Zobrazeno 1 - 10
of 1 063
pro vyhledávání: '"Colin A Johnson"'
Autor:
Katarzyna Szymanska, Karsten Boldt, Clare V Logan, Matthew Adams, Philip A Robinson, Marius Ueffing, Elton Zeqiraj, Gabrielle Wheway, Colin A Johnson
Publikováno v:
eLife, Vol 11 (2022)
Primary ciliary defects cause a group of developmental conditions known as ciliopathies. Here, we provide mechanistic insight into ciliary ubiquitin processing in cells and for mouse model lacking the ciliary protein Mks1. In vivo loss of Mks1 sensit
Externí odkaz:
https://doaj.org/article/f0a156367f2e4541b9bddcf0e0c9f9f4
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:
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson
Publikováno v:
eLife, Vol 4 (2015)
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to i
Externí odkaz:
https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9
Autor:
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton J. R. Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F. Inglehearn, Martin McKibbin, Reinhard Lührmann, David H. Steel, David J. Elliott, Lyle Armstrong, Henning Urlaub, Robin R. Ali, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Sina Mozaffari-Jovin, Majlinda Lako
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used pat
Externí odkaz:
https://doaj.org/article/543dcbabd0154436a3a7c83f1dd4c6bd
Autor:
Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104281 (2014)
Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative ge
Externí odkaz:
https://doaj.org/article/90cf5e0403ae4c868eed24f25f38499b
Autor:
Jennifer L Pluznick, Diego J Rodriguez-Gil, Michael Hull, Kavita Mistry, Vincent Gattone, Colin A Johnson, Scott Weatherbee, Charles A Greer, Michael J Caplan
Publikováno v:
PLoS ONE, Vol 6, Iss 5, p e19694 (2011)
It was reported that some proteins known to cause renal cystic disease (NPHP6; BBS1, and BBS4) also localize to the olfactory epithelium (OE), and that mutations in these proteins can cause anosmia in addition to renal cystic disease. We demonstrate
Externí odkaz:
https://doaj.org/article/7a7b715d66544971aca4e6d76d032477
Autor:
Tara Gomes, Mina Tadrous, Sophie A Kitchen, Frank Crichlow, Tonya J Campbell, Cynthia Damba, Colin H Johnson, Ashley Smoke
Publikováno v:
BMJ Public Health, Vol 2, Iss 1 (2024)
Introduction The North American toxic drug crisis has been framed as an epidemic primarily affecting white people. However, evidence suggests that deaths are rising among racialised people. Accordingly, we sought to describe and compare characteristi
Externí odkaz:
https://doaj.org/article/0358575f44fa4385b8facc3b5181d1bf
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-16 (2022)
Abstract Skeletal muscle satellite cells cultured on soft surfaces (12 kPa) show improved differentiation than cells cultured on stiff surfaces (approximately 100 kPa). To better understand the reasons for this, we performed an RNA-Seq analysis for a
Externí odkaz:
https://doaj.org/article/e8b6e21f1c0e4785bf3fe7dd5051a8ad
Autor:
Alistair A. Sellar, Colin G. Jones, Jane P. Mulcahy, Yongming Tang, Andrew Yool, Andy Wiltshire, Fiona M. O'Connor, Marc Stringer, Richard Hill, Julien Palmieri, Stephanie Woodward, Lee deMora, Till Kuhlbrodt, Steven T. Rumbold, Douglas I. Kelley, Rich Ellis, Colin E. Johnson, Jeremy Walton, Nathan Luke Abraham, Martin B. Andrews, Timothy Andrews, Alex T. Archibald, Ségolène Berthou, Eleanor Burke, Ed Blockley, Ken Carslaw, Mohit Dalvi, John Edwards, Gerd A. Folberth, Nicola Gedney, Paul T. Griffiths, Anna B. Harper, Maggie A. Hendry, Alan J. Hewitt, Ben Johnson, Andy Jones, Chris D. Jones, James Keeble, Spencer Liddicoat, Olaf Morgenstern, Robert J. Parker, Valeriu Predoi, Eddy Robertson, Antony Siahaan, Robin S. Smith, Ranjini Swaminathan, Matthew T. Woodhouse, Guang Zeng, Mohamed Zerroukat
Publikováno v:
Journal of Advances in Modeling Earth Systems, Vol 11, Iss 12, Pp 4513-4558 (2019)
Abstract We document the development of the first version of the U.K. Earth System Model UKESM1. The model represents a major advance on its predecessor HadGEM2‐ES, with enhancements to all component models and new feedback mechanisms. These includ
Externí odkaz:
https://doaj.org/article/fc137c7dd8bf42a8b59ad5054a5e9f9c
Autor:
Emma C. Lathan, Abby Britt, Meghna Ravi, Marcia J. Ash, Elizabeth McAfee, Shimarith Wallace, Colin B. Johnson, Briana Woods-Jaeger, Abigail Powers, Vasiliki Michopoulos
Publikováno v:
Journal of Trauma & Dissociation. :1-18