Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

BACKGROUND: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are c...

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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Cabrera-López, Cristina, Bullich, Gemma, Martí, Teresa, Català, Violeta, Ballarín, Jose, Bissler, John J., Harris, Peter C., Ars, Elisabet, Torra, Roser
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4631093/
https://ncbi.nlm.nih.gov/pubmed/26077033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0185-y
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