Zobrazeno 1 - 10
of 424
pro vyhledávání: '"Kathryn N. North"'
Autor:
Peter J. Houweling, Vanessa Crossman, Chrystal F. Tiong, Chantal A. Coles, Rhonda L. Taylor, Joshua S. Clayton, Alison Graham, Katerina Vlahos, Sara E Howden, Kathryn N. North
Publikováno v:
Stem Cell Research, Vol 75, Iss , Pp 103313- (2024)
We used gene editing to introduce DNA sequences encoding the tdTomato fluorescent protein into the α -skeletal actin 1 (ACTA1) locus to develop an ACTA1-tdTomato induced pluripotent stem cell reporter line for monitoring differentiation of skeletal
Externí odkaz:
https://doaj.org/article/75f03b21689441919a85346fd3aa237a
Autor:
Michael Haug, Barbara Reischl, Stefanie Nübler, Leonit Kiriaev, Davi A. G. Mázala, Peter J. Houweling, Kathryn N. North, Oliver Friedrich, Stewart I. Head
Publikováno v:
Skeletal Muscle, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract Background A common polymorphism (R577X) in the ACTN3 gene results in the complete absence of the Z-disc protein α-actinin-3 from fast-twitch muscle fibres in ~ 16% of the world’s population. This single gene polymorphism has been subject
Externí odkaz:
https://doaj.org/article/e97fc3872be3499dad0fc0cfd308f34b
Autor:
Anita K. Chisholm, Kristina M. Haebich, Natalie A. Pride, Karin S. Walsh, Francesca Lami, Alex Ure, Tiba Maloof, Amanda Brignell, Melissa Rouel, Yael Granader, Alice Maier, Belinda Barton, Hayley Darke, Gabriel Dabscheck, Vicki A. Anderson, Katrina Williams, Kathryn N. North, Jonathan M. Payne
Publikováno v:
Molecular Autism, Vol 13, Iss 1, Pp 1-17 (2022)
Abstract Background Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To
Externí odkaz:
https://doaj.org/article/17d84eaaf919467896a6e3156f7eb969
Autor:
Alexander J. Knights, Emily J. Vohralik, Peter J. Houweling, Elizabeth S. Stout, Laura J. Norton, Stephanie J. Alexopoulos, Jinfen. J. Yik, Hanapi Mat Jusoh, Ellen M. Olzomer, Kim S. Bell-Anderson, Kathryn N. North, Kyle L. Hoehn, Merlin Crossley, Kate G. R. Quinlan
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Immune cells are important regulators of adipose tissue function, including adaptive thermogenesis. Here the authors show that mice with Krüppel-like factor 3 (KLF3) deficiency in bone marrow-derived cells have increased adipose tissue beiging which
Externí odkaz:
https://doaj.org/article/c3cf746046c44c4288224f72b4e3c524
Autor:
Jonathan M. Payne, Stephen J. C. Hearps, Karin S. Walsh, Iris Paltin, Belinda Barton, Nicole J. Ullrich, Kristina M. Haebich, David Coghill, Gerard A. Gioia, Alan Cantor, Gary Cutter, James H. Tonsgard, David Viskochil, Celiane Rey‐Casserly, Elizabeth K. Schorry, Joseph D. Ackerson, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Kathryn N. North, the NF Clinical Trials Consortium
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)
Abstract Objective Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism‐based treatments. However, translation from preclinica
Externí odkaz:
https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2
Autor:
Leonit Kiriaev, Sindy Kueh, John W. Morley, Kathryn N. North, Peter J. Houweling, Stewart I. Head
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Duchenne muscular dystrophy is caused by the absence of the protein dystrophin from skeletal muscle and is characterized by progressive cycles of necrosis/regeneration. Using the dystrophin deficient mdx mouse model, we studied the morphological and
Externí odkaz:
https://doaj.org/article/f0bb11040720471a978812368c2c20d7
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:
Alice Maier, Natalie A. Pride, Stephen J. C. Hearps, Nijashree Shah, Melanie Porter, Kathryn N. North, Jonathan M. Payne
Publikováno v:
Child Neuropsychology. :1-12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7a96c43c557965116f469e548d45810
https://doi.org/10.1080/09297049.2023.2199975
https://doi.org/10.1080/09297049.2023.2199975
Autor:
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L. Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John Pearson, Nicola Waddell, Christopher P. Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gecz, Adam Jaffe, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew J. Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T. Simpson, Peta Phillips, Marie-Jo Brion, Keri Finlay, Michael CJ. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H. Sinclair, John Christodoulou, Kathryn N. North
Publikováno v:
The American Journal of Human Genetics. 110:419-426
Refereed/Peer-reviewed Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffd2928ca8e53c9959c805e132af1ae
https://doi.org/10.1016/j.ajhg.2023.01.018
https://doi.org/10.1016/j.ajhg.2023.01.018
Autor:
Kiymet Bozaoglu, Wei Shern Lee, Kristina M. Haebich, Kathryn N. North, Jonathan M. Payne, Paul J. Lockhart
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102013- (2020)
We describe the generation and characterisation of four human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMC) from individuals with neurofibromatosis type (NF1). PBMC reprogramming was performed using a non-i
Externí odkaz:
https://doaj.org/article/249bad0528e74909922671ea2121f9b2