A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome

Autor: Kuzmuk, Valeryia, Pranke, Iwona, Rollason, Ruth, Butler, Matthew, Ding, Wen Y., Beesley, Matthew, Waters, Aoife M., Coward, Richard J., Sessions, Richard, Tuffin, Jack, Foster, Rebecca R., Mollet, Géraldine, Antignac, Corinne, Edelman, Aleksander, Welsh, Gavin I., Saleem, Moin A.

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First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

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Publikováno v: In European Journal of Medical Genetics November 2021 64(11)

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Activation of podocyte Notch mediates early Wt1 glomerulopathy

Autor: Asfahani, Rowan I., Tahoun, Mona M., Miller-Hodges, Eve V., Bellerby, Jack, Virasami, Alex K., Sampson, Robert D., Moulding, Dale, Sebire, Neil J., Hohenstein, Peter, Scambler, Peter J., Waters, Aoife M.

Publikováno v: Asfahani, R I, Tahoun, M M, Miller-Hodges, E V, Bellerby, J, Virasami, A K, Sampson, R D, Moulding, D, Sebire, N J, Hohenstein, P, Scambler, P J & Waters, A M 2018, ' Activation of podocyte Notch mediates early Wt1 glomerulopathy ', Kidney International, vol. 93, no. 4, pp. 903-920 . https://doi.org/10.1016/j.kint.2017.11.014

The Wilms' tumor suppressor gene, WT1, encodes a zinc finger protein that regulates podocyte development and is highly expressed in mature podocytes. Mutations in the WT1 gene are associated with the development of renal failure due to the formation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::3335f50995c7ee12cefcf3c1e9219991
https://hdl.handle.net/20.500.11820/4acce1f4-2ca3-4e2d-80c1-587dc6787b82

The CONSENSUS study: protocol for a mixed methods study to establish which outcomes should be included in a core outcome set for oropharyngeal cancer.

Autor: Waters, Aoife M. I.^1,2,3 aoife.waters@liverpool.ac.uk, Tudur, Catrin¹ cat1@liverpool.ac.uk, Young, Bridget⁴ byoung@liverpool.ac.uk, Jones, Terry M.^2,3 T.M.Jones@liverpool.ac.uk

Publikováno v: Trials. 2014, Vol. 15 Issue 1, p1-18. 18p.