Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Shireen R, Lamande"'
Autor:
Tim Kao, Tanya Labonne, Jonathan C. Niclis, Ritu Chaurasia, Zerina Lokmic, Elizabeth Qian, Freya F. Bruveris, Sara E. Howden, Ali Motazedian, Jacqueline V. Schiesser, Magdaline Costa, Koula Sourris, Elizabeth Ng, David Anderson, Antonietta Giudice, Peter Farlie, Michael Cheung, Shireen R. Lamande, Anthony J. Penington, Clare L. Parish, Lachlan H. Thomson, Arash Rafii, David A. Elliott, Andrew G. Elefanty, Edouard G. Stanley
Publikováno v:
Stem Cell Reports, Vol 7, Iss 3, Pp 518-526 (2016)
The ability to reliably express fluorescent reporters or other genes of interest is important for using human pluripotent stem cells (hPSCs) as a platform for investigating cell fates and gene function. We describe a simple expression system, designa
Externí odkaz:
https://doaj.org/article/84991faa8f614fe795274f0c6fa6e99b
Autor:
Martha Blank, Narelle E McGregor, Lynn Rowley, Louise HW Kung, Blessing Crimeen-Irwin, Ingrid J Poulton, Emma C Walker, Jonathan H Gooi, Shireen R. Lamande, Natalie A Sims, John F. Bateman
The inherited brittle bone disease osteogenesis imperfecta (OI) is commonly caused by COL1A1 and COL1A2 mutations that disrupt the collagen I triple helix. This causes intracellular endoplasmic reticulum (ER) retention of the misfolded collagen and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05120277a840eb60897de5d4822b7599
https://doi.org/10.1101/2022.02.23.481692
https://doi.org/10.1101/2022.02.23.481692
Autor:
Gina L, O'Grady, Monkol, Lek, Shireen R, Lamande, Leigh, Waddell, Emily C, Oates, Jaya, Punetha, Roula, Ghaoui, Sarah A, Sandaradura, Heather, Best, Simranpreet, Kaur, Mark, Davis, Nigel G, Laing, Francesco, Muntoni, Eric, Hoffman, Daniel G, MacArthur, Nigel F, Clarke, Sandra, Cooper, Kathryn, North
Publikováno v:
Annals of neurology. 80(1)
To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next generation sequencing (NGS) technologies.A total of 123 CMD patients were investigated using the traditional approaches o