Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Rhonda L Taylor"'
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103491- (2024)
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC lines from lymp
Externí odkaz:
https://doaj.org/article/3d5d74df28c54775a784033792ebea4b
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103411- (2024)
RYR1 variants are a common cause of congenital myopathies, including multi-minicore disease (MmD) and central core disease (CCD). Here, we generated iPSC lines from two CCD patients with dominant RYR1 missense variants that affect the transmembrane (
Externí odkaz:
https://doaj.org/article/a2f31142d3c04bd2b691d66e91321b37
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103410- (2024)
RYR1 variants are the most common genetic cause of congenital myopathies, and typically cause central core disease (CCD) and/or malignant hyperthermia (MH). Here, we generated iPSC lines from two patients with CCD and MH caused by dominant RYR1 varia
Externí odkaz:
https://doaj.org/article/83937e9ad64641f5b8a74afaa10b22c6
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:
Karrison Driver, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103258- (2023)
Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblasto
Externí odkaz:
https://doaj.org/article/b7c641e3388f4b1b896aa00fec23de72
Autor:
Hayley Goullée, Rhonda L. Taylor, Alistair R. R. Forrest, Nigel G. Laing, Gianina Ravenscroft, Joshua S. Clayton
Publikováno v:
Skeletal Muscle, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Background CRISPR/Cas9 is an invaluable tool for studying cell biology and the development of molecular therapies. However, delivery of CRISPR/Cas9 components into some cell types remains a major hurdle. Primary human myoblasts are a valuabl
Externí odkaz:
https://doaj.org/article/e07e85873bf14f75bbfdad237f93213d
Autor:
Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102829- (2022)
Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia and muscle weakness. Here, we generated an induced pluripotent stem cell line (iPSC) from lym
Externí odkaz:
https://doaj.org/article/29fa7d240b274f9c9f95ed0974db0291
Autor:
Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102830- (2022)
Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cel
Externí odkaz:
https://doaj.org/article/84bf78f45a364a2e8ac239d059749486
Autor:
Jessica Cheng, Joshua S. Clayton, Rafael D. Acemel, Ye Zheng, Rhonda L. Taylor, Sündüz Keleş, Martin Franke, Susan A. Boackle, John B. Harley, Elizabeth Quail, José Luis Gómez-Skarmeta, Daniela Ulgiati
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The Regulators of Complement Activation (RCA) gene cluster comprises several tandemly arranged genes with shared functions within the immune system. RCA members, such as complement receptor 2 (CR2), are well-established susceptibility genes in comple
Externí odkaz:
https://doaj.org/article/d05f0fbeee494a1ba5b7d2d49c8e5982
Autor:
Joshua S. Clayton, Elyshia L. McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C. Musk, David Coote, James Kijas, Alison C. Testa, Rhonda L. Taylor, Amanda J. O’Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G. Laing, Kristen J. Nowak
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)
Abstract Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most prominent feature of the disease is a distinctive gait with stiffness of
Externí odkaz:
https://doaj.org/article/62c6f646f3804c82ae5565c706bb352a