Zobrazeno 1 - 10
of 520
pro vyhledávání: '"F. Bateman"'
Key social and emotional milestones during adolescence are often directly related to the abilities to initiate and maintain intimate relationships, maintain physically maturing bodies, and manage personal sexuality. Most adolescents with developmenta
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:
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:
Louise H. W. Kung, Lorna Mullan, Jamie Soul, Ping Wang, Kazutoshi Mori, John F. Bateman, Michael D. Briggs, Raymond P. Boot-Handford
Publikováno v:
Arthritis Research & Therapy, Vol 21, Iss 1, Pp 1-13 (2019)
Abstract Background Osteoarthritis has been associated with a plethora of pathological factors and one which has recently emerged is chondrocyte endoplasmic reticulum (ER) stress. ER stress is sensed by key ER-resident stress sensors, one of which is
Externí odkaz:
https://doaj.org/article/a4f7bbd62ff44cc7942e5f91d11de813
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
Autor:
Yudha Nur Patria, Jinia Lilianty, Andrew G. Elefanty, Edouard G. Stanley, Tanya Labonne, John F. Bateman, Shireen R. Lamandé
Publikováno v:
Stem Cell Research, Vol 42, Iss , Pp - (2020)
To develop an iPSC SOX9 reporter line for monitoring differentiation into SOX9 expressing cells such as chondrocytes, cranial neural crest and Sertoli cells, we used gene editing to introduce sequences encoding the tdTomato fluorescent protein into t
Externí odkaz:
https://doaj.org/article/7fb929e106ed4e419dc5666d0ac5d3d9
Autor:
Katarzyna A Piróg, Ella P Dennis, Claire L Hartley, Robert M Jackson, Jamie Soul, Jean-Marc Schwartz, John F Bateman, Raymond P Boot-Handford, Michael D Briggs
Publikováno v:
PLoS Genetics, Vol 15, Iss 7, p e1008215 (2019)
The unfolded protein response (UPR) is a conserved cellular response to the accumulation of proteinaceous material in endoplasmic reticulum (ER), active both in health and disease to alleviate cellular stress and improve protein folding. Multiple epi
Externí odkaz:
https://doaj.org/article/01650fe1a5954ca4a1d86bc01e39d7f1