Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

Autor: Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas

Publikováno v: Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9
Genetics in Medicine
Genetics in medicine

Purpose: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf

Developing junior doctor-delivered teaching

Autor: Zeshan Qureshi, Constantinos A. Parisinos, H. Nikki Hall, Michael Ross, Mark Rodrigues, Simon Maxwell

Publikováno v: The Clinical Teacher. 10:118-123

Summary Background: There are increasing opportunities for junior doctors to deliver teaching as well as formally develop teaching skills. Near-peer teaching (NPT) programmes, like that established in South-East Scotland, not only provide additional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a22db228027c0f77a9b60aa8d38c641
https://doi.org/10.1111/j.1743-498x.2012.00622.x