Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Shireen R. Lamande"'
Autor:
Ian R. Woodcock, George Tachas, Nuket Desem, Peter J. Houweling, Michael Kean, Jaiman Emmanuel, Rachel Kennedy, Kate Carroll, Katy de Valle, Justine Adams, Shireen R. Lamandé, Chantal Coles, Chrystal Tiong, Matthew Burton, Daniella Villano, Peter Button, Jean-Yves Hogrel, Sarah Catling-Seyffer, Monique M. Ryan, Martin B. Delatycki, Eppie M. Yiu
Publikováno v:
PLoS ONE, Vol 19, Iss 1 (2024)
Externí odkaz:
https://doaj.org/article/702e5be6ce254341be3f745a50be43b3
Autor:
Kathryn M. Yammine, Sophia Mirda Abularach, Lisa Sampurno, John F. Bateman, Shireen R. Lamandé, Matthew D. Shoulders
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103020- (2023)
The human iPSC line MCRIi019-A-6 was generated using CRISPR/Cas9-mediated gene editing to introduce a heterozygous COL2A1 exon 33 c.2155C>T (p.R719C) mutation into the control human iPSC line MCRIi019-A. Both the edited and parental lines display typ
Externí odkaz:
https://doaj.org/article/5ca7625f0c10491293b5bebfc18da997
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The transfer of stress and strain signals between the extracellular matrix (ECM) and cells is crucial for biochemical and biomechanical cues that are required for tissue morphogenesis, differentiation, growth, and homeostasis. In cartilage tissue, th
Externí odkaz:
https://doaj.org/article/e647f4ce953c46d4a59786a7500fa50e
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102515- (2021)
The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control hum
Externí odkaz:
https://doaj.org/article/ca8dc239e69e4516bec920470cf0620e
Autor:
Peter J. Houweling, Chantal A. Coles, Chrystal F. Tiong, Bridget Nielsen, Alison Graham, Penny McDonald, Annabelle Suter, Adam T. Piers, Robin Forbes, Monique M. Ryan, Sara E. Howden, Shireen R. Lamandé, Kathryn N. North
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102429- (2021)
To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous p.Gly148Asp mutation in exon 3 of the ACTA1 gene to iPSCs. Using CRISPR/Cas9 gene editing we corrected
Externí odkaz:
https://doaj.org/article/fd458bd769a240bdab0c029e7e060663
Autor:
Setareh Sianati, Lioba Schroeter, Jessica Richardson, Andy Tay, Shireen R. Lamandé, Kate Poole
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 8 (2021)
Ion channels activated by mechanical inputs are important force sensing molecules in a wide array of mammalian cells and tissues. The transient receptor potential channel, TRPV4, is a polymodal, nonselective cation channel that can be activated by me
Externí odkaz:
https://doaj.org/article/7abbf05cfd8a4768aa1d9183cc323a1b
Publikováno v:
Stem Cell Research, Vol 50, Iss , Pp 102118- (2021)
miR-26b has been implicated in a wide range of human diseases, including cancer, diabetes, heart disease, Alzheimer’s disease and osteoarthritis. To provide a tool to explore the importance of miR-26b in this broad context, we have generated and ch
Externí odkaz:
https://doaj.org/article/bd7c47f23fd840b78622ca626efa281c
Publikováno v:
Molecules, Vol 26, Iss 4, p 853 (2021)
Duchenne muscular dystrophy (DMD) is a progressive fatal neuromuscular disorder with no cure. Therapies to restore dystrophin deficiency have been approved in some jurisdictions but long-term effectiveness is yet to be established. There is a need to
Externí odkaz:
https://doaj.org/article/3fb2f6286a064f529df35e17f048ded3
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