Daria Carmela Loconte

Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study

Nicoletta Resta, Daniela Pierannunzio, Gennaro Mariano Lenato et al. · Digestive and Liver Disease · 2013 · 153 citations · Full text

Cancer Risk, Cancer Epidemiology, Genetic Disorder +12

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria Carmela Loconte, Valentina Grossi, Cristina Bozzao et al. · PLoS ONE · 2015 · 80 citations · Full text

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)

Carlotta Ranieri, Silvia Di Tommaso, Daria Carmela Loconte et al. · Neurogenetics · 2018 · 79 citations · Full text

The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer

Valentina Grossi, Giovanna Forte, Paola Sanese et al. · Nucleic Acids Research · 2018 · 68 citations · Full text

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello et al. · Journal of Medical Genetics · 2022 · 48 citations · Full text