Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Penny McDonald"'
1
Akademický článek
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient
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
Zobrazit plný text záznamu
2
Akademický článek
CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A
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
Zobrazit plný text záznamu
3
CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A
Autor: Kathryn M. Yammine, John F. Bateman, Penny McDonald, Matthew D. Shoulders, Alison Graham, Lisa Sampurno, Shireen R. Lamandé, Louise H. W. Kung
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce6cd2ee737d4886fb43ca409ae5b7d
https://pubmed.ncbi.nlm.nih.gov/33002832
Zobrazit plný text záznamu
4
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient
Autor: Annabelle Suter, Adam T. Piers, Chantal A. Coles, Peter J. Houweling, Penny McDonald, Shireen R. Lamandé, Alison Graham, Bridget Nielsen, Monique M. Ryan, Robin Forbes, Kathryn N. North, Sara E. Howden, Chrystal F. Tiong
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a92905d69c72074e41779194bd3cf01
https://doi.org/10.1016/j.scr.2021.102429
Zobrazit plný text záznamu
5
Introducing sign language literature – folklore & creativity
Autor: Penny McDonald
Publikováno v: Deafness & Education International. 19:50-51
The authors of this book believe it is the ‘first comprehensive and in depth introductory book’ about sign language literature. There is certainly a wealth of information in this very readable book...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a7daef03b276dbaed4271574c9701ab
https://doi.org/10.1080/14643154.2017.1314846
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje