Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations

Several studies have reported WDR73 mutations to be causative of Galloway–Mowat syndrome, a rare disorder characterised by the association of neurological defects and renal-glomerular disease. In this study, we demonstrate interaction of WDR73 with the INTS9 and INTS11 components of Integrator, a la...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Tilley, F. C., Arrondel, C., Chhuon, C., Boisson, M., Cagnard, N., Parisot, M., Menara, G., Lefort, N., Guerrera, I. C., Bole-Feysot, C., Benmerah, A., Antignac, C., Mollet, G.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940485/
https://ncbi.nlm.nih.gov/pubmed/33686175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-84472-7
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