Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Shireen R, Lamandé"'
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
Autor:
Louise H.W. Kung, Lisa Sampurno, Kathryn M. Yammine, Alison Graham, Penny McDonald, John F. Bateman, Matthew D. Shoulders, Shireen R. Lamandé
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101962- (2020)
To develop an in vitro disease model of a human chondrodysplasia, we used CRISPR/Cas9 gene editing to generate a heterozygous COL2A1 exon 50 c.3508 GGT > TCA (p.G1170S) mutation in a control human iPSC line. Both the control and COL2A1 mutant lines d
Externí odkaz:
https://doaj.org/article/de3e9bd33e834727b53533427a714e9f
Autor:
Yudha Nur Patria, Tayla Stenta, Jinia Lilianty, Lynn Rowley, Edouard G. Stanley, Andrew G. Elefanty, John F. Bateman, Shireen R. Lamandé
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101942- (2020)
To produce in vitro models of human chondrodysplasias caused by dominant missense mutations in TRPV4, we used CRISPR/Cas9 gene editing to introduce two heterozygous patient mutations (p.F273L and p.P799L) into an established control human iPSC line.
Externí odkaz:
https://doaj.org/article/1b30b9d66478485f850dcb65bca8ce26
Autor:
Jinia Lilianty, Yudha Nur Patria, Edouard G. Stanley, Andrew G. Elefanty, John F. Bateman, Shireen R. Lamandé
Publikováno v:
Stem Cell Research, Vol 45, Iss , Pp - (2020)
To produce an in vitro model of the human chondrodysplasia, spondyloepiphyseal dysplasia congenita, we used CRISPR/Cas9 gene editing to generate a heterozygous patient COL2A1 mutation in an established control human iPSC line. The gene-edited heteroz
Externí odkaz:
https://doaj.org/article/40296f66dbc640eeae577b12bd343cd5