Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

Gene expression is tightly regulated with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function(1). This silencing is largely controlled by non-coding elements and their disruption might cause human disease(2). We performed gene-agnostic scre...

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Detalles Bibliográficos
Autores principales: Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A.L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614032/
https://www.ncbi.nlm.nih.gov/pubmed/36333503
http://dx.doi.org/10.1038/s41588-022-01204-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614032/
https://www.ncbi.nlm.nih.gov/pubmed/36333503
http://dx.doi.org/10.1038/s41588-022-01204-x

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