Zobrazeno 1 - 10
of 408
pro vyhledávání: '"S Kearns"'
Autor:
L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns, K. L. Galvin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite these developments,
Externí odkaz:
https://doaj.org/article/583114e31eb349baa136dc8061396ded
Autor:
Alexis Ceecee Britten-Jones, Joshua Schultz, Heather G. Mack, Lisa S. Kearns, Aamira J. Huq, Jonathan B. Ruddle, David A. Mackey, Alex W. Hewitt, Thomas L. Edwards, Lauren N. Ayton
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract This study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed
Externí odkaz:
https://doaj.org/article/c77e2b459ac246a794c86c5b38e23017
Autor:
L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns, K. L. Galvin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/7b7ce6a314e24e999fef70b3dedc6488
Autor:
Anne Senabouth, Maciej Daniszewski, Grace E. Lidgerwood, Helena H. Liang, Damián Hernández, Mehdi Mirzaei, Stacey N. Keenan, Ran Zhang, Xikun Han, Drew Neavin, Louise Rooney, Maria Isabel G. Lopez Sanchez, Lerna Gulluyan, Joao A. Paulo, Linda Clarke, Lisa S. Kearns, Vikkitharan Gnanasambandapillai, Chia-Ling Chan, Uyen Nguyen, Angela M. Steinmann, Rachael A. McCloy, Nona Farbehi, Vivek K. Gupta, David A. Mackey, Guy Bylsma, Nitin Verma, Stuart MacGregor, Matthew J. Watt, Robyn H. Guymer, Joseph E. Powell, Alex W. Hewitt, Alice Pébay
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Age-related macular degeneration (AMD) is a leading cause of vision loss, and there is no approved treatment for AMD with geographic atrophy. Here, the authors used transcriptomic and proteomic analyses of patient induced pluripotent stem cell-derive
Externí odkaz:
https://doaj.org/article/26ee70153c844e808b5ef6d67e2ac7a9
Autor:
Michael S. Kearns
Curiosity about the human mind—what it is and how it functions—began long before modern psychology. But because the mind and its processes are so elusive, they could be described only by means of metaphor. Michael Kearns, in this prize-winning st
Autor:
Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to r
Externí odkaz:
https://doaj.org/article/4ff1c19df53e4efbbc6b1d8bf05fb8cc
Autor:
David A Mackey, Emmanuelle Souzeau, Jamie E Craig, Jonathan B Ruddle, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Sandra E Staffieri, Johanna L Jones, Lisa S Kearns, James E Elder, Deepa Taranath, John Pater, Theresa Casey
Publikováno v:
BMJ Open Ophthalmology, Vol 7, Iss 1 (2022)
Objective Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variant
Externí odkaz:
https://doaj.org/article/4531117e512f447886a812c832faec19
Autor:
Maciej Daniszewski, Anne Senabouth, Helena H. Liang, Xikun Han, Grace E. Lidgerwood, Damián Hernández, Priyadharshini Sivakumaran, Jordan E. Clarke, Shiang Y. Lim, Jarmon G. Lees, Louise Rooney, Lerna Gulluyan, Emmanuelle Souzeau, Stuart L. Graham, Chia-Ling Chan, Uyen Nguyen, Nona Farbehi, Vikkitharan Gnanasambandapillai, Rachael A. McCloy, Linda Clarke, Lisa S. Kearns, David A. Mackey, Jamie E. Craig, Stuart MacGregor, Joseph E. Powell, Alice Pébay, Alex W. Hewitt
Publikováno v:
Cell Genomics, Vol 2, Iss 6, Pp 100142- (2022)
Summary: To assess the transcriptomic profile of disease-specific cell populations, fibroblasts from patients with primary open-angle glaucoma (POAG) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into retin
Externí odkaz:
https://doaj.org/article/bda5107c7c8a45e0aa69bcd697f93428
Autor:
Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-8 (2020)
Abstract Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant numbe
Externí odkaz:
https://doaj.org/article/10706826b7434e968105f1c716e20d3f
Autor:
David A. Mackey, Jue-Sheng Ong, Stuart MacGregor, David C. Whiteman, Jamie E. Craig, M. Isabel G. Lopez Sanchez, Lisa S. Kearns, Sandra E. Staffieri, Linda Clarke, Myra B. McGuinness, Wafaa Meteoukki, Sona Samuel, Jonathan B. Ruddle, Celia Chen, Clare L. Fraser, John Harrison, Neil Howell, Alex W. Hewitt
Publikováno v:
The American Journal of Human Genetics. 110:170-176
Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondrial risk variant never lose vision. Mitochondrial haplotype appears to be a major factor influencing the risk of vision
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::233db0aa56bf36ddbb68c23424a859dd
https://doi.org/10.1016/j.ajhg.2022.11.014
https://doi.org/10.1016/j.ajhg.2022.11.014