and degradation enz
Externí odkaz:
https://doaj.org/article/95708e93051540728c82c291eae1f8d0
Autor:
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliar
Externí odkaz:
https://doaj.org/article/206fb09f592a41a7979de76d71996765
Autor:
Robin van der Lee, Benjamin Lang, Kai Kruse, Jörg Gsponer, Natalia Sánchez de Groot, Martijn A. Huynen, Andreas Matouschek, Monika Fuxreiter, M. Madan Babu
Publikováno v:
Cell Reports, Vol 8, Iss 6, Pp 1832-1844 (2014)
Precise control of protein turnover is essential for cellular homeostasis. The ubiquitin-proteasome system is well established as a major regulator of protein degradation, but an understanding of how inherent structural features influence the lifetim
Externí odkaz:
https://doaj.org/article/90823de7690e4e718d79b335dde386a6
Autor:
Robin van der Lee, Qian Feng, Martijn A Langereis, Rob Ter Horst, Radek Szklarczyk, Mihai G Netea, Arno C Andeweg, Frank J M van Kuppeveld, Martijn A Huynen
Publikováno v:
PLoS Computational Biology, Vol 11, Iss 10, p e1004553 (2015)
The RIG-I-like receptor (RLR) pathway is essential for detecting cytosolic viral RNA to trigger the production of type I interferons (IFNα/β) that initiate an innate antiviral response. Through systematic assessment of a wide variety of genomics da
Externí odkaz:
https://doaj.org/article/83c13d2a5fe64fe289f11af4c47b32e9
Autor:
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P. Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A. Sharma, Joshua Dalmann, Robin van der Lee, Géraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip A. Richmond, Jessica J. Lee, Allison Matthews, Michael Seear, Alexandra K. Turvey, Rachael L. Philips, Terri F. Brown-Whitehorn, Christopher J. Gray, Kosuke Izumi, James R. Treat, Kathleen H. Wood, Justin Lack, Asya Khleborodova, Julie E. Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I. van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui Wah Lee, Marco Hok Kung Ho, Brian Hon Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique Bullens, Kate Sauer, Tania Claeys, Catherine M. Biggs, Emma C. Morris, Sergio D. Rosenzweig, John J. O’Shea, Wyeth W. Wasserman, H. Melanie Bedford, Clara D.M. van Karnebeek, Paolo Palma, Siobhan O. Burns, Isabelle Meyts, Jean-Laurent Casanova, Jonathan J. Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L. McKinnon, Yu Lung Lau, Vivien Béziat, Stuart E. Turvey
Publikováno v:
Journal of Experimental Medicine, 220
Journal of Experimental Medicine, 220, 5
Journal of Experimental Medicine, 220, 5
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound
Autor:
Joseph J. Shen, Johannes Koch, Lonneke de Boer, Saskia B. Wortmann, Leo A. J. Kluijtmans, Christin D. Collins, Marleen C. D. G. Huigen, Clara D.M. van Karnebeek, Madhuri R Hegde, Robin van der Lee, Stephanie Ross
Publikováno v:
Genetics in Medicine, 23, 3, pp. 581-585
Genetics in Medicine, 23, 581-585
Genetics in medicine, 23(3), 581-585. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 581-585
Genetics in medicine, 23(3), 581-585. Lippincott Williams and Wilkins
Contains fulltext : 231549.pdf (Publisher’s version ) (Closed access) PURPOSE: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants provide